#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
SUFU	51684	broad.mit.edu	37	10	104263973	104263974	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	-	-	-	C	-	-	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr10:104263973_104263974insC	ENST00000369902.3	+	1	230_231	c.64_65insC	c.(64-66)gccfs	p.A22fs	ACTR1A_ENST00000545684.1_5'Flank|ACTR1A_ENST00000369905.4_5'Flank|SUFU_ENST00000369899.2_Frame_Shift_Ins_p.A22fs|SUFU_ENST00000423559.2_Frame_Shift_Ins_p.A22fs|ACTR1A_ENST00000487599.1_5'Flank|ACTR1A_ENST00000446605.2_5'Flank	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	22					cytoplasmic sequestering of transcription factor (GO:0042994)|heart looping (GO:0001947)|multicellular organismal development (GO:0007275)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skin development (GO:0043588)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|primary cilium (GO:0072372)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.A25fs*23(1)		breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		tggcccgactgcccccccggcc	0.738			"""D, F, S"""		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation																												p.A22fs		yes	Rec	yes	Medulloblastoma predisposition	10	10q24.32	51684	suppressor of fused homolog (Drosophila)		O	.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.64_65insC	10						.																																			104253964	SO:0001589	frameshift_variant	51684	exon1	Familial Cancer Database		AF175770	CCDS7537.1, CCDS53571.1	10q24.32	2014-09-17			ENSG00000107882	ENSG00000107882			16466	protein-coding gene	gene with protein product		607035				15367681	Standard	NM_016169		Approved	SUFUH, SUFUXL, PRO1280	uc001kvy.2	Q9UMX1	OTTHUMG00000018966	ENST00000369902.3:c.71dupC	10.37:g.104263980_104263980dupC	ENSP00000358918:p.Ala22fs		104253963	NM_001178133	Q7LCP7|Q9NT90|Q9NZ07|Q9UHK2|Q9UHM8|Q9UMY0	Frame_Shift_Ins	INS	ENST00000369902.3	37	CCDS7537.1																																																																																				0.738	SUFU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050089.1	NM_016169	
RBM20	282996	broad.mit.edu	37	10	112595669	112595670	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	-	-	-	G	-	-	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr10:112595669_112595670insG	ENST00000369519.3	+	14	3675_3676	c.3617_3618insG	c.(3616-3621)gaggggfs	p.EG1206fs	RBM20_ENST00000480343.2_3'UTR	NM_001134363.1	NP_001127835.1	Q5T481	RBM20_HUMAN	RNA binding motif protein 20	1206					heart development (GO:0007507)|mRNA processing (GO:0006397)|positive regulation of RNA splicing (GO:0033120)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.A1208fs*3(1)		autonomic_ganglia(1)|endometrium(4)|kidney(3)|large_intestine(1)|ovary(1)|skin(2)	12						AAGGAGACCGAGGGGGCAGATA	0.564																																					p.E1206fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.3617_3618insG	10						.																																			112585660	SO:0001589	frameshift_variant	282996	exon14			BX648563	CCDS44477.1	10q25.3	2014-09-17			ENSG00000203867	ENSG00000203867		"""RNA binding motif (RRM) containing"""	27424	protein-coding gene	gene with protein product		613171					Standard	NM_001134363		Approved		uc001kzf.2	Q5T481	OTTHUMG00000019043	ENST00000369519.3:c.3622dupG	10.37:g.112595674_112595674dupG	ENSP00000358532:p.Glu1206fs		112585659	NM_001134363	A6NIP5|B5A868|Q5JVI1	Frame_Shift_Ins	INS	ENST00000369519.3	37	CCDS44477.1																																																																																				0.564	RBM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050339.2	NM_001134363	
HPS1	3257	broad.mit.edu	37	10	100177447	100177447	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr10:100177447G>A	ENST00000325103.6	-	20	2210	c.1977C>T	c.(1975-1977)acC>acT	p.T659T	HPS1_ENST00000361490.4_Silent_p.T659T|PYROXD2_ENST00000370575.4_5'Flank|HPS1_ENST00000467246.1_5'UTR	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	659					blood coagulation (GO:0007596)|eye pigmentation (GO:0048069)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of natural killer cell activation (GO:0032816)|retina development in camera-type eye (GO:0060041)|secretion of lysosomal enzymes (GO:0033299)|visual perception (GO:0007601)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	protein dimerization activity (GO:0046983)	p.T659T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		TGACAGCCTCGGTTGGGCGGT	0.667									Hermansky-Pudlak syndrome																												p.T659T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1977T	10						.						72.0	65.0	67.0					10																	100177447		2203	4300	6503	100167437	SO:0001819	synonymous_variant	3257	exon20	Familial Cancer Database	HPS, HPS1-8	U79136	CCDS7475.1, CCDS7476.1	10q23.1-q23.3	2014-06-18		2002-05-01	ENSG00000107521	ENSG00000107521			5163	protein-coding gene	gene with protein product		604982	"""Hermansky-Pudlak syndrome"""	HPS		8541858, 7573033	Standard	NM_182639		Approved		uc021pwv.1	Q92902	OTTHUMG00000018876	ENST00000325103.6:c.1977C>T	10.37:g.100177447G>A			100167437	NM_000195	A8MRT2|O15402|O15502|Q5TAA3|Q8WXE5	Nonsense_Mutation	SNP	ENST00000325103.6	37	CCDS7475.1																																																																																				0.667	HPS1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049776.1	NM_000195, NM_182637, NM_182638, NM_182639	
HPSE2	60495	broad.mit.edu	37	10	100219419	100219419	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr10:100219419C>T	ENST00000370552.3	-	12	1750	c.1691G>A	c.(1690-1692)cGg>cAg	p.R564Q	HPSE2_ENST00000404542.1_Missense_Mutation_p.R452Q|HPSE2_ENST00000370549.1_Missense_Mutation_p.R506Q|HPSE2_ENST00000370546.1_3'UTR	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	564					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)	p.R564Q(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		CCGGCCGGCCCGAAGGGGGCG	0.552																																					p.R452Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1355A	10						.						46.0	47.0	47.0					10																	100219419		2203	4300	6503	100209409	SO:0001583	missense	60495	exon10			AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"""urofacial syndrome"", ""heparanase 2"""	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.1691G>A	10.37:g.100219419C>T	ENSP00000359583:p.Arg564Gln		100209409	NM_001166245	Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Missense_Mutation	SNP	ENST00000370552.3	37	CCDS7477.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.591700	0.86953	.	.	ENSG00000172987	ENST00000370552;ENST00000370549;ENST00000404542	T;T;T	0.77620	-1.11;-1.11;-1.11	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.86146	0.5863	M	0.66939	2.045	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.997	D;D;D	0.75484	0.986;0.986;0.968	T	0.81385	-0.0957	10	0.13108	T	0.6	-9.9447	19.4309	0.94765	0.0:1.0:0.0:0.0	.	452;506;564	Q8WWQ2-4;Q8WWQ2-3;Q8WWQ2	.;.;HPSE2_HUMAN	Q	564;506;452	ENSP00000359583:R564Q;ENSP00000359580:R506Q;ENSP00000384384:R452Q	ENSP00000359580:R506Q	R	-	2	0	HPSE2	100209409	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.357000	0.79456	2.592000	0.87571	0.650000	0.86243	CGG		0.552	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049789.1	NM_021828	
HPSE2	60495	broad.mit.edu	37	10	100249892	100249892	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr10:100249892A>G	ENST00000370552.3	-	10	1441	c.1382T>C	c.(1381-1383)gTg>gCg	p.V461A	HPSE2_ENST00000404542.1_Missense_Mutation_p.V349A|HPSE2_ENST00000370549.1_Missense_Mutation_p.V403A|HPSE2_ENST00000370546.1_Missense_Mutation_p.V461A	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	461					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)	p.V461A(2)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		GAGCCCAGCCACATGCACAGC	0.557																																					p.V461A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1382C	10						.						84.0	85.0	85.0					10																	100249892		2203	4300	6503	100239882	SO:0001583	missense	60495	exon10			AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"""urofacial syndrome"", ""heparanase 2"""	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.1382T>C	10.37:g.100249892A>G	ENSP00000359583:p.Val461Ala		100239882	NM_001166246	Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Missense_Mutation	SNP	ENST00000370552.3	37	CCDS7477.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.364511	0.82463	.	.	ENSG00000172987	ENST00000370552;ENST00000370549;ENST00000370546;ENST00000404542	T;T;T;T	0.48836	0.8;0.84;1.35;0.85	5.61	4.47	0.54385	.	0.000000	0.64402	D	0.000001	T	0.61937	0.2387	L	0.59436	1.845	0.58432	D	0.999998	B;D;D;D	0.67145	0.006;0.99;0.996;0.994	B;P;D;D	0.76071	0.016;0.875;0.987;0.97	T	0.59408	-0.7460	10	0.38643	T	0.18	-7.0618	11.5807	0.50889	0.9299:0.0:0.0701:0.0	.	349;461;403;461	Q8WWQ2-4;Q8WWQ2-2;Q8WWQ2-3;Q8WWQ2	.;.;.;HPSE2_HUMAN	A	461;403;461;349	ENSP00000359583:V461A;ENSP00000359580:V403A;ENSP00000359577:V461A;ENSP00000384384:V349A	ENSP00000359577:V461A	V	-	2	0	HPSE2	100239882	1.000000	0.71417	0.930000	0.37139	0.992000	0.81027	8.852000	0.92215	0.953000	0.37825	0.482000	0.46254	GTG		0.557	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049789.1	NM_021828	
GOT1	2805	broad.mit.edu	37	10	101180428	101180428	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr10:101180428A>C	ENST00000370508.5	-	2	280	c.253T>G	c.(253-255)Tct>Gct	p.S85A	GOT1_ENST00000471741.1_5'UTR|GOT1_ENST00000543866.1_Missense_Mutation_p.S64A	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	85					2-oxoglutarate metabolic process (GO:0006103)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to insulin stimulus (GO:0032869)|fatty acid homeostasis (GO:0055089)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|glycerol biosynthetic process (GO:0006114)|L-methionine biosynthetic process from methylthioadenosine (GO:0019509)|oxaloacetate metabolic process (GO:0006107)|polyamine metabolic process (GO:0006595)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	carboxylic acid binding (GO:0031406)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-cysteine:2-oxoglutarate aminotransferase activity (GO:0047801)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|phosphatidylserine decarboxylase activity (GO:0004609)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)	p.S85A(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)	GCAAGACGAGAAGCACAGCTC	0.468																																					p.S85A	Melanoma(173;770 3544 21601)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T253G	10						.						116.0	111.0	112.0					10																	101180428		2203	4300	6503	101170418	SO:0001583	missense	2805	exon2			M37400	CCDS7479.1	10q24.1-q25.1	2013-05-29	2013-05-29		ENSG00000120053	ENSG00000120053	2.6.1.1		4432	protein-coding gene	gene with protein product	"""aspartate aminotransferase 1"", ""aspartate transaminase 1"""	138180	"""glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1)"""			1974457	Standard	NM_002079		Approved		uc001kpr.3	P17174	OTTHUMG00000018882	ENST00000370508.5:c.253T>G	10.37:g.101180428A>C	ENSP00000359539:p.Ser85Ala		101170418	NM_002079	B2R6R7|B7Z7E9|Q5VW80	Missense_Mutation	SNP	ENST00000370508.5	37	CCDS7479.1	.	.	.	.	.	.	.	.	.	.	A	3.931	-0.016242	0.07681	.	.	ENSG00000120053	ENST00000370508;ENST00000543866	D;D	0.85088	-1.94;-1.94	5.77	5.77	0.91146	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.048823	0.85682	D	0.000000	T	0.67915	0.2944	N	0.04260	-0.245	0.58432	D	0.999992	B;B	0.02656	0.0;0.0	B;B	0.10450	0.005;0.005	T	0.65717	-0.6100	10	0.02654	T	1	-7.3697	16.0561	0.80805	1.0:0.0:0.0:0.0	.	85;85	Q2TU84;P17174	.;AATC_HUMAN	A	85;64	ENSP00000359539:S85A;ENSP00000445578:S64A	ENSP00000359539:S85A	S	-	1	0	GOT1	101170418	1.000000	0.71417	0.976000	0.42696	0.194000	0.23727	6.965000	0.76067	2.326000	0.78906	0.533000	0.62120	TCT		0.468	GOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049794.1	NM_002079	
ABCC2	1244	broad.mit.edu	37	10	101590067	101590067	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr10:101590067A>G	ENST00000370449.4	+	20	2737	c.2624A>G	c.(2623-2625)cAt>cGt	p.H875R		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	875					cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)	p.H875R(1)		NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TCCCTAGTCCATGATGGCAGT	0.493																																					p.H875R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2624G	10						.						115.0	109.0	111.0					10																	101590067		2203	4300	6503	101580057	SO:0001583	missense	1244	exon20			U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.2624A>G	10.37:g.101590067A>G	ENSP00000359478:p.His875Arg		101580057	NM_000392	B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	ENST00000370449.4	37	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	A	7.596	0.671714	0.14776	.	.	ENSG00000023839	ENST00000370449	D	0.88509	-2.39	5.28	3.93	0.45458	.	0.869287	0.10313	N	0.689684	T	0.77772	0.4180	N	0.19112	0.55	0.42333	D	0.992307	B	0.15930	0.015	B	0.04013	0.001	T	0.69483	-0.5133	10	0.17832	T	0.49	-4.2123	4.7782	0.13189	0.6844:0.0:0.1005:0.2152	.	875	Q92887	MRP2_HUMAN	R	875	ENSP00000359478:H875R	ENSP00000359478:H875R	H	+	2	0	ABCC2	101580057	0.911000	0.30947	0.995000	0.50966	0.724000	0.41520	0.583000	0.23849	1.995000	0.58328	0.459000	0.35465	CAT		0.493	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392	
PDZD7	79955	broad.mit.edu	37	10	102778717	102778717	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr10:102778717C>T	ENST00000370215.3	-	8	1411	c.1186G>A	c.(1186-1188)Gcc>Acc	p.A396T		NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	396						cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.A396T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		GAGCGGATGGCGGTGTCCCTG	0.721											OREG0020453	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A396T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1186A	10						.						10.0	13.0	12.0					10																	102778717		2180	4275	6455	102768707	SO:0001583	missense	79955	exon8			AK026862	CCDS31269.1, CCDS73182.1	10q24.32	2006-01-24		2006-01-24	ENSG00000186862	ENSG00000186862			26257	protein-coding gene	gene with protein product		612971		PDZK7		12477932	Standard	NM_024895		Approved	FLJ23209, bA108L7.8	uc021pxc.1	Q9H5P4	OTTHUMG00000018916	ENST00000370215.3:c.1186G>A	10.37:g.102778717C>T	ENSP00000359234:p.Ala396Thr	1369	102768707	NM_001195263	D5FJ77|Q8N321	Missense_Mutation	SNP	ENST00000370215.3	37	CCDS31269.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.187356	0.78789	.	.	ENSG00000186862	ENST00000393462;ENST00000370215	T	0.14144	2.53	5.12	4.22	0.49857	.	0.270585	0.36234	N	0.002710	T	0.21761	0.0524	L	0.31926	0.97	0.41778	D	0.989801	D;B	0.76494	0.999;0.056	P;B	0.61132	0.884;0.018	T	0.01739	-1.1284	10	0.28530	T	0.3	.	13.8409	0.63437	0.0:0.9255:0.0:0.0745	.	396;396	Q9H5P4;Q9H5P4-2	PDZD7_HUMAN;.	T	396	ENSP00000359234:A396T	ENSP00000359234:A396T	A	-	1	0	PDZD7	102768707	0.999000	0.42202	0.878000	0.34440	0.407000	0.30961	4.354000	0.59417	1.159000	0.42565	-0.224000	0.12420	GCC		0.721	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049883.1	NM_024895	
PPRC1	23082	broad.mit.edu	37	10	103907145	103907145	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr10:103907145C>T	ENST00000278070.2	+	9	4435	c.4396C>T	c.(4396-4398)Cga>Tga	p.R1466*	PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000370012.1_Nonsense_Mutation_p.R433*|PPRC1_ENST00000489648.1_Intron	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1466	Arg-rich.|Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R1466*(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CAAGAGGTGGCGAAGGTGAGC	0.517																																					p.R1466X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C4396T	10						.						76.0	65.0	69.0					10																	103907145		2203	4300	6503	103897135	SO:0001587	stop_gained	23082	exon9			AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.4396C>T	10.37:g.103907145C>T	ENSP00000278070:p.Arg1466*		103897135	NM_015062	Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Nonsense_Mutation	SNP	ENST00000278070.2	37	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	C	42	9.379574	0.99153	.	.	ENSG00000148840	ENST00000278070;ENST00000370012	.	.	.	5.76	5.76	0.90799	.	0.612146	0.15811	N	0.243450	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0263	0.64588	0.2652:0.7348:0.0:0.0	.	.	.	.	X	1466;433	.	ENSP00000278070:R1466X	R	+	1	2	PPRC1	103897135	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.625000	0.37029	2.724000	0.93272	0.462000	0.41574	CGA		0.517	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062	
PITX3	5309	broad.mit.edu	37	10	103991528	103991528	+	Silent	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr10:103991528A>G	ENST00000370002.3	-	3	291	c.138T>C	c.(136-138)gcT>gcC	p.A46A	PITX3_ENST00000539804.1_Silent_p.A46A	NM_005029.3	NP_005020.1	O75364	PITX3_HUMAN	paired-like homeodomain 3	46					dopaminergic neuron differentiation (GO:0071542)|lens development in camera-type eye (GO:0002088)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|locomotory behavior (GO:0007626)|midbrain development (GO:0030901)|neuron development (GO:0048666)|organ morphogenesis (GO:0009887)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.A46A(1)		endometrium(1)|large_intestine(2)|lung(2)	5		Colorectal(252;0.00957)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CGGGCAGCGAAGCCGAGGCCT	0.662																																					p.A46A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T138C	10						.						14.0	14.0	14.0					10																	103991528		2199	4298	6497	103981518	SO:0001819	synonymous_variant	5309	exon3				CCDS7532.1	10q24.32	2013-11-14	2007-07-12		ENSG00000107859	ENSG00000107859		"""Homeoboxes / PRD class"""	9006	protein-coding gene	gene with protein product		602669	"""paired-like homeodomain transcription factor 3"", ""anterior segment mesenchymal dysgenesis"""	ASMD		9620774	Standard	NM_005029		Approved		uc001kuu.1	O75364	OTTHUMG00000018952	ENST00000370002.3:c.138T>C	10.37:g.103991528A>G			103981518	NM_005029	Q5VZL2	Silent	SNP	ENST00000370002.3	37	CCDS7532.1																																																																																				0.662	PITX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050031.1		
CNNM2	54805	broad.mit.edu	37	10	104835904	104835904	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr10:104835904C>T	ENST00000369878.4	+	7	2483	c.2295C>T	c.(2293-2295)agC>agT	p.S765S	CNNM2_ENST00000475511.1_3'UTR|CNNM2_ENST00000433628.2_Silent_p.S743S	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	765					magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)	p.S765S(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TCAGTCGAAGCGACCGGATTG	0.517																																					p.S743S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2229T	10						.						61.0	63.0	62.0					10																	104835904		2009	4167	6176	104825894	SO:0001819	synonymous_variant	54805	exon6			AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"""cyclin M2"""	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.2295C>T	10.37:g.104835904C>T			104825894	NM_199076	Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Silent	SNP	ENST00000369878.4	37	CCDS44474.1																																																																																				0.517	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050113.3	NM_017649	
CALHM2	51063	broad.mit.edu	37	10	105209243	105209243	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr10:105209243G>A	ENST00000260743.5	-	3	979	c.456C>T	c.(454-456)caC>caT	p.H152H	CALHM2_ENST00000494180.1_5'Flank|CALHM2_ENST00000393235.1_Silent_p.H152H|RP11-225H22.7_ENST00000608063.1_RNA|CALHM2_ENST00000369788.3_Silent_p.H152H	NM_015916.4	NP_057000.2	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	152					ion transport (GO:0006811)	integral component of membrane (GO:0016021)		p.H152H(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						TTTCAGTGGCGTGGGCTGATG	0.597																																					p.H152H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C456T	10						.						62.0	59.0	60.0					10																	105209243		2203	4300	6503	105199233	SO:0001819	synonymous_variant	51063	exon3			BC000039	CCDS7549.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000138172	ENSG00000138172			23493	protein-coding gene	gene with protein product		612235	"""family with sequence similarity 26, member B"""	FAM26B		18585350	Standard	NM_015916		Approved		uc001kxa.3	Q9HA72	OTTHUMG00000018990	ENST00000260743.5:c.456C>T	10.37:g.105209243G>A			105199233	NM_015916	D3DR94|O95893|Q6ZUV9	Silent	SNP	ENST00000260743.5	37	CCDS7549.1																																																																																				0.597	CALHM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050159.1	NM_015916	
NRAP	4892	broad.mit.edu	37	10	115385835	115385835	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr10:115385835C>T	ENST00000359988.3	-	21	2459	c.2215G>A	c.(2215-2217)Gcc>Acc	p.A739T	NRAP_ENST00000369358.4_Missense_Mutation_p.A747T|NRAP_ENST00000369360.3_Missense_Mutation_p.A712T|NRAP_ENST00000360478.3_Missense_Mutation_p.A704T	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein									p.A739T(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CTCTTCTTGGCGTGCTCCATC	0.592																																					p.A739T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2215A	10						.						103.0	76.0	85.0					10																	115385835		2203	4300	6503	115375825	SO:0001583	missense	4892	exon21				CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.2215G>A	10.37:g.115385835C>T	ENSP00000353078:p.Ala739Thr		115375825	NM_198060		Missense_Mutation	SNP	ENST00000359988.3	37	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	C	36	5.783254	0.96937	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350	T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	D	0.85995	0.5827	M	0.89715	3.055	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;1.0	D	0.86288	0.1672	10	0.49607	T	0.09	.	20.0728	0.97731	0.0:1.0:0.0:0.0	.	419;739;704;739	B1ANW7;A0AVL2;Q86VF7-4;Q86VF7	.;.;.;NRAP_HUMAN	T	747;712;739;704;419	ENSP00000358365:A747T;ENSP00000358367:A712T;ENSP00000353078:A739T;ENSP00000353666:A704T	ENSP00000353078:A739T	A	-	1	0	NRAP	115375825	1.000000	0.71417	0.986000	0.45419	0.980000	0.70556	6.659000	0.74412	2.840000	0.97914	0.655000	0.94253	GCC		0.592	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175	
USP6NL	9712	broad.mit.edu	37	10	11505240	11505240	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr10:11505240C>T	ENST00000609104.1	-	15	2081	c.1687G>A	c.(1687-1689)Gct>Act	p.A563T	USP6NL_ENST00000277575.5_Missense_Mutation_p.A580T|USP6NL_ENST00000379237.2_Missense_Mutation_p.A586T	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	563					Golgi organization (GO:0007030)|plasma membrane to endosome transport (GO:0048227)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of Golgi organization (GO:1903358)|retrograde transport, plasma membrane to Golgi (GO:0035526)|virion assembly (GO:0019068)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.A580T(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						TCCACGGAAGCGCCGCTGTCC	0.647																																					p.A563T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1687A	10						.						40.0	44.0	43.0					10																	11505240		2030	4167	6197	11545246	SO:0001583	missense	9712	exon15			BC010351	CCDS44357.1, CCDS53492.1	10p13	2013-07-09			ENSG00000148429	ENSG00000148429			16858	protein-coding gene	gene with protein product	"""related to the N terminus of tre"""	605405	"""USP6NL intronic transcript 1 (non-protein coding)"""	USP6NL-IT1		8700515, 8700527, 12399475	Standard	XR_247492		Approved	RNTRE, KIAA0019, TRE2NL, RN-tre	uc001iks.1	Q92738	OTTHUMG00000017672	ENST00000609104.1:c.1687G>A	10.37:g.11505240C>T	ENSP00000476462:p.Ala563Thr		11545246	NM_014688	A8KA79|Q15400|Q5VV10|Q7L0K9	Missense_Mutation	SNP	ENST00000609104.1	37	CCDS53492.1	.	.	.	.	.	.	.	.	.	.	C	7.856	0.725090	0.15439	.	.	ENSG00000148429	ENST00000535316;ENST00000277575;ENST00000379237	T;T	0.04015	3.73;3.73	3.67	-0.865	0.10662	.	0.568144	0.16611	N	0.206905	T	0.01870	0.0059	N	0.04508	-0.205	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.04013	0.0;0.001	T	0.48581	-0.9023	10	0.13853	T	0.58	.	6.8182	0.23843	0.0:0.3124:0.0:0.6876	.	563;580	Q92738;Q92738-2	US6NL_HUMAN;.	T	563;580;563	ENSP00000277575:A580T;ENSP00000368539:A563T	ENSP00000277575:A580T	A	-	1	0	USP6NL	11545246	0.039000	0.19947	0.001000	0.08648	0.015000	0.08874	0.454000	0.21827	-0.054000	0.13266	0.313000	0.20887	GCT		0.647	USP6NL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046764.3	NM_014688	
NRAP	4892	broad.mit.edu	37	10	115423631	115423631	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr10:115423631T>C	ENST00000359988.3	-	1	255	c.11A>G	c.(10-12)cAg>cGg	p.Q4R	NRAP_ENST00000369358.4_Missense_Mutation_p.Q4R|NRAP_ENST00000369360.3_Missense_Mutation_p.Q4R|NRAP_ENST00000360478.3_Missense_Mutation_p.Q4R	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein									p.Q4R(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		AGAACAGGGCTGCACATTCAT	0.453																																					p.Q4R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A11G	10						.						103.0	94.0	97.0					10																	115423631		2203	4300	6503	115413621	SO:0001583	missense	4892	exon1				CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.11A>G	10.37:g.115423631T>C	ENSP00000353078:p.Gln4Arg		115413621	NM_198060		Missense_Mutation	SNP	ENST00000359988.3	37	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.161335	0.78226	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.9	5.9	0.94986	Zinc finger, LIM-type (2);	0.000000	0.85682	D	0.000000	T	0.61502	0.2352	M	0.73962	2.25	0.38977	D	0.958879	D;D;D	0.63046	0.986;0.992;0.986	P;D;P	0.64042	0.835;0.921;0.835	T	0.67975	-0.5531	10	0.72032	D	0.01	.	12.214	0.54396	0.0:0.0:0.142:0.858	.	4;4;4	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	R	4	ENSP00000358365:Q4R;ENSP00000358367:Q4R;ENSP00000353078:Q4R;ENSP00000353666:Q4R	ENSP00000353078:Q4R	Q	-	2	0	NRAP	115413621	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	7.063000	0.76714	2.264000	0.75181	0.533000	0.62120	CAG		0.453	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175	
CCDC186	55088	broad.mit.edu	37	10	115894703	115894703	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr10:115894703T>C	ENST00000369287.3	-	10	1890	c.1624A>G	c.(1624-1626)Act>Gct	p.T542A	C10orf118_ENST00000543782.1_Missense_Mutation_p.T140A	NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN		542								p.T542A(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		TGATCTGCAGTTTTCACCTTG	0.299																																					p.T542A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1624G	10						.						101.0	99.0	100.0					10																	115894703		2203	4300	6503	115884693	SO:0001583	missense	55088	exon10																														ENST00000369287.3:c.1624A>G	10.37:g.115894703T>C	ENSP00000358293:p.Thr542Ala		115884693	NM_018017	Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	Missense_Mutation	SNP	ENST00000369287.3	37	CCDS7587.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	2.428|2.428	-0.331551|-0.331551	0.05314|0.05314	.|.	.|.	ENSG00000165813|ENSG00000165813	ENST00000428953|ENST00000369287;ENST00000543782;ENST00000430353	.|T;T	.|0.30448	.|1.53;1.53	6.14|6.14	1.26|1.26	0.21427|0.21427	.|.	.|0.569172	.|0.20829	.|N	.|0.084940	T|T	0.10121|0.10121	0.0248|0.0248	N|N	0.02539|0.02539	-0.55|-0.55	0.09310|0.09310	N|N	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.35871|0.35871	-0.9771|-0.9771	5|10	.|0.08599	.|T	.|0.76	.|.	9.6245|9.6245	0.39741|0.39741	0.0:0.3069:0.0:0.6931|0.0:0.3069:0.0:0.6931	.|.	.|140;542	.|F6VCB7;Q7Z3E2	.|.;CJ118_HUMAN	S|A	170|542;140;648	.|ENSP00000358293:T542A;ENSP00000441576:T140A	.|ENSP00000358293:T542A	N|T	-|-	2|1	0|0	C10orf118|C10orf118	115884693|115884693	0.986000|0.986000	0.35501|0.35501	0.212000|0.212000	0.23672|0.23672	0.616000|0.616000	0.37450|0.37450	1.930000|1.930000	0.40124|0.40124	0.188000|0.188000	0.20168|0.20168	0.529000|0.529000	0.55759|0.55759	AAC|ACT		0.299	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050455.1		
TDRD1	56165	broad.mit.edu	37	10	115950738	115950738	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr10:115950738C>A	ENST00000369280.1	+	3	804	c.344C>A	c.(343-345)cCa>cAa	p.P115Q	TDRD1_ENST00000369282.1_Missense_Mutation_p.P115Q|TDRD1_ENST00000369281.2_Missense_Mutation_p.P115Q|TDRD1_ENST00000251864.2_Missense_Mutation_p.P115Q|TDRD1_ENST00000422662.1_5'UTR			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	115					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)	p.P115Q(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		GTGTCACCACCAAGTGCTGAA	0.308																																					p.P115Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C344A	10						.						141.0	135.0	137.0					10																	115950738		2203	4300	6503	115940728	SO:0001583	missense	56165	exon3			AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.344C>A	10.37:g.115950738C>A	ENSP00000358286:p.Pro115Gln		115940728	NM_198795	A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	ENST00000369280.1	37		.	.	.	.	.	.	.	.	.	.	C	5.510	0.278996	0.10458	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000369280	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	5.41	4.29	0.51040	.	0.209202	0.22814	N	0.055315	T	0.16938	0.0407	N	0.14661	0.345	0.80722	D	1	B;B;P;B	0.35612	0.378;0.144;0.512;0.225	B;B;B;B	0.33121	0.076;0.076;0.158;0.158	T	0.05818	-1.0862	10	0.59425	D	0.04	-0.4262	7.6893	0.28559	0.0:0.0986:0.0:0.9014	.	115;115;115;115	Q9BXT4;B7WPM2;Q9BXT4-3;Q9BXT4-2	TDRD1_HUMAN;.;.;.	Q	115	ENSP00000358288:P115Q;ENSP00000251864:P115Q;ENSP00000358287:P115Q;ENSP00000358286:P115Q	ENSP00000251864:P115Q	P	+	2	0	TDRD1	115940728	0.984000	0.35163	0.892000	0.35008	0.003000	0.03518	1.466000	0.35310	1.012000	0.39366	-0.302000	0.09304	CCA		0.308	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2		
HSPA12A	259217	broad.mit.edu	37	10	118441364	118441364	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr10:118441364C>T	ENST00000369209.3	-	8	964	c.860G>A	c.(859-861)cGg>cAg	p.R287Q		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	287						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.R908Q(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		CCGACTCTGCCGATTACGCCG	0.468											OREG0020558	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R287Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G860A	10						.						113.0	107.0	109.0					10																	118441364		1942	4133	6075	118431354	SO:0001583	missense	259217	exon8			AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"""Heat shock proteins / HSP70"""	19022	protein-coding gene	gene with protein product		610701	"""heat shock 70kD protein 12A"""			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.860G>A	10.37:g.118441364C>T	ENSP00000358211:p.Arg287Gln	1488	118431354	NM_025015		Missense_Mutation	SNP	ENST00000369209.3	37	CCDS41569.1	.	.	.	.	.	.	.	.	.	.	C	36	5.885561	0.97068	.	.	ENSG00000165868	ENST00000369209	T	0.46063	0.88	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.61438	0.2347	L	0.55481	1.735	0.80722	D	1	D	0.76494	0.999	D	0.65684	0.937	T	0.55811	-0.8082	10	0.46703	T	0.11	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	287	O43301	HS12A_HUMAN	Q	287	ENSP00000358211:R287Q	ENSP00000358211:R287Q	R	-	2	0	HSPA12A	118431354	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.445000	0.80570	2.865000	0.98341	0.655000	0.94253	CGG		0.468	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	NM_025015	
CAMK1D	57118	broad.mit.edu	37	10	12866523	12866523	+	Missense_Mutation	SNP	G	G	A	rs201893185		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr10:12866523G>A	ENST00000378847.3	+	9	1230	c.893G>A	c.(892-894)cGg>cAg	p.R298Q	CAMK1D_ENST00000378845.1_Missense_Mutation_p.R298Q	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	298	Autoinhibitory domain. {ECO:0000250}.				inflammatory response (GO:0006954)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis (GO:0050766)|positive regulation of respiratory burst (GO:0060267)|regulation of dendrite development (GO:0050773)|regulation of granulocyte chemotaxis (GO:0071622)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.R298Q(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		GCCCAGATCCGGAAAAACTTT	0.502																																					p.R298Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G893A	10						.						81.0	74.0	77.0					10																	12866523		2203	4300	6503	12906529	SO:0001583	missense	57118	exon9			AF286366	CCDS7091.1, CCDS7092.1	10p13	2003-11-05			ENSG00000183049	ENSG00000183049			19341	protein-coding gene	gene with protein product		607957				11050006	Standard	XM_006717481		Approved	CKLiK	uc001ilo.3	Q8IU85	OTTHUMG00000017683	ENST00000378847.3:c.893G>A	10.37:g.12866523G>A	ENSP00000368124:p.Arg298Gln		12906529	NM_020397	B0YIY0|Q9HD31	Missense_Mutation	SNP	ENST00000378847.3	37	CCDS7091.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.148895	0.37923	.	.	ENSG00000183049	ENST00000378847;ENST00000378845	T;T	0.39787	1.06;1.06	5.37	5.37	0.77165	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.29423	0.0733	N	0.17674	0.51	0.58432	D	0.999999	P;B	0.47762	0.9;0.007	B;B	0.38683	0.279;0.005	T	0.04454	-1.0950	10	0.23891	T	0.37	-16.3269	18.454	0.90713	0.0:0.0:1.0:0.0	.	298;298	Q8IU85;Q5SQQ7	KCC1D_HUMAN;.	Q	298	ENSP00000368124:R298Q;ENSP00000368122:R298Q	ENSP00000368122:R298Q	R	+	2	0	CAMK1D	12906529	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	2.324000	0.43831	2.666000	0.90696	0.561000	0.74099	CGG		0.502	CAMK1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046820.1	NM_020397	
CUZD1	50624	broad.mit.edu	37	10	124594302	124594302	+	Missense_Mutation	SNP	A	A	T	rs370233601		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr10:124594302A>T	ENST00000368904.1	-	9	2251	c.1302T>A	c.(1300-1302)aaT>aaA	p.N434K	CUZD1_ENST00000392790.1_Missense_Mutation_p.N434K|CUZD1_ENST00000545804.1_Missense_Mutation_p.N434K					CUB and zona pellucida-like domains 1									p.N434K(1)		NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		ACACCACCAAATTTGGATCTG	0.383																																					p.N434K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1302A	10						.	A	LYS/ASN	0,4406		0,0,2203	62.0	61.0	62.0		1302	2.8	0.8	10		62	1,8599	1.2+/-3.3	0,1,4299	no	missense	CUZD1	NM_022034.5	94	0,1,6502	TT,TA,AA		0.0116,0.0,0.0077	possibly-damaging	434/608	124594302	1,13005	2203	4300	6503	124584292	SO:0001583	missense	50624	exon7			AF305835	CCDS7631.1	10q26.13	2003-11-18			ENSG00000138161	ENSG00000138161			17937	protein-coding gene	gene with protein product						10542259	Standard	NM_022034		Approved	ERG-1, UO-44		Q86UP6	OTTHUMG00000019195	ENST00000368904.1:c.1302T>A	10.37:g.124594302A>T	ENSP00000357900:p.Asn434Lys		124584292	NM_022034		Missense_Mutation	SNP	ENST00000368904.1	37	CCDS7631.1	.	.	.	.	.	.	.	.	.	.	A	15.13	2.740829	0.49151	0.0	1.16E-4	ENSG00000138161	ENST00000368904;ENST00000368901;ENST00000368900;ENST00000338948;ENST00000368899;ENST00000545804;ENST00000392790	T;T;T	0.46451	0.87;0.87;0.87	5.03	2.76	0.32466	Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.284114	0.39020	N	0.001481	T	0.40119	0.1104	M	0.76938	2.355	0.23909	N	0.996495	P	0.43231	0.801	B	0.41374	0.355	T	0.35895	-0.9770	10	0.44086	T	0.13	-14.0565	4.2936	0.10890	0.4994:0.1731:0.3275:0.0	.	434	Q86UP6	CUZD1_HUMAN	K	434;153;153;68;153;434;434	ENSP00000357900:N434K;ENSP00000441590:N434K;ENSP00000376540:N434K	ENSP00000340905:N68K	N	-	3	2	CUZD1	124584292	0.001000	0.12720	0.828000	0.32881	0.943000	0.58893	-0.157000	0.10085	0.324000	0.23333	0.377000	0.23210	AAT		0.383	CUZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050829.2	NM_022034	
FAM208B	54906	broad.mit.edu	37	10	5784337	5784337	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr10:5784337C>T	ENST00000328090.5	+	14	3230	c.2605C>T	c.(2605-2607)Cgt>Tgt	p.R869C	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	869								p.R869C(1)									AGTATCCTTCCGTGATCCTAA	0.428																																					p.R869C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2605T	10						.						163.0	154.0	157.0					10																	5784337		1906	4130	6036	5824343	SO:0001583	missense	54906	exon14			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.2605C>T	10.37:g.5784337C>T	ENSP00000328426:p.Arg869Cys		5824343	NM_017782	Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	C	9.689	1.151375	0.21371	.	.	ENSG00000108021	ENST00000328090	D	0.97598	-4.45	5.4	0.329	0.15924	.	0.633246	0.15671	N	0.250364	D	0.92551	0.7634	N	0.22421	0.69	0.09310	N	1	P	0.46277	0.875	B	0.42112	0.376	D	0.86781	0.1979	10	0.72032	D	0.01	.	9.2122	0.37326	0.0:0.6083:0.0:0.3917	.	869	Q5VWN6	F208B_HUMAN	C	869	ENSP00000328426:R869C	ENSP00000328426:R869C	R	+	1	0	C10orf18	5824343	0.210000	0.23517	0.076000	0.20297	0.032000	0.12392	0.384000	0.20668	0.084000	0.17077	0.650000	0.86243	CGT		0.428	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782	
SFMBT2	57713	broad.mit.edu	37	10	7318895	7318895	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr10:7318895T>C	ENST00000361972.4	-	7	919	c.829A>G	c.(829-831)Att>Gtt	p.I277V	SFMBT2_ENST00000397167.1_Missense_Mutation_p.I277V	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	277					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)	p.I277V(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GCAGCATCAATAAGGGATTTT	0.358																																					p.I277V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A829G	10						.						159.0	152.0	155.0					10																	7318895		2203	4300	6503	7358901	SO:0001583	missense	57713	exon7			AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.829A>G	10.37:g.7318895T>C	ENSP00000355109:p.Ile277Val		7358901	NM_001029880	A7MD09|Q9HCF5	Missense_Mutation	SNP	ENST00000361972.4	37	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	T	7.482	0.648946	0.14516	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.40476	1.03;1.03	5.83	2.21	0.28008	.	0.652897	0.16759	N	0.200706	T	0.19406	0.0466	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16837	-1.0389	10	0.30078	T	0.28	.	5.494	0.16791	0.0:0.2044:0.1348:0.6607	.	277	Q5VUG0	SMBT2_HUMAN	V	277	ENSP00000355109:I277V;ENSP00000380353:I277V	ENSP00000355109:I277V	I	-	1	0	SFMBT2	7358901	0.965000	0.33210	0.119000	0.21687	0.958000	0.62258	0.180000	0.16860	0.129000	0.18514	0.533000	0.62120	ATT		0.358	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880	
KIN	22944	broad.mit.edu	37	10	7822233	7822233	+	De_novo_Start_OutOfFrame	SNP	G	G	A	rs543372718		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr10:7822233G>A	ENST00000543003.1	-	0	208				KIN_ENST00000535925.1_Missense_Mutation_p.R83C|KIN_ENST00000379562.4_Missense_Mutation_p.R83C					Kin17 DNA and RNA binding protein									p.R83C(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						TTACCAAAGCGTCTCCTGAGA	0.313													G|||	1	0.000199681	0.0	0.0	5008	,	,		20264	0.001		0.0	False		,,,				2504	0.0				p.R83C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C247T	10						.						108.0	107.0	107.0					10																	7822233		2203	4300	6503	7862239			22944	exon3			AJ005273	CCDS7080.1	10p15-p14	2014-07-15	2014-07-15		ENSG00000151657	ENSG00000151657			6327	protein-coding gene	gene with protein product		601720	"""antigenic determinant of recA protein (mouse) homolog"", ""KIN, antigenic determinant of recA protein homolog (mouse)"""			1923796, 24140279	Standard	NM_012311		Approved	KIN17, Rts2	uc001ijt.3	O60870	OTTHUMG00000017634	ENST00000543003.1:c.-72C>T	10.37:g.7822233G>A			7862239	NM_012311		Missense_Mutation	SNP	ENST00000543003.1	37		.	.	.	.	.	.	.	.	.	.	G	22.9	4.352439	0.82132	.	.	ENSG00000151657	ENST00000535925;ENST00000379562	.	.	.	6.02	5.12	0.69794	DNA/RNA-binding protein Kin17, conserved domain (1);	0.106283	0.64402	D	0.000002	T	0.70395	0.3219	M	0.84433	2.695	0.80722	D	1	B;B	0.19583	0.037;0.037	B;B	0.20767	0.031;0.031	T	0.69960	-0.5003	9	0.52906	T	0.07	-6.5828	13.343	0.60555	0.0723:0.0:0.9277:0.0	.	83;83	B4DX32;O60870	.;KIN17_HUMAN	C	83	.	ENSP00000368881:R83C	R	-	1	0	KIN	7862239	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.259000	0.58828	1.554000	0.49487	0.655000	0.94253	CGC		0.313	KIN-202	KNOWN	basic	protein_coding	protein_coding		NM_012311	
CACNB2	783	broad.mit.edu	37	10	18828493	18828493	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr10:18828493G>A	ENST00000324631.7	+	14	1883	c.1823G>A	c.(1822-1824)cGt>cAt	p.R608H	CACNB2_ENST00000377328.1_Missense_Mutation_p.R358H|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377315.4_Missense_Mutation_p.R560H|CACNB2_ENST00000396576.2_Missense_Mutation_p.R553H|CACNB2_ENST00000377331.2_Missense_Mutation_p.R556H|CACNB2_ENST00000282343.8_Missense_Mutation_p.R580H|CACNB2_ENST00000377329.4_Missense_Mutation_p.R554H|CACNB2_ENST00000377319.3_Missense_Mutation_p.R515H|CACNB2_ENST00000352115.6_Missense_Mutation_p.R584H|RP11-499P20.2_ENST00000436485.1_RNA	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	608					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)	p.R553H(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TCCCGGCACCGTTCCCGGGAC	0.582																																					p.R608H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1823A	10						.						90.0	71.0	77.0					10																	18828493		2203	4300	6503	18868499	SO:0001583	missense	783	exon14			U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"""Calcium channel subunits"""	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.1823G>A	10.37:g.18828493G>A	ENSP00000320025:p.Arg608His		18868499	NM_201596	A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Missense_Mutation	SNP	ENST00000324631.7	37	CCDS7125.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.550400	0.45383	.	.	ENSG00000165995	ENST00000324631;ENST00000352115;ENST00000377328;ENST00000282343;ENST00000377331;ENST00000396576;ENST00000377319;ENST00000377329;ENST00000377315	D;T;D;D;T;D;D;D;D	0.83506	-1.67;1.97;-1.73;-1.67;1.97;-1.7;-1.7;-1.7;-1.71	5.91	4.06	0.47325	.	0.060059	0.64402	D	0.000005	D	0.83635	0.5297	N	0.21373	0.66	0.80722	D	1	B;D;D;B;B;D;D;D;D;D;B;B;D	0.89917	0.001;1.0;1.0;0.084;0.008;1.0;1.0;0.99;0.989;1.0;0.054;0.026;1.0	B;D;D;B;B;D;D;P;P;D;B;B;D	0.87578	0.001;0.996;0.964;0.009;0.006;0.997;0.996;0.781;0.77;0.998;0.017;0.024;0.996	T	0.83127	-0.0115	10	0.39692	T	0.17	-7.3682	12.1148	0.53860	0.1375:0.0:0.8625:0.0	.	522;580;358;560;530;554;564;515;556;580;570;584;608	B7Z1U5;Q5QJA0;A6PVM6;Q5VVH1;Q6TME1;Q08289-3;Q59H42;Q08289-6;A6PVM7;Q08289-4;Q08289-7;Q08289-8;Q08289	.;.;.;.;.;.;.;.;.;.;.;.;CACB2_HUMAN	H	608;584;358;580;556;553;515;554;560	ENSP00000320025:R608H;ENSP00000344474:R584H;ENSP00000366545:R358H;ENSP00000282343:R580H;ENSP00000366548:R556H;ENSP00000379821:R553H;ENSP00000366536:R515H;ENSP00000366546:R554H;ENSP00000366532:R560H	ENSP00000282343:R580H	R	+	2	0	CACNB2	18868499	1.000000	0.71417	0.694000	0.30210	0.719000	0.41307	7.946000	0.87746	1.521000	0.48983	0.655000	0.94253	CGT		0.582	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	NM_000724	
KIAA1217	56243	broad.mit.edu	37	10	24809124	24809124	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr10:24809124C>T	ENST00000376454.3	+	11	2280	c.2250C>T	c.(2248-2250)gaC>gaT	p.D750D	KIAA1217_ENST00000307544.6_Silent_p.D433D|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000376462.1_Silent_p.D670D|KIAA1217_ENST00000376451.2_Silent_p.D433D|KIAA1217_ENST00000458595.1_Silent_p.D715D|KIAA1217_ENST00000396446.1_Silent_p.D433D|KIAA1217_ENST00000376452.3_Silent_p.D715D|KIAA1217_ENST00000396445.1_Silent_p.D433D	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	750					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)		p.D750D(1)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CTCTGAAAGACGTGGAAGACG	0.547																																					p.D750D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2250T	10						.						154.0	156.0	155.0					10																	24809124		2203	4300	6503	24849130	SO:0001819	synonymous_variant	56243	exon11			BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.2250C>T	10.37:g.24809124C>T			24849130	NM_019590	A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Silent	SNP	ENST00000376454.3	37	CCDS31165.1																																																																																				0.547	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590	
KIAA1217	56243	broad.mit.edu	37	10	24822124	24822124	+	Silent	SNP	G	G	A	rs140819336	byFrequency	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr10:24822124G>A	ENST00000376454.3	+	16	3402	c.3372G>A	c.(3370-3372)gaG>gaA	p.E1124E	KIAA1217_ENST00000307544.6_Silent_p.E807E|KIAA1217_ENST00000376462.1_Silent_p.E1044E|KIAA1217_ENST00000376451.2_Silent_p.E807E|KIAA1217_ENST00000458595.1_Silent_p.E1089E|KIAA1217_ENST00000396446.1_Silent_p.E807E|KIAA1217_ENST00000376452.3_Silent_p.E1088E|KIAA1217_ENST00000396445.1_Silent_p.E807E	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1124					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)		p.E1124E(1)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AGGATGAGGAGGAAGAAGAAG	0.557																																					p.E1124E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3372A	10						.						71.0	74.0	73.0					10																	24822124		2203	4300	6503	24862130	SO:0001819	synonymous_variant	56243	exon16			BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.3372G>A	10.37:g.24822124G>A			24862130	NM_019590	A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Silent	SNP	ENST00000376454.3	37	CCDS31165.1																																																																																				0.557	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590	
MYO3A	53904	broad.mit.edu	37	10	26455033	26455033	+	Missense_Mutation	SNP	C	C	T	rs140154015	byFrequency	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr10:26455033C>T	ENST00000265944.5	+	27	3203	c.3037C>T	c.(3037-3039)Cgc>Tgc	p.R1013C	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1013	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R1013C(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CGAGGAGCCCCGCATGAGCCC	0.453													C|||	7	0.00139776	0.003	0.0043	5008	,	,		17688	0.0		0.0	False		,,,				2504	0.0				p.R1013C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3037T	10						.	C	CYS/ARG	7,4399	12.9+/-30.5	0,7,2196	160.0	173.0	169.0		3037	5.2	0.9	10	dbSNP_134	169	0,8600		0,0,4300	yes	missense	MYO3A	NM_017433.4	180	0,7,6496	TT,TC,CC		0.0,0.1589,0.0538	possibly-damaging	1013/1617	26455033	7,12999	2203	4300	6503	26495039	SO:0001583	missense	53904	exon27			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.3037C>T	10.37:g.26455033C>T	ENSP00000265944:p.Arg1013Cys		26495039	NM_017433	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	CCDS7148.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	12.08	1.830046	0.32329	0.001589	0.0	ENSG00000095777	ENST00000265944	D	0.87491	-2.26	6.07	5.17	0.71159	Myosin head, motor domain (2);	0.258100	0.45361	D	0.000374	T	0.77605	0.4155	L	0.31476	0.935	0.80722	D	1	P	0.37500	0.597	B	0.23275	0.045	T	0.77373	-0.2612	10	0.37606	T	0.19	.	15.2394	0.73455	0.0:0.9332:0.0:0.0668	.	1013	Q8NEV4	MYO3A_HUMAN	C	1013	ENSP00000265944:R1013C	ENSP00000265944:R1013C	R	+	1	0	MYO3A	26495039	1.000000	0.71417	0.863000	0.33907	0.163000	0.22366	3.521000	0.53472	1.588000	0.49971	0.650000	0.86243	CGC		0.453	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433	
PDSS1	23590	broad.mit.edu	37	10	27024477	27024477	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr10:27024477delC	ENST00000376215.5	+	10	1048	c.995delC	c.(994-996)gccfs	p.A332fs	PDSS1_ENST00000376203.5_Intron|PDSS1_ENST00000470978.1_3'UTR	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 1	332					isoprenoid biosynthetic process (GO:0008299)|protein heterotetramerization (GO:0051290)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial matrix (GO:0005759)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|trans-hexaprenyltranstransferase activity (GO:0000010)|trans-octaprenyltranstransferase activity (GO:0050347)	p.T333fs*14(1)		autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						CTCGGGTTAGCCACTGGTCCT	0.498																																					p.A332fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.995delC	10						.						131.0	114.0	120.0					10																	27024477		2203	4300	6503	27064483	SO:0001589	frameshift_variant	23590	exon10			AF118395	CCDS31168.1	10p12.2	2006-04-12	2006-02-14	2006-02-14	ENSG00000148459	ENSG00000148459			17759	protein-coding gene	gene with protein product	"""coenzyme Q1 homolog (yeast)"""	607429	"""trans-prenyltransferase"""	TPRT		10972372	Standard	NM_014317		Approved	TPT, COQ1	uc001isv.3	Q5T2R2	OTTHUMG00000017844	ENST00000376215.5:c.995delC	10.37:g.27024477delC	ENSP00000365388:p.Ala332fs		27064483	NM_014317	Q53F75|Q6P473|Q86WQ8|Q9Y2W5	Frame_Shift_Del	DEL	ENST00000376215.5	37	CCDS31168.1																																																																																				0.498	PDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047276.1		
YME1L1	10730	broad.mit.edu	37	10	27434419	27434419	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr10:27434419delT	ENST00000326799.3	-	4	588	c.440delA	c.(439-441)aacfs	p.N147fs	YME1L1_ENST00000477432.1_3'UTR|YME1L1_ENST00000375972.3_Frame_Shift_Del_p.N90fs|YME1L1_ENST00000376016.3_Frame_Shift_Del_p.N90fs	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	147					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.N147fs*24(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						GGAAGAAATGTTTTTGCCTTT	0.328																																					p.N90fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.269delA	10						.						98.0	102.0	101.0					10																	27434419		2203	4300	6503	27474425	SO:0001589	frameshift_variant	10730	exon3			AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"""ATPases / AAA-type"""	12843	protein-coding gene	gene with protein product		607472	"""YME1 (S.cerevisiae)-like 1"", ""YME1-like 1 (S. cerevisiae)"""			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.440delA	10.37:g.27434419delT	ENSP00000318480:p.Asn147fs		27474425	NM_014263	B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Frame_Shift_Del	DEL	ENST00000326799.3	37	CCDS7152.1																																																																																				0.328	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1	NM_139312	
KIAA1462	57608	broad.mit.edu	37	10	30318282	30318282	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr10:30318282G>A	ENST00000375377.1	-	3	896	c.795C>T	c.(793-795)tgC>tgT	p.C265C		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	265	Pro-rich.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)		p.C265C(1)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						AATTTGGTGCGCAAGTGGGAG	0.517																																					p.C265C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C795T	10						.						97.0	99.0	98.0					10																	30318282		1953	4145	6098	30358288	SO:0001819	synonymous_variant	57608	exon3			AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.795C>T	10.37:g.30318282G>A			30358288	NM_020848	Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Silent	SNP	ENST00000375377.1	37	CCDS41500.1																																																																																				0.517	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848	
MAP3K8	1326	broad.mit.edu	37	10	30747105	30747105	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr10:30747105G>A	ENST00000263056.1	+	7	1662	c.966G>A	c.(964-966)acG>acA	p.T322T	MAP3K8_ENST00000375321.1_Silent_p.T322T|MAP3K8_ENST00000542547.1_Silent_p.T322T	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	322	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|protein phosphorylation (GO:0006468)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)	p.T322T(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				ACATGCAGACGGGCACCCCAC	0.602																																					p.T322T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G966A	10						.						70.0	68.0	69.0					10																	30747105		2203	4300	6503	30787111	SO:0001819	synonymous_variant	1326	exon7			D14497	CCDS7166.1	10p11.2	2011-06-09			ENSG00000107968	ENSG00000107968		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6860	protein-coding gene	gene with protein product		191195		COT, ESTF		2072910, 8479752	Standard	NM_005204		Approved	Tpl-2, EST, c-COT, MEKK8	uc009xlf.2	P41279	OTTHUMG00000017889	ENST00000263056.1:c.966G>A	10.37:g.30747105G>A			30787111	NM_005204	A8K2Q5|D3DRX1|Q14275|Q5T855|Q9HC81	Silent	SNP	ENST00000263056.1	37	CCDS7166.1																																																																																				0.602	MAP3K8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047416.2	NM_005204	
FZD8	8325	broad.mit.edu	37	10	35930083	35930083	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr10:35930083T>C	ENST00000374694.1	-	1	279	c.275A>G	c.(274-276)tAc>tGc	p.Y92C	MIR4683_ENST00000579659.1_RNA	NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled class receptor 8	92	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.Y92C(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						GATGGGCGTGTACATGCTGCA	0.662																																					p.Y92C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A275G	10						.						77.0	68.0	71.0					10																	35930083		2203	4300	6503	35970089	SO:0001583	missense	8325	exon1			AB043703	CCDS7192.1	10p11.2	2014-01-29	2014-01-29		ENSG00000177283	ENSG00000177283		"""GPCR / Class F : Frizzled receptors"""	4046	protein-coding gene	gene with protein product		606146	"""frizzled (Drosophila) homolog 8"", ""frizzled homolog 8 (Drosophila)"", ""frizzled 8, seven transmembrane spanning receptor"", ""frizzled family receptor 8"""			11295046	Standard	NM_031866		Approved		uc001iyz.1	Q9H461	OTTHUMG00000017956	ENST00000374694.1:c.275A>G	10.37:g.35930083T>C	ENSP00000363826:p.Tyr92Cys		35970089	NM_031866		Missense_Mutation	SNP	ENST00000374694.1	37	CCDS7192.1	.	.	.	.	.	.	.	.	.	.	t	15.98	2.992302	0.54041	.	.	ENSG00000177283	ENST00000374694	T	0.76968	-1.06	3.74	3.74	0.42951	Frizzled domain (5);	0.000000	0.64402	U	0.000005	D	0.90947	0.7154	H	0.95950	3.745	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	D	0.93053	0.6467	10	0.87932	D	0	.	12.3971	0.55391	0.0:0.0:0.0:1.0	.	92	Q9H461	FZD8_HUMAN	C	92	ENSP00000363826:Y92C	ENSP00000363826:Y92C	Y	-	2	0	FZD8	35970089	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.830000	0.86741	1.486000	0.48398	0.364000	0.22116	TAC		0.662	FZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047575.2	NM_031866	
ZNF37A	7587	broad.mit.edu	37	10	38403792	38403792	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr10:38403792G>A	ENST00000361085.5	+	5	470	c.125G>A	c.(124-126)aGc>aAc	p.S42N	ZNF37A_ENST00000479469.1_3'UTR|ZNF37A_ENST00000351773.3_Missense_Mutation_p.S42N	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	42	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						GAGAACTACAGCCACCTTGTC	0.468																																					p.S42N												.	.	0			c.G125A	10						.						109.0	100.0	103.0					10																	38403792		2203	4300	6503	38443798	SO:0001583	missense	7587	exon6			X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407		"""Zinc fingers, C2H2-type"", ""-"""	13102	protein-coding gene	gene with protein product			"""zinc finger protein 37a (KOX 21)"""			2014798, 8464732	Standard	NM_001178101		Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.125G>A	10.37:g.38403792G>A	ENSP00000354377:p.Ser42Asn		38443798	NM_001007094	B3KRQ3|D3DRZ3|Q96B88	Missense_Mutation	SNP	ENST00000361085.5	37	CCDS31183.1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.539700	0.27563	.	.	ENSG00000075407	ENST00000351773;ENST00000361085	T;T	0.02050	4.48;4.48	2.55	2.55	0.30701	Krueppel-associated box (4);	.	.	.	.	T	0.03520	0.0101	M	0.78223	2.4	0.24721	N	0.993141	P	0.45594	0.862	B	0.39379	0.298	T	0.37337	-0.9710	9	0.30854	T	0.27	.	5.3521	0.16042	0.1655:0.0:0.8345:0.0	.	42	P17032	ZN37A_HUMAN	N	42	ENSP00000329141:S42N;ENSP00000354377:S42N	ENSP00000329141:S42N	S	+	2	0	ZNF37A	38443798	0.008000	0.16893	0.956000	0.39512	0.906000	0.53458	2.001000	0.40825	1.424000	0.47217	0.460000	0.39030	AGC		0.468	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047624.2	NM_003421	
ANK3	288	broad.mit.edu	37	10	61830729	61830729	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr10:61830729G>A	ENST00000280772.2	-	37	10101	c.9910C>T	c.(9910-9912)Cca>Tca	p.P3304S	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3304					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.P3304S(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GGTGAAGGTGGCTGCACTCTA	0.438																																					p.P3304S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C9910T	10						.						147.0	145.0	146.0					10																	61830729		2203	4300	6503	61500735	SO:0001583	missense	288	exon37			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.9910C>T	10.37:g.61830729G>A	ENSP00000280772:p.Pro3304Ser		61500735	NM_020987	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.936345	0.73442	.	.	ENSG00000151150	ENST00000280772	D	0.93426	-3.22	5.48	5.48	0.80851	.	0.000000	0.41823	D	0.000808	D	0.96185	0.8756	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.95749	0.8790	10	0.49607	T	0.09	.	19.359	0.94428	0.0:0.0:1.0:0.0	.	3304	Q12955	ANK3_HUMAN	S	3304	ENSP00000280772:P3304S	ENSP00000280772:P3304S	P	-	1	0	ANK3	61500735	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	9.476000	0.97823	2.584000	0.87258	0.561000	0.74099	CCA		0.438	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987	
EGR2	1959	broad.mit.edu	37	10	64573427	64573427	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr10:64573427C>T	ENST00000242480.3	-	2	1296	c.971G>A	c.(970-972)cGc>cAc	p.R324H	EGR2_ENST00000439032.1_Missense_Mutation_p.R324H|EGR2_ENST00000493899.2_5'Flank|EGR2_ENST00000411732.1_Missense_Mutation_p.R274H	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	324					brain development (GO:0007420)|brain segmentation (GO:0035284)|cell death (GO:0008219)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|facial nerve structural organization (GO:0021612)|fat cell differentiation (GO:0045444)|learning or memory (GO:0007611)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein sumoylation (GO:0016925)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ossification (GO:0030278)|response to insulin (GO:0032868)|rhombomere 3 formation (GO:0021660)|rhombomere 5 formation (GO:0021666)|rhythmic behavior (GO:0007622)|Schwann cell differentiation (GO:0014037)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)	p.R324H(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					GGGGTACTTGCGAGGCCTCAG	0.692																																					p.R324H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G971A	10						.						32.0	36.0	35.0					10																	64573427		2203	4300	6503	64243433	SO:0001583	missense	1959	exon2			BC035625	CCDS7267.1, CCDS44409.1	10q21.1	2014-09-17	2009-04-23		ENSG00000122877	ENSG00000122877		"""Zinc fingers, C2H2-type"""	3239	protein-coding gene	gene with protein product	"""Krox-20 homolog, Drosophila"""	129010	"""early growth response 2 (Krox-20 homolog, Drosophila)"""	KROX20			Standard	NM_000399		Approved		uc001jmi.3	P11161	OTTHUMG00000018308	ENST00000242480.3:c.971G>A	10.37:g.64573427C>T	ENSP00000242480:p.Arg324His		64243433	NM_000399	B2R724|B3KRD7|Q68CZ5|Q8IV26|Q9UNA6	Missense_Mutation	SNP	ENST00000242480.3	37	CCDS7267.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.214436	0.79352	.	.	ENSG00000122877	ENST00000242480;ENST00000439032;ENST00000411732	T;T;T	0.14391	2.51;2.51;2.57	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.39410	0.1077	M	0.76328	2.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.991	T	0.24297	-1.0164	10	0.87932	D	0	-19.114	17.1426	0.86758	0.0:1.0:0.0:0.0	.	274;324	P11161-2;P11161	.;EGR2_HUMAN	H	324;324;274	ENSP00000242480:R324H;ENSP00000402040:R324H;ENSP00000387634:R274H	ENSP00000242480:R324H	R	-	2	0	EGR2	64243433	0.985000	0.35326	1.000000	0.80357	0.999000	0.98932	5.910000	0.69931	2.570000	0.86706	0.655000	0.94253	CGC		0.692	EGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048245.2	NM_000399	
SIRT1	23411	broad.mit.edu	37	10	69667817	69667817	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr10:69667817G>A	ENST00000212015.6	+	6	1158	c.1105G>A	c.(1105-1107)Gca>Aca	p.A369T	SIRT1_ENST00000403579.1_Missense_Mutation_p.A66T|SIRT1_ENST00000406900.1_Missense_Mutation_p.A66T|SIRT1_ENST00000432464.1_Missense_Mutation_p.A74T	NM_012238.4	NP_036370.2	Q96EB6	SIR1_HUMAN	sirtuin 1	369	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.|Interaction with CCAR2.				angiogenesis (GO:0001525)|cell aging (GO:0007569)|cellular glucose homeostasis (GO:0001678)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to starvation (GO:0009267)|cellular response to tumor necrosis factor (GO:0071356)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|chromatin organization (GO:0006325)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|establishment of chromatin silencing (GO:0006343)|fatty acid homeostasis (GO:0055089)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of chromatin silencing (GO:0006344)|methylation-dependent chromatin silencing (GO:0006346)|muscle organ development (GO:0007517)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of cell growth (GO:0030308)|negative regulation of cellular response to testosterone stimulus (GO:2000655)|negative regulation of cellular senescence (GO:2000773)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of helicase activity (GO:0051097)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of neuron death (GO:1901215)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostaglandin biosynthetic process (GO:0031393)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of TOR signaling (GO:0032007)|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)|ovulation from ovarian follicle (GO:0001542)|peptidyl-lysine acetylation (GO:0018394)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular senescence (GO:2000774)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of chromatin silencing (GO:0031937)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA repair (GO:0045739)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of macroautophagy (GO:0016239)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deacetylation (GO:0006476)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cell proliferation (GO:0042127)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle (GO:0007346)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of smooth muscle cell apoptotic process (GO:0034391)|response to hydrogen peroxide (GO:0042542)|response to insulin (GO:0032868)|response to oxidative stress (GO:0006979)|rRNA processing (GO:0006364)|single strand break repair (GO:0000012)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|triglyceride mobilization (GO:0006642)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|rDNA heterochromatin (GO:0033553)	bHLH transcription factor binding (GO:0043425)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase activity (GO:0004407)|HLH domain binding (GO:0043398)|identical protein binding (GO:0042802)|keratin filament binding (GO:1990254)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent protein deacetylase activity (GO:0034979)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.A369T(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						CTTTGCAACAGCATCTTGCCT	0.313																																					p.A74T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G220A	10						.						155.0	150.0	152.0					10																	69667817		2203	4299	6502	69337823	SO:0001583	missense	23411	exon5			AF083106	CCDS7273.1, CCDS44412.1	10q21	2010-06-25	2010-06-25		ENSG00000096717	ENSG00000096717			14929	protein-coding gene	gene with protein product		604479	"""sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 1"", ""sirtuin (silent mating type information regulation 2 homolog) 1 (S. cerevisiae)"""			10381378	Standard	NM_012238		Approved	SIR2L1	uc001jnd.3	Q96EB6	OTTHUMG00000018340	ENST00000212015.6:c.1105G>A	10.37:g.69667817G>A	ENSP00000212015:p.Ala369Thr		69337823	NM_001142498	Q2XNF6|Q5JVQ0|Q9GZR9|Q9Y6F0	Missense_Mutation	SNP	ENST00000212015.6	37	CCDS7273.1	.	.	.	.	.	.	.	.	.	.	G	35	5.442237	0.96187	.	.	ENSG00000096717	ENST00000212015;ENST00000432464;ENST00000406900;ENST00000403579	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.71710	0.3372	M	0.79614	2.46	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.996;0.999	T	0.74346	-0.3695	10	0.87932	D	0	-17.6613	19.3636	0.94453	0.0:0.0:1.0:0.0	.	66;369	B0QZ35;Q96EB6	.;SIRT1_HUMAN	T	369;74;66;66	ENSP00000212015:A369T;ENSP00000409208:A74T;ENSP00000384508:A66T;ENSP00000384063:A66T	ENSP00000212015:A369T	A	+	1	0	SIRT1	69337823	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.682000	0.91365	0.650000	0.86243	GCA		0.313	SIRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048296.1		
SUPV3L1	6832	broad.mit.edu	37	10	70949179	70949179	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr10:70949179G>C	ENST00000359655.4	+	5	789	c.729G>C	c.(727-729)aaG>aaC	p.K243N	SUPV3L1_ENST00000483572.1_3'UTR	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	243	Helicase ATP-binding.				ATP catabolic process (GO:0006200)|chromatin maintenance (GO:0070827)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA surveillance (GO:0035946)|mitochondrial ncRNA surveillance (GO:0035945)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA surveillance (GO:2000827)|mitochondrion morphogenesis (GO:0070584)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|RNA catabolic process (GO:0006401)	mitochondrial degradosome (GO:0045025)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3'-5' RNA helicase activity (GO:0034458)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)	p.K243N(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCTTCGAAAAGAGTAATGCTG	0.358																																					p.K243N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G729C	10						.						78.0	75.0	76.0					10																	70949179		2203	4300	6503	70619185	SO:0001583	missense	6832	exon5			AF042169	CCDS7287.1	10q22.1	2008-08-01	2001-11-28		ENSG00000156502	ENSG00000156502			11471	protein-coding gene	gene with protein product		605122	"""suppressor of var1 (S.cerevisiae) 3-like 1"""			9925937, 16176273	Standard	XM_005270068		Approved	SUV3	uc001jpe.1	Q8IYB8	OTTHUMG00000018375	ENST00000359655.4:c.729G>C	10.37:g.70949179G>C	ENSP00000352678:p.Lys243Asn		70619185	NM_003171	A8K301|O43630	Missense_Mutation	SNP	ENST00000359655.4	37	CCDS7287.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082367	0.76528	.	.	ENSG00000156502	ENST00000359655	T	0.17054	2.3	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.48624	0.1510	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.50866	-0.8777	10	0.87932	D	0	-2.2944	19.9944	0.97379	0.0:0.0:1.0:0.0	.	243	Q8IYB8	SUV3_HUMAN	N	243	ENSP00000352678:K243N	ENSP00000352678:K243N	K	+	3	2	SUPV3L1	70619185	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.730000	0.62015	2.720000	0.93068	0.557000	0.71058	AAG		0.358	SUPV3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048396.2	NM_003171	
HK1	3098	broad.mit.edu	37	10	71152030	71152030	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr10:71152030G>T	ENST00000359426.6	+	15	2289	c.2185G>T	c.(2185-2187)Gtg>Ttg	p.V729L	HK1_ENST00000298649.3_Missense_Mutation_p.V728L|HK1_ENST00000360289.2_Missense_Mutation_p.V717L|HK1_ENST00000448642.2_Missense_Mutation_p.V764L|HK1_ENST00000404387.2_Missense_Mutation_p.V733L	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1	729	Catalytic.|Hexokinase type-2 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cell death (GO:0008219)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)	p.V733L(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						CGACAGACTGGTGGACGAATA	0.577											OREG0020217	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.V733L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2197T	10						.						105.0	94.0	98.0					10																	71152030		2203	4300	6503	70822036	SO:0001583	missense	3098	exon18			M75126	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	10q22	2014-09-17			ENSG00000156515	ENSG00000156515	2.7.1.1		4922	protein-coding gene	gene with protein product		142600					Standard	NM_033496		Approved		uc001jpi.4	P19367	OTTHUMG00000018380	ENST00000359426.6:c.2185G>T	10.37:g.71152030G>T	ENSP00000352398:p.Val729Leu	1127	70822036	NM_033498	E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	Missense_Mutation	SNP	ENST00000359426.6	37	CCDS7292.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.581458	0.46006	.	.	ENSG00000156515	ENST00000360289;ENST00000448642;ENST00000404387;ENST00000298649;ENST00000359426;ENST00000405407	D;D;D;D;D	0.96200	-3.94;-3.94;-3.94;-3.94;-3.94	4.47	4.47	0.54385	Hexokinase, C-terminal (1);	0.060146	0.64402	D	0.000004	D	0.91855	0.7422	L	0.35542	1.07	0.58432	D	0.999998	B;B;B;B;P	0.34629	0.067;0.068;0.038;0.011;0.46	B;B;B;B;B	0.31547	0.132;0.081;0.132;0.031;0.077	D	0.91789	0.5442	10	0.48119	T	0.1	-25.5401	17.3863	0.87416	0.0:0.0:1.0:0.0	.	729;728;764;733;717	P19367;P19367-2;E7ENR4;P19367-3;P19367-4	HXK1_HUMAN;.;.;.;.	L	717;764;733;728;729;729	ENSP00000353433:V717L;ENSP00000402103:V764L;ENSP00000384774:V733L;ENSP00000298649:V728L;ENSP00000352398:V729L	ENSP00000298649:V728L	V	+	1	0	HK1	70822036	1.000000	0.71417	0.996000	0.52242	0.314000	0.28054	7.812000	0.86109	2.351000	0.79841	0.644000	0.83932	GTG		0.577	HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048429.2	NM_000188	
ANXA7	310	broad.mit.edu	37	10	75143371	75143371	+	Silent	SNP	C	C	T	rs113051613	byFrequency	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr10:75143371C>T	ENST00000372921.5	-	8	767	c.711G>A	c.(709-711)acG>acA	p.T237T	RP11-537A6.9_ENST00000427492.1_RNA|ANXA7_ENST00000492380.1_5'UTR|ANXA7_ENST00000535178.1_Silent_p.T107T	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7	259					autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular calcium ion homeostasis (GO:0006874)|cellular water homeostasis (GO:0009992)|epithelial cell differentiation (GO:0030855)|hemostasis (GO:0007599)|membrane fusion (GO:0061025)|negative regulation of gene expression (GO:0010629)|regulation of cell shape (GO:0008360)|response to calcium ion (GO:0051592)|response to organic cyclic compound (GO:0014070)|response to salt stress (GO:0009651)|social behavior (GO:0035176)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|integrin binding (GO:0005178)|poly(A) RNA binding (GO:0044822)	p.T259T(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					CATCGTAATACGTAGGAGGCA	0.348													c|||	21	0.00419329	0.0106	0.0029	5008	,	,		17054	0.0		0.0	False		,,,				2504	0.0051				p.T237T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G711A	10						.	T	,	37,4369	41.6+/-74.8	0,37,2166	112.0	105.0	108.0		711,777	-11.1	0.0	10	dbSNP_132	108	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ANXA7	NM_001156.3,NM_004034.2	,	0,37,6466	TT,TC,CC		0.0,0.8398,0.2845	,	237/467,259/489	75143371	37,12969	2203	4300	6503	74813377	SO:0001819	synonymous_variant	310	exon8			J04543	CCDS7325.1, CCDS7326.1	10q22.2	2005-11-09			ENSG00000138279	ENSG00000138279		"""Annexins"""	545	protein-coding gene	gene with protein product		186360		ANX7		7515686	Standard	NM_001156		Approved		uc001jtz.2	P20073	OTTHUMG00000018463	ENST00000372921.5:c.711G>A	10.37:g.75143371C>T			74813377	NM_001156	Q5F2H3|Q5T0M6|Q5T0M7	Silent	SNP	ENST00000372921.5	37	CCDS7325.1																																																																																				0.348	ANXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048646.2	NM_001156	
CCSER2	54462	broad.mit.edu	37	10	86130906	86130906	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr10:86130906G>A	ENST00000224756.8	+	2	283	c.98G>A	c.(97-99)gGg>gAg	p.G33E	CCSER2_ENST00000372088.2_Missense_Mutation_p.G33E|CCSER2_ENST00000359979.4_Missense_Mutation_p.G33E	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	33					microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)		p.G33E(1)									ATGCCAAATGGGACACCTGTT	0.343																																					p.G33E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G98A	10						.						54.0	55.0	55.0					10																	86130906		2203	4300	6503	86120886	SO:0001583	missense	54462	exon2				CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771			29197	protein-coding gene	gene with protein product			"""KIAA1128"", ""family with sequence similarity 190, member B"""	KIAA1128, FAM190B		10574461	Standard	XM_005269905		Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	ENST00000224756.8:c.98G>A	10.37:g.86130906G>A	ENSP00000224756:p.Gly33Glu		86120886	NM_018999	B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Missense_Mutation	SNP	ENST00000224756.8	37	CCDS31235.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.840767	0.51057	.	.	ENSG00000107771	ENST00000359979;ENST00000224756;ENST00000372088	T;T;T	0.61158	0.13;1.52;1.41	6.06	5.16	0.70880	.	0.000000	0.64402	D	0.000004	T	0.72558	0.3475	M	0.62723	1.935	0.34738	D	0.730474	D;P;D	0.89917	0.992;0.928;1.0	P;P;D	0.97110	0.822;0.463;1.0	T	0.81833	-0.0751	10	0.72032	D	0.01	-10.7734	13.2625	0.60113	0.0764:0.0:0.9236:0.0	.	33;33;33	Q9H7U1-3;Q9H7U1;Q9H7U1-2	.;F190B_HUMAN;.	E	33	ENSP00000353068:G33E;ENSP00000224756:G33E;ENSP00000361160:G33E	ENSP00000224756:G33E	G	+	2	0	FAM190B	86120886	1.000000	0.71417	0.760000	0.31359	0.970000	0.65996	6.152000	0.71812	1.569000	0.49696	0.655000	0.94253	GGG		0.343	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049132.2	NM_018999	
CCSER2	54462	broad.mit.edu	37	10	86132008	86132008	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr10:86132008G>A	ENST00000224756.8	+	2	1385	c.1200G>A	c.(1198-1200)tcG>tcA	p.S400S	CCSER2_ENST00000372088.2_Silent_p.S400S|CCSER2_ENST00000359979.4_Silent_p.S400S	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	400					microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)		p.S400S(1)									TTTCCTTGTCGTCTTTGTCAT	0.328																																					p.S400S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1200A	10						.						106.0	103.0	104.0					10																	86132008		2203	4300	6503	86121988	SO:0001819	synonymous_variant	54462	exon2				CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771			29197	protein-coding gene	gene with protein product			"""KIAA1128"", ""family with sequence similarity 190, member B"""	KIAA1128, FAM190B		10574461	Standard	XM_005269905		Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	ENST00000224756.8:c.1200G>A	10.37:g.86132008G>A			86121988	NM_018999	B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Silent	SNP	ENST00000224756.8	37	CCDS31235.1																																																																																				0.328	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049132.2	NM_018999	
LIPK	643414	broad.mit.edu	37	10	90512405	90512405	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr10:90512405C>T	ENST00000404190.1	+	9	1092	c.1092C>T	c.(1090-1092)taC>taT	p.Y364Y		NM_001080518.1	NP_001073987.1	Q5VXJ0	LIPK_HUMAN	lipase, family member K	364					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		TTATTTATTACAAGCTGATTC	0.373																																					p.Y364Y												.	.	0			c.C1092T	10						.						50.0	48.0	49.0					10																	90512405		1863	4104	5967	90502385	SO:0001819	synonymous_variant	643414	exon9				CCDS44455.1	10q23.31	2008-02-04	2007-02-27	2007-02-27	ENSG00000204021	ENSG00000204021			23444	protein-coding gene	gene with protein product		613922	"""lipase-like, ab-hydrolase domain containing 2"""	LIPL2			Standard	NM_001080518		Approved	bA186O14.2	uc010qmv.2	Q5VXJ0	OTTHUMG00000018693	ENST00000404190.1:c.1092C>T	10.37:g.90512405C>T			90502385	NM_001080518	A7KIH8	Silent	SNP	ENST00000404190.1	37	CCDS44455.1																																																																																				0.373	LIPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049253.2	XM_061222	
CH25H	9023	broad.mit.edu	37	10	90966295	90966295	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr10:90966295G>A	ENST00000371852.2	-	1	776	c.755C>T	c.(754-756)cCg>cTg	p.P252L		NM_003956.3	NP_003947.1	O95992	CH25H_HUMAN	cholesterol 25-hydroxylase	252					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol metabolic process (GO:0008203)|fatty acid biosynthetic process (GO:0006633)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cholesterol 25-hydroxylase activity (GO:0001567)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)	p.P252L(1)		kidney(1)|large_intestine(2)|lung(3)|stomach(1)	7		Colorectal(252;0.0161)		GBM - Glioblastoma multiforme(2;0.000133)		TGTAAAGTACGGAGCGAAGTT	0.582																																					p.P252L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C755T	10						.						66.0	49.0	55.0					10																	90966295		2203	4300	6503	90956275	SO:0001583	missense	9023	exon1			AF059212	CCDS7400.1	10q23	2013-03-04			ENSG00000138135	ENSG00000138135	1.14.99.38	"""Fatty acid hydroxylase domain containing"""	1907	protein-coding gene	gene with protein product		604551				9852097	Standard	NM_003956		Approved		uc001kfz.3	O95992	OTTHUMG00000018705	ENST00000371852.2:c.755C>T	10.37:g.90966295G>A	ENSP00000360918:p.Pro252Leu		90956275	NM_003956	B2RBY3	Missense_Mutation	SNP	ENST00000371852.2	37	CCDS7400.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.610739	0.87258	.	.	ENSG00000138135	ENST00000371852	T	0.70749	-0.51	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.79598	0.4473	L	0.42744	1.35	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.78778	-0.2071	10	0.45353	T	0.12	-22.7653	18.1501	0.89672	0.0:0.0:1.0:0.0	.	252	O95992	CH25H_HUMAN	L	252	ENSP00000360918:P252L	ENSP00000360918:P252L	P	-	2	0	CH25H	90956275	1.000000	0.71417	0.908000	0.35775	0.731000	0.41821	9.618000	0.98365	2.699000	0.92147	0.563000	0.77884	CCG		0.582	CH25H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049291.1	NM_003956	
RPP30	10556	broad.mit.edu	37	10	92638843	92638843	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr10:92638843G>A	ENST00000371703.3	+	5	565	c.294G>A	c.(292-294)cgG>cgA	p.R98R	Y_RNA_ENST00000410373.1_RNA|RPP30_ENST00000413330.1_Silent_p.R98R	NM_006413.4	NP_006404.1	P78346	RPP30_HUMAN	ribonuclease P/MRP 30kDa subunit	98					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ribonuclease P activity (GO:0004526)	p.R98R(1)		central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						CAAGGGCCCGGCTCTATGATG	0.328																																					p.R98R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G294A	10						.						94.0	99.0	97.0					10																	92638843		2203	4298	6501	92628823	SO:0001819	synonymous_variant	10556	exon5			BC006991	CCDS7411.1, CCDS44458.1	10q23.32-q23.33	2012-05-21			ENSG00000148688	ENSG00000148688			17688	protein-coding gene	gene with protein product		606115				9037013, 9308968	Standard	NM_006413		Approved	TSG15	uc001khd.2	P78346	OTTHUMG00000018733	ENST00000371703.3:c.294G>A	10.37:g.92638843G>A			92628823	NM_006413	B2R799|E9PB02	Silent	SNP	ENST00000371703.3	37	CCDS7411.1																																																																																				0.328	RPP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049347.1	NM_006413	
BTAF1	9044	broad.mit.edu	37	10	93749219	93749219	+	Silent	SNP	G	G	A	rs142341012	byFrequency	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr10:93749219G>A	ENST00000265990.6	+	20	3044	c.2736G>A	c.(2734-2736)acG>acA	p.T912T		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	912					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T912T(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				CAACAAGGACGCCCTGTCCCA	0.403																																					p.T912T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2736A	10						.	G		1,4405	2.1+/-5.4	0,1,2202	77.0	83.0	81.0		2736	-10.5	0.9	10	dbSNP_134	81	0,8600		0,0,4300	no	coding-synonymous	BTAF1	NM_003972.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		912/1850	93749219	1,13005	2203	4300	6503	93739199	SO:0001819	synonymous_variant	9044	exon20			AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.2736G>A	10.37:g.93749219G>A			93739199	NM_003972	B4E0W6|O43578	Silent	SNP	ENST00000265990.6	37	CCDS7419.1																																																																																				0.403	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972	
AVPI1	60370	broad.mit.edu	37	10	99439530	99439530	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr10:99439530G>A	ENST00000370626.3	-	2	700	c.133C>T	c.(133-135)Cgc>Tgc	p.R45C		NM_021732.2	NP_068378.2	Q5T686	AVPI1_HUMAN	arginine vasopressin-induced 1	45					activation of MAPK activity (GO:0000187)|cell cycle (GO:0007049)			p.R45C(1)		breast(1)|endometrium(1)|large_intestine(2)|skin(1)	5		Colorectal(252;0.162)		Epithelial(162;8.37e-11)|all cancers(201;7.94e-09)		TCCCCGCTGCGTTGAAACAGG	0.662																																					p.R45C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C133T	10						.						39.0	29.0	33.0					10																	99439530		2203	4300	6503	99429520	SO:0001583	missense	60370	exon2			AF131791	CCDS7470.1	10q24.2	2004-04-05			ENSG00000119986	ENSG00000119986			30898	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_021732		Approved	VIP32, PP5395, VIT32	uc001koi.2	Q5T686	OTTHUMG00000018864	ENST00000370626.3:c.133C>T	10.37:g.99439530G>A	ENSP00000359660:p.Arg45Cys		99429520	NM_021732	Q53G32|Q9H2R9|Q9HBN9	Missense_Mutation	SNP	ENST00000370626.3	37	CCDS7470.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.973775	0.74246	.	.	ENSG00000119986	ENST00000370626	T	0.32515	1.45	5.09	5.09	0.68999	.	.	.	.	.	T	0.42337	0.1198	L	0.36672	1.1	0.41102	D	0.985676	D	0.89917	1.0	D	0.69824	0.966	T	0.21655	-1.0239	9	0.54805	T	0.06	-1.3763	10.9289	0.47207	0.0:0.0:0.7083:0.2917	.	45	Q5T686	AVPI1_HUMAN	C	45	ENSP00000359660:R45C	ENSP00000359660:R45C	R	-	1	0	AVPI1	99429520	0.984000	0.35163	1.000000	0.80357	0.898000	0.52572	1.626000	0.37039	2.637000	0.89404	0.561000	0.74099	CGC		0.662	AVPI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049736.1	NM_021732	
PPP2R2D	55844	broad.mit.edu	37	10	133769200	133769200	+	3'UTR	SNP	C	C	T	rs375643367		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr10:133769200C>T	ENST00000470416.1	+	0	585				PPP2R2D_ENST00000422256.2_3'UTR			Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B, delta						exit from mitosis (GO:0010458)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.T138T(1)|p.T334T(1)		endometrium(3)|large_intestine(3)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)		CCATCATGACCGGGTCCTATA	0.597																																					p.R333W												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C997T	10						.	C		1,4075		0,1,2037	45.0	47.0	47.0		997	-7.2	0.7	10		47	0,8422		0,0,4211	no	coding-synonymous	PPP2R2D	NM_018461.3		0,1,6248	TT,TC,CC		0.0,0.0245,0.0080		365/454	133769200	1,12497	2038	4211	6249	133619190	SO:0001624	3_prime_UTR_variant	55844	exon7			AF220046	CCDS73224.1	10q26.3	2013-01-10	2010-06-18		ENSG00000175470	ENSG00000175470		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	23732	protein-coding gene	gene with protein product	"""PP2A subunit B isoform delta"""	613992	"""protein phosphatase 2, regulatory subunit B, delta isoform"""			10819331	Standard	XM_005277927		Approved	MDS026	uc001lks.3	Q66LE6	OTTHUMG00000019277	ENST00000470416.1:c.*582C>T	10.37:g.133769200C>T			133619190	NM_018461	A8KAK0|Q5SQJ2|Q9P1Y7	Silent	SNP	ENST00000470416.1	37																																																																																					0.597	PPP2R2D-005	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000051038.1	NM_018461	
NPAT	4863	broad.mit.edu	37	11	108032701	108032702	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	-	-	-	C	-	-	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:108032701_108032702insC	ENST00000278612.8	-	17	3216_3217	c.3111_3112insG	c.(3109-3114)gggaaafs	p.K1038fs		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	1038					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.K1038fs*20(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TCTGATTTTTTCCCAAGATCTG	0.376																																					p.K1038fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.3112_3113insG	11						.																																			107537912	SO:0001589	frameshift_variant	4863	exon17			X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.3112dupG	11.37:g.108032704_108032704dupC	ENSP00000278612:p.Lys1038fs		107537911	NM_002519	A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Frame_Shift_Ins	INS	ENST00000278612.8	37	CCDS41710.1																																																																																				0.376	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519	
PGR	5241	broad.mit.edu	37	11	100912816	100912816	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:100912816G>A	ENST00000325455.5	-	7	3959	c.2506C>T	c.(2506-2508)Cga>Tga	p.R836*	PGR_ENST00000534013.1_Nonsense_Mutation_p.R242*|PGR_ENST00000263463.5_Nonsense_Mutation_p.R734*	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	836	Steroid-binding.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.R836*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	GTTTGACTTCGTAGCCCTTCC	0.383																																					p.R836X	Pancreas(124;2271 2354 21954 22882)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2506T	11						.						81.0	79.0	80.0					11																	100912816		2203	4300	6503	100418026	SO:0001587	stop_gained	5241	exon7			M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.2506C>T	11.37:g.100912816G>A	ENSP00000325120:p.Arg836*		100418026	NM_000926	A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Nonsense_Mutation	SNP	ENST00000325455.5	37	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	G	38	6.831522	0.97869	.	.	ENSG00000082175	ENST00000325455;ENST00000534013;ENST00000263463	.	.	.	5.49	3.07	0.35406	.	0.057039	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	12.3407	0.55093	0.0:0.0:0.2716:0.7284	.	.	.	.	X	836;242;734	.	ENSP00000263463:R734X	R	-	1	2	PGR	100418026	1.000000	0.71417	0.998000	0.56505	0.928000	0.56348	3.902000	0.56310	0.348000	0.23949	-0.375000	0.07067	CGA		0.383	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1		
ANGPTL5	253935	broad.mit.edu	37	11	101776475	101776475	+	Splice_Site	SNP	C	C	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:101776475C>A	ENST00000334289.3	-	4	940	c.345G>T	c.(343-345)caG>caT	p.Q115H		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	115						extracellular region (GO:0005576)		p.Q115H(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		ACATCTATACCTGATTAGATA	0.308																																					p.Q115H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G345T	11						.						129.0	125.0	126.0					11																	101776475		2202	4294	6496	101281685	SO:0001630	splice_region_variant	253935	exon4			BC049170	CCDS8312.1	11q22.2	2013-02-06				ENSG00000187151		"""Fibrinogen C domain containing"""	19705	protein-coding gene	gene with protein product		607666				12624729	Standard	NM_178127		Approved		uc001pgl.3	Q86XS5		ENST00000334289.3:c.345+1G>T	11.37:g.101776475C>A			101281685	NM_178127	A8K658|Q86VR9	Missense_Mutation	SNP	ENST00000334289.3	37	CCDS8312.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.305504	0.60305	.	.	ENSG00000187151	ENST00000334289;ENST00000534527	T;T	0.77358	0.32;-1.09	5.14	4.22	0.49857	.	0.000000	0.85682	D	0.000000	D	0.85283	0.5661	M	0.66939	2.045	0.45390	D	0.998379	D	0.76494	0.999	D	0.68192	0.956	D	0.85249	0.1043	9	.	.	.	.	13.9797	0.64297	0.0:0.9249:0.0:0.0751	.	115	Q86XS5	ANGL5_HUMAN	H	115	ENSP00000335255:Q115H;ENSP00000433562:Q115H	.	Q	-	3	2	ANGPTL5	101281685	1.000000	0.71417	1.000000	0.80357	0.728000	0.41692	3.912000	0.56386	1.273000	0.44346	0.591000	0.81541	CAG		0.308	ANGPTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394138.1	NM_178127	Missense_Mutation
MMP7	4316	broad.mit.edu	37	11	102398260	102398260	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:102398260C>T	ENST00000260227.4	-	3	531	c.479G>A	c.(478-480)cGa>cAa	p.R160Q		NM_002423.3	NP_002414.1	P09237	MMP7_HUMAN	matrix metallopeptidase 7 (matrilysin, uterine)	160					antibacterial peptide secretion (GO:0002779)|collagen catabolic process (GO:0030574)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell proliferation (GO:0042127)|response to drug (GO:0042493)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R160Q(1)		large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)	Marimastat(DB00786)	CTTACCTCCTCGCGCAAAGCC	0.408																																					p.R160Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G479A	11						.						109.0	111.0	110.0					11																	102398260		2203	4299	6502	101903470	SO:0001583	missense	4316	exon3			Z11887	CCDS8317.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000137673	ENSG00000137673	3.4.24.23		7174	protein-coding gene	gene with protein product		178990	"""matrix metalloproteinase 7 (matrilysin, uterine)"""	MPSL1		8978768	Standard	NM_002423		Approved	PUMP-1	uc001phb.3	P09237	OTTHUMG00000048193	ENST00000260227.4:c.479G>A	11.37:g.102398260C>T	ENSP00000260227:p.Arg160Gln		101903470	NM_002423	Q9BTK9	Missense_Mutation	SNP	ENST00000260227.4	37	CCDS8317.1	.	.	.	.	.	.	.	.	.	.	C	11.53	1.667454	0.29604	.	.	ENSG00000137673	ENST00000260227	T	0.53857	0.6	4.73	3.81	0.43845	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.978663	0.08305	N	0.966350	T	0.67221	0.2870	M	0.64404	1.975	0.09310	N	1	D;D;D	0.89917	1.0;0.995;1.0	D;P;D	0.91635	0.999;0.677;0.967	T	0.53143	-0.8480	10	0.22109	T	0.4	-3.8589	9.7206	0.40300	0.0:0.8381:0.0:0.1619	.	160;160;160	B4DDW4;Q53GF1;P09237	.;.;MMP7_HUMAN	Q	160	ENSP00000260227:R160Q	ENSP00000260227:R160Q	R	-	2	0	MMP7	101903470	0.000000	0.05858	0.932000	0.37286	0.640000	0.38277	-0.319000	0.08039	2.166000	0.68216	0.563000	0.77884	CGA		0.408	MMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109633.2		
MMP27	64066	broad.mit.edu	37	11	102575419	102575419	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:102575419G>A	ENST00000260229.4	-	2	281	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	64					collagen catabolic process (GO:0030574)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R64W(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	Marimastat(DB00786)	TGCATTTCCCGAATTTTGTCA	0.428																																					p.R64W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C190T	11						.						91.0	87.0	89.0					11																	102575419		2203	4299	6502	102080629	SO:0001583	missense	64066	exon2			AF195192	CCDS8319.1	11q24	2008-07-18	2005-08-08		ENSG00000137675	ENSG00000137675			14250	protein-coding gene	gene with protein product	"""matrix metalloprotease 27"""		"""matrix metalloproteinase 27"""			10419448	Standard	NM_022122		Approved		uc001phd.1	Q9H306	OTTHUMG00000168099	ENST00000260229.4:c.190C>T	11.37:g.102575419G>A	ENSP00000260229:p.Arg64Trp		102080629	NM_022122	Q6UWK6	Missense_Mutation	SNP	ENST00000260229.4	37	CCDS8319.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.708846	0.48517	.	.	ENSG00000137675	ENST00000260229	T	0.42513	0.97	5.55	5.55	0.83447	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	0.378222	0.22952	N	0.053647	T	0.68522	0.3010	M	0.89904	3.07	0.36003	D	0.837522	D	0.76494	0.999	P	0.62089	0.898	T	0.79293	-0.1863	10	0.87932	D	0	.	15.3331	0.74229	0.0:0.0:0.8599:0.1401	.	64	Q9H306	MMP27_HUMAN	W	64	ENSP00000260229:R64W	ENSP00000260229:R64W	R	-	1	2	MMP27	102080629	0.048000	0.20356	0.993000	0.49108	0.386000	0.30323	2.100000	0.41777	2.894000	0.99253	0.591000	0.81541	CGG		0.428	MMP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398128.1	NM_022122	
DYNC2H1	79659	broad.mit.edu	37	11	103068690	103068690	+	Silent	SNP	G	G	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:103068690G>T	ENST00000375735.2	+	48	7881	c.7737G>T	c.(7735-7737)cgG>cgT	p.R2579R	DYNC2H1_ENST00000398093.3_Silent_p.R2579R|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2579					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.R12R(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GGGGAGCTCGGCATAATTCAG	0.383																																					p.R2579R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G7737T	11						.						47.0	43.0	44.0					11																	103068690		1883	4097	5980	102573900	SO:0001819	synonymous_variant	79659	exon48			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.7737G>T	11.37:g.103068690G>T			102573900	NM_001377	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Silent	SNP	ENST00000375735.2	37	CCDS53701.1																																																																																				0.383	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652	
MRVI1	10335	broad.mit.edu	37	11	10615730	10615730	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:10615730G>T	ENST00000436272.1	-	15	2027	c.1949C>A	c.(1948-1950)cCt>cAt	p.P650H	MRVI1-AS1_ENST00000529829.1_RNA|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1_ENST00000552103.1_Missense_Mutation_p.P586H|MRVI1_ENST00000541483.1_Missense_Mutation_p.P471H|LYVE1_ENST00000531706.1_Intron|MRVI1-AS1_ENST00000525578.1_RNA|MRVI1_ENST00000558540.1_Missense_Mutation_p.P362H|MRVI1_ENST00000534266.2_Missense_Mutation_p.P362H|MRVI1_ENST00000547195.1_Missense_Mutation_p.P586H|MRVI1_ENST00000545852.1_Missense_Mutation_p.P362H|MRVI1_ENST00000527509.2_Missense_Mutation_p.P586H|MRVI1_ENST00000423302.2_Missense_Mutation_p.P677H|MRVI1_ENST00000421747.1_Missense_Mutation_p.P668H|MRVI1_ENST00000531107.1_Missense_Mutation_p.P669H|MRVI1_ENST00000424001.1_Missense_Mutation_p.P362H			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	650				P -> L (in Ref. 1; AAD25922/AAD25923). {ECO:0000305}.	blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)		p.P650H(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TGCCGTGCGAGGGACCCCATC	0.532																																					p.P586H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1757A	11						.						66.0	70.0	68.0					11																	10615730		2039	4182	6221	10572306	SO:0001583	missense	10335	exon16			AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"""inositol 1,4,5-triphosphate-associated cGMP kinase substrate"", ""IP3R-associated cGMP kinase substrate"""	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.1949C>A	11.37:g.10615730G>T	ENSP00000412229:p.Pro650His		10572306	NM_001100163	B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Missense_Mutation	SNP	ENST00000436272.1	37		.	.	.	.	.	.	.	.	.	.	G	28.1	4.894416	0.91889	.	.	ENSG00000072952	ENST00000421747;ENST00000308763;ENST00000436272;ENST00000547195;ENST00000552103;ENST00000545852;ENST00000424001;ENST00000423302;ENST00000541483;ENST00000531107;ENST00000527509	T;T;T;T;T;T;T;T;T;T	0.15017	2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46	5.48	5.48	0.80851	.	0.060612	0.64402	D	0.000002	T	0.41811	0.1175	M	0.61703	1.905	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.77004	0.98;0.989;0.989;0.98	T	0.08638	-1.0712	10	0.48119	T	0.1	-5.962	19.3576	0.94421	0.0:0.0:1.0:0.0	.	471;650;669;668	F5H6A1;Q9Y6F6;E9PQY6;Q9Y6F6-4	.;MRVI1_HUMAN;.;.	H	668;651;650;586;586;362;362;677;471;669;586	ENSP00000414598:P668H;ENSP00000412229:P650H;ENSP00000448278:P586H;ENSP00000446764:P586H;ENSP00000441971:P362H;ENSP00000401205:P362H;ENSP00000412130:P677H;ENSP00000437784:P471H;ENSP00000432436:P669H;ENSP00000432067:P586H	ENSP00000307885:P651H	P	-	2	0	MRVI1	10572306	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.146000	0.94640	2.589000	0.87451	0.655000	0.94253	CCT		0.532	MRVI1-203	KNOWN	basic	protein_coding	protein_coding		NM_001098579	
CASP1	834	broad.mit.edu	37	11	104897042	104897042	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:104897042C>T	ENST00000533400.1	-	9	1193	c.1158G>A	c.(1156-1158)atG>atA	p.M386I	CASP1_ENST00000526568.1_Missense_Mutation_p.M293I|CASP1_ENST00000525825.1_Missense_Mutation_p.M365I|CASP1_ENST00000598974.1_Missense_Mutation_p.M386I|CASP1_ENST00000593315.1_Missense_Mutation_p.M365I|CASP1_ENST00000353247.5_Missense_Mutation_p.M70I|CASP1_ENST00000531166.1_Missense_Mutation_p.M70I|CASP1_ENST00000436863.3_Missense_Mutation_p.M386I|CASP1_ENST00000446369.1_Missense_Mutation_p.M245I|CASP1_ENST00000594519.1_Missense_Mutation_p.M245I|CASP1_ENST00000415981.2_Missense_Mutation_p.M70I|CASP1_ENST00000393136.4_Missense_Mutation_p.M365I|CASP1_ENST00000534497.1_Missense_Mutation_p.M245I|CASP1_ENST00000527979.1_Missense_Mutation_p.M349I	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	386					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic substance (GO:0071310)|execution phase of apoptosis (GO:0097194)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|membrane hyperpolarization (GO:0060081)|mitochondrial depolarization (GO:0051882)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|programmed necrotic cell death (GO:0097300)|proteolysis (GO:0006508)|pyroptosis (GO:0070269)|regulation of inflammatory response (GO:0050727)|response to ATP (GO:0033198)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|IPAF inflammasome complex (GO:0072557)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|endopeptidase activity (GO:0004175)	p.M386I(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)	CAGTGGTGGGCATCTGCGCTC	0.398																																					p.M70I	NSCLC(41;1246 1743 4934)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G210A	11						.						90.0	88.0	89.0					11																	104897042		2202	4299	6501	104402252	SO:0001583	missense	834	exon4			U13697	CCDS8329.1, CCDS8330.1, CCDS8331.1, CCDS8332.1, CCDS53704.1	11q23	2012-02-29	2012-02-29		ENSG00000137752	ENSG00000137752		"""Caspases"""	1499	protein-coding gene	gene with protein product	"""caspase-1"", ""interleukin 1, beta, convertase"""	147678	"""caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase)"", ""caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)"""	IL1BC		1373520, 9250871	Standard	NM_033292		Approved	ICE	uc001pim.5	P29466	OTTHUMG00000048072	ENST00000533400.1:c.1158G>A	11.37:g.104897042C>T	ENSP00000433138:p.Met386Ile		104402252	NM_033295	B5MDZ1|Q53EY6|Q6DMQ1|Q6GSS3|Q6PI75|Q9UCN3	Missense_Mutation	SNP	ENST00000533400.1	37	CCDS8330.1	.	.	.	.	.	.	.	.	.	.	.	15.42	2.827971	0.50845	.	.	ENSG00000137752	ENST00000526568;ENST00000527979;ENST00000533400;ENST00000436863;ENST00000415981;ENST00000446369;ENST00000353247;ENST00000393136;ENST00000525825;ENST00000531166;ENST00000534497	T;T;T;T;T;T;T;T;T;T;T	0.42513	4.01;4.01;4.01;4.01;0.97;0.97;0.97;4.01;4.01;0.97;0.97	4.2	4.2	0.49525	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase non-catalytic subunit p10 (1);Peptidase C14, caspase precursor p45, core (1);	0.040549	0.85682	D	0.000000	T	0.52693	0.1750	L	0.39467	1.215	0.50171	D	0.999853	D;D;D;D;D;D	0.89917	0.982;0.982;1.0;1.0;1.0;0.999	D;D;D;D;D;D	0.79784	0.961;0.961;0.987;0.993;0.987;0.978	T	0.43621	-0.9380	10	0.27082	T	0.32	.	14.4387	0.67301	0.0:1.0:0.0:0.0	.	70;245;365;386;349;293	P29466-5;P29466-4;P29466-2;P29466;G3V169;P29466-3	.;.;.;CASP1_HUMAN;.;.	I	293;349;386;386;70;245;70;365;365;70;245	ENSP00000434250:M293I;ENSP00000432340:M349I;ENSP00000433138:M386I;ENSP00000410076:M386I;ENSP00000408446:M70I;ENSP00000403260:M245I;ENSP00000344132:M70I;ENSP00000376844:M365I;ENSP00000434779:M365I;ENSP00000434303:M70I;ENSP00000436875:M245I	ENSP00000344132:M70I	M	-	3	0	CASP1	104402252	1.000000	0.71417	1.000000	0.80357	0.099000	0.18886	5.967000	0.70403	2.322000	0.78497	0.460000	0.39030	ATG		0.398	CASP1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388116.1	NM_033292	
EIF4G2	1982	broad.mit.edu	37	11	10827530	10827530	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:10827530G>A	ENST00000526148.1	-	4	682	c.172C>T	c.(172-174)Cga>Tga	p.R58*	EIF4G2_ENST00000396525.2_Nonsense_Mutation_p.R58*|EIF4G2_ENST00000525995.1_5'UTR|EIF4G2_ENST00000339995.5_Nonsense_Mutation_p.R58*|EIF4G2_ENST00000525681.1_Nonsense_Mutation_p.R58*	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2									p.R58*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TTGTCATCTCGTCTAGTGCTT	0.428																																					p.R58X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C172T	11						.						227.0	206.0	213.0					11																	10827530		2201	4294	6495	10784106	SO:0001587	stop_gained	1982	exon4			U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.172C>T	11.37:g.10827530G>A	ENSP00000433664:p.Arg58*		10784106	NM_001418		Nonsense_Mutation	SNP	ENST00000526148.1	37	CCDS31428.1	.	.	.	.	.	.	.	.	.	.	G	38	7.128652	0.98081	.	.	ENSG00000110321	ENST00000526148;ENST00000525681;ENST00000339995;ENST00000396525;ENST00000429377;ENST00000531416;ENST00000532082;ENST00000524932;ENST00000532570;ENST00000526591;ENST00000530211;ENST00000527526;ENST00000530702	.	.	.	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.3728	19.0829	0.93190	0.0:0.0:1.0:0.0	.	.	.	.	X	58;58;58;58;131;58;58;58;58;58;58;58;36	.	ENSP00000340281:R58X	R	-	1	2	EIF4G2	10784106	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.498000	0.84270	0.557000	0.71058	CGA		0.428	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	NM_001418	
CUL5	8065	broad.mit.edu	37	11	107925499	107925499	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:107925499G>C	ENST00000393094.2	+	6	1295	c.679G>C	c.(679-681)Gta>Cta	p.V227L		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	227					calcium ion transmembrane transport (GO:0070588)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cytosolic calcium ion homeostasis (GO:0051480)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|response to osmotic stress (GO:0006970)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul5-RING ubiquitin ligase complex (GO:0031466)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|receptor activity (GO:0004872)|ubiquitin protein ligase binding (GO:0031625)	p.V227L(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		ACAAAATGGTGTACAGAATTA	0.303																																					p.V227L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G679C	11						.						52.0	54.0	53.0					11																	107925499		2201	4294	6495	107430709	SO:0001583	missense	8065	exon6			X81882	CCDS31668.1	11q22.3	2011-05-24			ENSG00000166266	ENSG00000166266			2556	protein-coding gene	gene with protein product		601741				8681378, 9037604	Standard	XM_005271682		Approved	VACM-1	uc001pjv.3	Q93034	OTTHUMG00000166369	ENST00000393094.2:c.679G>C	11.37:g.107925499G>C	ENSP00000376808:p.Val227Leu		107430709	NM_003478	A8K960|O14766|Q9BZC6	Missense_Mutation	SNP	ENST00000393094.2	37	CCDS31668.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.383047|5.383047	0.95967|0.95967	.|.	.|.	ENSG00000166266|ENSG00000166266	ENST00000532782|ENST00000393094	.|T	.|0.75938	.|-0.98	6.02|6.02	6.02|6.02	0.97574|0.97574	.|Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.85669|0.85669	0.5750|0.5750	M|M	0.88775|0.88775	2.98|2.98	0.80722|0.80722	D|D	1|1	.|P	.|0.47962	.|0.903	.|P	.|0.50659	.|0.647	D|D	0.87236|0.87236	0.2263|0.2263	5|10	.|0.72032	.|D	.|0.01	-18.3621|-18.3621	20.5407|20.5407	0.99260|0.99260	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|227	.|Q93034	.|CUL5_HUMAN	S|L	123|227	.|ENSP00000376808:V227L	.|ENSP00000376808:V227L	C|V	+|+	2|1	0|0	CUL5|CUL5	107430709|107430709	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.827000|9.827000	0.99397|0.99397	2.865000|2.865000	0.98341|0.98341	0.655000|0.655000	0.94253|0.94253	TGT|GTA		0.303	CUL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389429.1		
ZC3H12C	85463	broad.mit.edu	37	11	110035819	110035819	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:110035819G>A	ENST00000278590.3	+	6	2060	c.2009G>A	c.(2008-2010)cGc>cAc	p.R670H	ZC3H12C_ENST00000528673.1_Missense_Mutation_p.R671H|ZC3H12C_ENST00000453089.2_Missense_Mutation_p.R639H	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	670							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)	p.R670H(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		CCTCACAGCCGCCTTAATCCT	0.512																																					p.R670H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2009A	11						.						175.0	188.0	184.0					11																	110035819		2050	4179	6229	109541029	SO:0001583	missense	85463	exon6				CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"""Zinc fingers, CCCH-type domain containing"""	29362	protein-coding gene	gene with protein product	"""MCP induced protein 3"""	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.2009G>A	11.37:g.110035819G>A	ENSP00000278590:p.Arg670His		109541029	NM_033390	B4DI65|B4DR47	Missense_Mutation	SNP	ENST00000278590.3	37	CCDS44727.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.146253	0.37923	.	.	ENSG00000149289	ENST00000278590;ENST00000528673;ENST00000453089	T;T;T	0.34472	1.36;1.36;1.36	6.04	6.04	0.98038	.	0.428347	0.28612	N	0.014721	T	0.35537	0.0935	L	0.55743	1.74	0.48135	D	0.999593	B;B;B	0.14438	0.004;0.01;0.004	B;B;B	0.06405	0.001;0.002;0.001	T	0.04537	-1.0944	10	0.33940	T	0.23	-20.6736	14.6935	0.69103	0.0687:0.0:0.9313:0.0	.	671;670;670	B4DR47;B4DI65;Q9C0D7	.;.;ZC12C_HUMAN	H	670;671;639	ENSP00000278590:R670H;ENSP00000431821:R671H;ENSP00000413094:R639H	ENSP00000278590:R670H	R	+	2	0	ZC3H12C	109541029	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.704000	0.54815	2.873000	0.98535	0.561000	0.74099	CGC		0.512	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390491.1	NM_033390	
ANKK1	255239	broad.mit.edu	37	11	113270301	113270301	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:113270301G>A	ENST00000303941.3	+	8	1704	c.1610G>A	c.(1609-1611)cGg>cAg	p.R537Q		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	537							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R537Q(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		GCAGTAGAGCGGGGCAAAGTG	0.607																																					p.R537Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1610A	11						.						39.0	46.0	44.0					11																	113270301		2060	4212	6272	112775511	SO:0001583	missense	255239	exon8			AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209		"""Ankyrin repeat domain containing"""	21027	protein-coding gene	gene with protein product		608774				15146457	Standard	NM_178510		Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	ENST00000303941.3:c.1610G>A	11.37:g.113270301G>A	ENSP00000306678:p.Arg537Gln		112775511	NM_178510		Missense_Mutation	SNP	ENST00000303941.3	37	CCDS44734.1	.	.	.	.	.	.	.	.	.	.	G	5.011	0.187793	0.09547	.	.	ENSG00000170209	ENST00000303941	T	0.65178	-0.14	4.88	-1.65	0.08291	Ankyrin repeat-containing domain (4);	0.463445	0.17892	N	0.158475	T	0.40398	0.1115	N	0.21373	0.66	0.09310	N	1	B	0.13145	0.007	B	0.14023	0.01	T	0.25950	-1.0117	10	0.13853	T	0.58	-7.3495	10.5791	0.45244	0.5397:0.0:0.4603:0.0	.	537	Q8NFD2	ANKK1_HUMAN	Q	537	ENSP00000306678:R537Q	ENSP00000306678:R537Q	R	+	2	0	ANKK1	112775511	0.503000	0.26115	0.142000	0.22268	0.046000	0.14306	0.940000	0.28992	-0.190000	0.10465	-0.253000	0.11424	CGG		0.607	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395830.1	NM_178510	
CADM1	23705	broad.mit.edu	37	11	115099985	115099985	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:115099985G>A	ENST00000452722.3	-	5	589	c.569C>T	c.(568-570)tCg>tTg	p.S190L	CADM1_ENST00000536727.1_Missense_Mutation_p.S190L|CADM1_ENST00000331581.6_Missense_Mutation_p.S190L|CADM1_ENST00000537058.1_Missense_Mutation_p.S190L|CADM1_ENST00000542447.2_Missense_Mutation_p.S190L|CADM1_ENST00000537140.1_5'UTR	NM_014333.3	NP_055148.3			cell adhesion molecule 1									p.S190L(2)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		TTCCACCTCCGATTTGCCTGG	0.507																																					p.S190L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C569T	11						.						95.0	76.0	82.0					11																	115099985		2201	4296	6497	114605195	SO:0001583	missense	23705	exon5			AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.569C>T	11.37:g.115099985G>A	ENSP00000395359:p.Ser190Leu		114605195	NM_014333		Missense_Mutation	SNP	ENST00000452722.3	37	CCDS8373.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.27|19.27	3.795730|3.795730	0.70452|0.70452	.|.	.|.	ENSG00000182985|ENSG00000182985	ENST00000543249|ENST00000542447;ENST00000452722;ENST00000537058;ENST00000536727;ENST00000404468;ENST00000331581;ENST00000542450;ENST00000543540;ENST00000545094	.|T;T;T;T;T;T;T;T	.|0.77358	.|-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09	6.17|6.17	6.17|6.17	0.99709|0.99709	.|CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.329614	.|0.33040	.|N	.|0.005352	T|T	0.70928|0.70928	0.3280|0.3280	L|L	0.45137|0.45137	1.4|1.4	0.46849|0.46849	D|D	0.999224|0.999224	.|P;P;P;B;B	.|0.43519	.|0.809;0.68;0.726;0.025;0.448	.|B;B;B;B;B	.|0.34779	.|0.119;0.119;0.189;0.01;0.042	T|T	0.71909|0.71909	-0.4450|-0.4450	5|10	.|0.40728	.|T	.|0.16	.|.	19.0599|19.0599	0.93085|0.93085	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|190;190;191;190;190	.|Q9BY67-2;F5H0J4;A4FVB5;Q9BY67;A0A4Z1	.|.;.;.;CADM1_HUMAN;.	W|L	174|190;190;190;190;149;190;43;43;157	.|ENSP00000439176:S190L;ENSP00000395359:S190L;ENSP00000439817:S190L;ENSP00000440322:S190L;ENSP00000329797:S190L;ENSP00000442001:S43L;ENSP00000439847:S43L;ENSP00000439696:S157L	.|ENSP00000329797:S190L	R|S	-|-	1|2	2|0	CADM1|CADM1	114605195|114605195	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.899000|0.899000	0.52679|0.52679	7.247000|7.247000	0.78257|0.78257	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CGG|TCG		0.507	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333	
TMPRSS4	56649	broad.mit.edu	37	11	117985944	117985944	+	Silent	SNP	C	C	T	rs375440943		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:117985944C>T	ENST00000437212.3	+	11	1315	c.1101C>T	c.(1099-1101)acC>acT	p.T367T	TMPRSS4_ENST00000534111.1_Silent_p.T365T|TMPRSS4_ENST00000522307.1_Silent_p.T220T|TMPRSS4_ENST00000523251.1_Silent_p.T327T|TMPRSS4_ENST00000522824.1_Silent_p.T362T|TMPRSS4_ENST00000518413.2_Intron			Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4	367	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		GGGAAGTCACCGAGAAGATGA	0.572																																					p.T365T												.	.	0			c.C1095T	11						.	C	,,,	1,4399	2.1+/-5.4	0,1,2199	95.0	72.0	80.0		1086,1095,981,1101	-3.2	0.0	11		80	0,8592		0,0,4296	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TMPRSS4	NM_001083947.1,NM_001173551.1,NM_001173552.1,NM_019894.3	,,,	0,1,6495	TT,TC,CC		0.0,0.0227,0.0077	,,,	362/433,365/436,327/398,367/438	117985944	1,12991	2200	4296	6496	117491154	SO:0001819	synonymous_variant	56649	exon11			AF179224	CCDS31684.1, CCDS44743.1, CCDS53716.1, CCDS53717.1	11q23.3	2010-04-13			ENSG00000137648	ENSG00000137648		"""Serine peptidases / Transmembrane"""	11878	protein-coding gene	gene with protein product	"""transmembrane serine protease 3"", ""membrane-type serine protease 2"", ""type II membrane serine protease"""	606565				10825129	Standard	NM_001083947		Approved	TMPRSS3, MT-SP2	uc021qrd.1	Q9NRS4	OTTHUMG00000164122	ENST00000437212.3:c.1101C>T	11.37:g.117985944C>T			117491154	NM_001173551	A8MU84|B0YJB0|B7Z8C5|E7ERX8|Q5XKQ6|Q6UX37|Q9NZA5	Silent	SNP	ENST00000437212.3	37	CCDS31684.1																																																																																				0.572	TMPRSS4-004	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377328.2	NM_019894	
KMT2A	4297	broad.mit.edu	37	11	118372554	118372554	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:118372554C>T	ENST00000389506.5	+	26	6478	c.6478C>T	c.(6478-6480)Cga>Tga	p.R2160*	KMT2A_ENST00000534358.1_Nonsense_Mutation_p.R2163*|KMT2A_ENST00000354520.4_Nonsense_Mutation_p.R2122*			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2160					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.R2160*(1)									CCCTGGCTGTCGACCGTTGCC	0.433																																					p.R2160X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C6478T	11						.						89.0	90.0	90.0					11																	118372554		2200	4296	6496	117877764	SO:0001587	stop_gained	4297	exon26			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.6478C>T	11.37:g.118372554C>T	ENSP00000374157:p.Arg2160*		117877764	NM_005933	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Nonsense_Mutation	SNP	ENST00000389506.5	37	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	C	46	12.887586	0.99704	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	.	.	.	5.53	4.62	0.57501	.	0.111433	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.8711	0.57965	0.2935:0.7065:0.0:0.0	.	.	.	.	X	2163;2160;2122;1070	.	ENSP00000346516:R2122X	R	+	1	2	MLL	117877764	0.656000	0.27385	1.000000	0.80357	0.815000	0.46073	0.774000	0.26675	1.444000	0.47605	0.591000	0.81541	CGA		0.433	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933	
KMT2A	4297	broad.mit.edu	37	11	118376070	118376070	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:118376070G>A	ENST00000389506.5	+	27	9454	c.9454G>A	c.(9454-9456)Gga>Aga	p.G3152R	KMT2A_ENST00000534358.1_Missense_Mutation_p.G3155R|KMT2A_ENST00000354520.4_Missense_Mutation_p.G3114R			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3152					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.G3152R(1)									TGCTAGCAAAGGATTGCTACC	0.483																																					p.G3152R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G9454A	11						.						190.0	173.0	179.0					11																	118376070		2200	4295	6495	117881280	SO:0001583	missense	4297	exon27			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.9454G>A	11.37:g.118376070G>A	ENSP00000374157:p.Gly3152Arg		117881280	NM_005933	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.762919	0.49574	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.83837	-1.77;-1.77;-1.73	5.55	5.55	0.83447	.	0.063522	0.64402	D	0.000005	D	0.88555	0.6468	L	0.43152	1.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.98	D	0.88282	0.2937	10	0.59425	D	0.04	.	19.7069	0.96076	0.0:0.0:1.0:0.0	.	3155;3152	E9PQG7;Q03164	.;MLL1_HUMAN	R	3155;3152;3114;2062	ENSP00000436786:G3155R;ENSP00000374157:G3152R;ENSP00000346516:G3114R	ENSP00000346516:G3114R	G	+	1	0	MLL	117881280	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.263000	0.95617	2.894000	0.99253	0.591000	0.81541	GGA		0.483	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933	
ARHGEF12	23365	broad.mit.edu	37	11	120302515	120302515	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:120302515G>A	ENST00000397843.2	+	11	985	c.819G>A	c.(817-819)ggG>ggA	p.G273G	ARHGEF12_ENST00000356641.3_Silent_p.G254G|ARHGEF12_ENST00000532993.1_Silent_p.G170G	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	273					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.G273G(1)		NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		GACCTTTAGGGGACACCCTAA	0.468			T	MLL	AML																																p.G254G			Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G762A	11						.						107.0	103.0	104.0					11																	120302515		1912	4118	6030	119807725	SO:0001819	synonymous_variant	23365	exon10			AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.819G>A	11.37:g.120302515G>A			119807725	NM_001198665	O15086|Q6P526	Silent	SNP	ENST00000397843.2	37	CCDS41727.1																																																																																				0.468	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313	
TECTA	7007	broad.mit.edu	37	11	120980006	120980006	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:120980006C>T	ENST00000392793.1	+	4	556	c.285C>T	c.(283-285)ttC>ttT	p.F95F	TECTA_ENST00000264037.2_Silent_p.F95F			O75443	TECTA_HUMAN	tectorin alpha	95					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.F95F(2)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GGAGAGCCTTCGTCGCCCCAT	0.488																																					p.F95F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C285T	11						.						95.0	86.0	89.0					11																	120980006		2203	4299	6502	120485216	SO:0001819	synonymous_variant	7007	exon3			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.285C>T	11.37:g.120980006C>T			120485216	NM_005422		Silent	SNP	ENST00000392793.1	37	CCDS8434.1																																																																																				0.488	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422	
TECTA	7007	broad.mit.edu	37	11	121000443	121000443	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:121000443G>A	ENST00000392793.1	+	10	2735	c.2464G>A	c.(2464-2466)Gtg>Atg	p.V822M	TECTA_ENST00000264037.2_Missense_Mutation_p.V822M			O75443	TECTA_HUMAN	tectorin alpha	822	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.V822M(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GTCCAAGGGCGTGGTGACTGT	0.478																																					p.V822M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2464A	11						.						167.0	161.0	163.0					11																	121000443		2203	4299	6502	120505653	SO:0001583	missense	7007	exon9			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.2464G>A	11.37:g.121000443G>A	ENSP00000376543:p.Val822Met		120505653	NM_005422		Missense_Mutation	SNP	ENST00000392793.1	37	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	G	8.992	0.978001	0.18812	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.59638	0.25;0.25	5.56	0.0727	0.14388	von Willebrand factor, type D domain (3);	0.567307	0.16870	N	0.196173	T	0.28995	0.0720	N	0.14661	0.345	0.09310	N	1	P	0.36110	0.537	B	0.31245	0.126	T	0.10497	-1.0627	10	0.34782	T	0.22	.	2.439	0.04490	0.2838:0.2993:0.3206:0.0963	.	822	O75443	TECTA_HUMAN	M	822	ENSP00000376543:V822M;ENSP00000264037:V822M	ENSP00000264037:V822M	V	+	1	0	TECTA	120505653	0.001000	0.12720	0.002000	0.10522	0.907000	0.53573	-0.259000	0.08721	-0.004000	0.14419	0.563000	0.77884	GTG		0.478	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422	
PARVA	55742	broad.mit.edu	37	11	12534906	12534906	+	Splice_Site	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:12534906A>G	ENST00000550549.1	+	9	846	c.797A>G	c.(796-798)aAg>aGg	p.K266R	PARVA_ENST00000539723.1_Splice_Site_p.K266R|PARVA_ENST00000334956.8_Splice_Site_p.K306R|PARVA_ENST00000538608.1_Missense_Mutation_p.K213R			Q9NVD7	PARVA_HUMAN	parvin, alpha	266	CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton reorganization (GO:0031532)|actin-mediated cell contraction (GO:0070252)|cell junction assembly (GO:0034329)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|heterotypic cell-cell adhesion (GO:0034113)|outflow tract septum morphogenesis (GO:0003148)|regulation of cell shape (GO:0008360)|smooth muscle cell chemotaxis (GO:0071670)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.K266R(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)	11				Epithelial(150;0.00624)		GTGGTGAAAAAGGTGGGAAAG	0.522																																					p.K306R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A917G	11						.						190.0	190.0	190.0					11																	12534906		2029	4189	6218	12491482	SO:0001630	splice_region_variant	55742	exon9			AF237771	CCDS44541.1, CCDS44541.2	11p15.3	2014-06-13	2005-05-26		ENSG00000197702	ENSG00000197702		"""Parvins"""	14652	protein-coding gene	gene with protein product		608120	"""matrix-remodelling associated 2"""	MXRA2		11171322	Standard	NM_018222		Approved	FLJ12254, FLJ10793	uc001mki.4	Q9NVD7	OTTHUMG00000165778	ENST00000550549.1:c.798+1A>G	11.37:g.12534906A>G			12491482	NM_018222	Q96C85|Q9HA48	Missense_Mutation	SNP	ENST00000550549.1	37		.	.	.	.	.	.	.	.	.	.	A	14.54	2.565245	0.45694	.	.	ENSG00000197702	ENST00000334956;ENST00000539723;ENST00000550549;ENST00000538608	D;D;D;T	0.95103	-3.61;-3.61;-3.61;1.28	5.38	5.38	0.77491	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.90724	0.7089	L	0.35249	1.045	0.58432	D	0.999999	B;B	0.31503	0.326;0.003	B;B	0.31946	0.138;0.016	D	0.89149	0.3522	10	0.35671	T	0.21	-11.9986	15.0401	0.71785	1.0:0.0:0.0:0.0	.	213;266	B7Z952;Q9NVD7	.;PARVA_HUMAN	R	306;266;266;213	ENSP00000334008:K306R;ENSP00000438967:K266R;ENSP00000447198:K266R;ENSP00000442960:K213R	ENSP00000334008:K306R	K	+	2	0	PARVA	12491482	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	5.101000	0.64566	2.036000	0.60181	0.379000	0.24179	AAG		0.522	PARVA-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_018222	Missense_Mutation
CRTAM	56253	broad.mit.edu	37	11	122735421	122735421	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:122735421A>G	ENST00000227348.4	+	7	858	c.811A>G	c.(811-813)Acc>Gcc	p.T271A	CRTAM_ENST00000533709.1_Missense_Mutation_p.T72A	NM_019604.2	NP_062550.2			cytotoxic and regulatory T cell molecule									p.T271A(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		TCCTGACTTGACCACCGGTAA	0.393																																					p.T271A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A811G	11						.						121.0	108.0	112.0					11																	122735421		2202	4299	6501	122240631	SO:0001583	missense	56253	exon7			AF001622	CCDS8437.1	11q24.1	2013-01-11			ENSG00000109943	ENSG00000109943		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	24313	protein-coding gene	gene with protein product	"""class I MHC restricted T cell associated molecule"""	612597				10811014, 16300832	Standard	NM_019604		Approved	CD355	uc001pyj.3	O95727	OTTHUMG00000166026	ENST00000227348.4:c.811A>G	11.37:g.122735421A>G	ENSP00000227348:p.Thr271Ala		122240631	NM_019604		Missense_Mutation	SNP	ENST00000227348.4	37	CCDS8437.1	.	.	.	.	.	.	.	.	.	.	A	1.772	-0.484186	0.04383	.	.	ENSG00000109943	ENST00000227348;ENST00000533709	T;T	0.57436	0.4;1.43	5.28	-5.45	0.02616	.	1.392190	0.04056	N	0.305598	T	0.19127	0.0459	N	0.01352	-0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.08046	-1.0741	10	0.26408	T	0.33	.	3.1261	0.06407	0.3243:0.1318:0.4155:0.1283	.	72;271	O95727-2;O95727	.;CRTAM_HUMAN	A	271;72	ENSP00000227348:T271A;ENSP00000433728:T72A	ENSP00000227348:T271A	T	+	1	0	CRTAM	122240631	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.972000	0.03802	-1.486000	0.01851	-1.212000	0.01626	ACC		0.393	CRTAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387507.1	NM_019604	
KIRREL3	84623	broad.mit.edu	37	11	126333112	126333112	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:126333112G>A	ENST00000525144.2	-	6	931	c.682C>T	c.(682-684)Cgt>Tgt	p.R228C	KIRREL3_ENST00000525704.2_Missense_Mutation_p.R228C|KIRREL3_ENST00000529097.2_Missense_Mutation_p.R228C	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	228	Ig-like C2-type 2.				hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R228C(2)|p.R187C(2)		central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		TTGGTGGCACGACACACGATG	0.622																																					p.R228C												.	.	4	Substitution - Missense(4)	lung(3)|large_intestine(1)	c.C682T	11						.						94.0	100.0	98.0					11																	126333112		2169	4259	6428	125838322	SO:0001583	missense	84623	exon6			AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.682C>T	11.37:g.126333112G>A	ENSP00000435466:p.Arg228Cys		125838322	NM_032531	Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Missense_Mutation	SNP	ENST00000525144.2	37	CCDS53723.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.700132	0.48307	.	.	ENSG00000149571	ENST00000525144;ENST00000529097;ENST00000525704	T;T;T	0.76709	-1.04;-1.04;-1.04	5.1	4.13	0.48395	Immunoglobulin subtype (1);CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.070083	0.56097	D	0.000036	D	0.89403	0.6705	M	0.91459	3.21	0.80722	D	1	D;D;D	0.89917	0.998;0.999;1.0	P;P;D	0.72338	0.809;0.88;0.977	D	0.91501	0.5219	10	0.87932	D	0	.	13.4361	0.61084	0.0:0.0:0.8427:0.1573	.	228;228;228	Q8IZU9-2;E9PRX9;Q8IZU9	.;.;KIRR3_HUMAN	C	228	ENSP00000435466:R228C;ENSP00000434081:R228C;ENSP00000435094:R228C	ENSP00000435466:R228C	R	-	1	0	KIRREL3	125838322	1.000000	0.71417	0.996000	0.52242	0.205000	0.24178	4.758000	0.62220	2.380000	0.81148	0.448000	0.29417	CGT		0.622	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2	NM_032531	
MUC2	4583	broad.mit.edu	37	11	1087473	1087473	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:1087473delG	ENST00000441003.2	+	24	3251	c.3224delG	c.(3223-3225)tgtfs	p.C1075fs	MUC2_ENST00000359061.5_Frame_Shift_Del_p.C1075fs	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1075					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)		p.C1075fs*104(2)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TACGAGGCCTGTGTGCACGAC	0.657																																					p.C1075fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.3224delG	11						.						74.0	87.0	83.0					11																	1087473		2156	4246	6402	1077473	SO:0001589	frameshift_variant	4583	exon24			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.3224delG	11.37:g.1087473delG	ENSP00000415183:p.Cys1075fs		1077473	NM_002457	Q14878	Frame_Shift_Del	DEL	ENST00000441003.2	37																																																																																					0.657	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457	
OR52B4	143496	broad.mit.edu	37	11	4389258	4389258	+	Missense_Mutation	SNP	G	G	A	rs367923959		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:4389258G>A	ENST00000408920.2	-	1	358	c.268C>T	c.(268-270)Cgt>Tgt	p.R90C		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	90					cognition (GO:0050890)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R90C(1)		NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCCCCAGCACGGAACCAGAAG	0.532																																					p.R90C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C268T	11						.	G	CYS/ARG	1,4297		0,1,2148	92.0	98.0	96.0		268	-4.0	0.0	11		96	0,8512		0,0,4256	no	missense	OR52B4	NM_001005161.3	180	0,1,6404	AA,AG,GG		0.0,0.0233,0.0078	probably-damaging	90/315	4389258	1,12809	2149	4256	6405	4345834	SO:0001583	missense	143496	exon1			AB065792	CCDS41609.1	11p15.4	2012-08-09			ENSG00000221996	ENSG00000221996		"""GPCR / Class A : Olfactory receptors"""	15209	protein-coding gene	gene with protein product							Standard	NM_001005161		Approved		uc010qye.2	Q8NGK2	OTTHUMG00000154222	ENST00000408920.2:c.268C>T	11.37:g.4389258G>A	ENSP00000386160:p.Arg90Cys		4345834	NM_001005161	A6NP68|Q6IFK6	Missense_Mutation	SNP	ENST00000408920.2	37	CCDS41609.1	.	.	.	.	.	.	.	.	.	.	G	8.571	0.880050	0.17467	2.33E-4	0.0	ENSG00000221996	ENST00000408920	T	0.03124	4.04	5.28	-3.98	0.04082	GPCR, rhodopsin-like superfamily (1);	1.193830	0.06007	N	0.648937	T	0.04227	0.0117	L	0.35644	1.08	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.45745	-0.9240	10	0.54805	T	0.06	.	12.2861	0.54793	0.0651:0.0:0.2149:0.7199	.	90	Q8NGK2	O52B4_HUMAN	C	90	ENSP00000386160:R90C	ENSP00000386160:R90C	R	-	1	0	OR52B4	4345834	0.000000	0.05858	0.000000	0.03702	0.354000	0.29330	-1.972000	0.01502	-0.484000	0.06763	0.650000	0.86243	CGT		0.532	OR52B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334449.3	NM_001005161	
TRIM68	55128	broad.mit.edu	37	11	4621713	4621713	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:4621713C>T	ENST00000300747.5	-	7	1540	c.1251G>A	c.(1249-1251)ccG>ccA	p.P417P		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	417	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein autoubiquitination (GO:0051865)|regulation of androgen receptor signaling pathway (GO:0060765)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|histone acetyltransferase binding (GO:0035035)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P417P(1)		breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		GAGGAGGGACCGGCAAGGACA	0.532																																					p.P417P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1251A	11						.						109.0	90.0	96.0					11																	4621713		2201	4298	6499	4578289	SO:0001819	synonymous_variant	55128	exon7			AF360739	CCDS31356.1	11p15.4	2013-01-09	2011-01-25	2004-11-17		ENSG00000167333		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21161	protein-coding gene	gene with protein product		613184	"""ring finger protein 137"", ""tripartite motif-containing 68"""	RNF137		11597395	Standard	NM_018073		Approved	SS-56, FLJ10369	uc001lzf.2	Q6AZZ1		ENST00000300747.5:c.1251G>A	11.37:g.4621713C>T			4578289	NM_018073	A6NI19|A8K551|B3KPM5|B4DVK4|Q8WZ70|Q96LE5|Q96PF7|Q9H9C2|Q9NW18	Silent	SNP	ENST00000300747.5	37	CCDS31356.1																																																																																				0.532	TRIM68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385948.1	NM_018073	
OR51G2	81282	broad.mit.edu	37	11	4936206	4936206	+	Missense_Mutation	SNP	C	C	T	rs185474285		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:4936206C>T	ENST00000322013.3	-	1	716	c.688G>A	c.(688-690)Gtg>Atg	p.V230M	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V230M(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGGACAGCACGGTGCGCAGG	0.522													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22581	0.0		0.0	False		,,,				2504	0.0				p.V230M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G688A	11						.						143.0	112.0	123.0					11																	4936206		2201	4298	6499	4892782	SO:0001583	missense	81282	exon1			AB065794	CCDS31365.1	11p15.4	2012-08-09			ENSG00000176893	ENSG00000176893		"""GPCR / Class A : Olfactory receptors"""	15198	protein-coding gene	gene with protein product							Standard	NM_001005238		Approved		uc001lzr.1	Q8NGK0	OTTHUMG00000066501	ENST00000322013.3:c.688G>A	11.37:g.4936206C>T	ENSP00000322593:p.Val230Met		4892782	NM_001005238	Q6IFH7	Missense_Mutation	SNP	ENST00000322013.3	37	CCDS31365.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	10.37	1.330623	0.24167	.	.	ENSG00000176893	ENST00000322013	T	0.00321	8.11	5.58	4.67	0.58626	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45606	D	0.000349	T	0.01189	0.0039	H	0.98577	4.27	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.24584	-1.0156	10	0.87932	D	0	.	9.7645	0.40552	0.0:0.8432:0.0:0.1568	.	230	Q8NGK0	O51G2_HUMAN	M	230	ENSP00000322593:V230M	ENSP00000322593:V230M	V	-	1	0	OR51G2	4892782	0.907000	0.30839	0.233000	0.24025	0.053000	0.15095	1.830000	0.39131	1.596000	0.50062	0.655000	0.94253	GTG		0.522	OR51G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142174.1	NM_001005238	
TRIM34	53840	broad.mit.edu	37	11	5653722	5653722	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:5653722G>T	ENST00000514226.1	+	2	498	c.161G>T	c.(160-162)aGc>aTc	p.S54I	TRIM6-TRIM34_ENST00000457787.2_Missense_Mutation_p.S54I|HBG2_ENST00000380259.2_Intron|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.S408I|TRIM34_ENST00000429814.2_Missense_Mutation_p.S54I	NM_001003827.1	NP_001003827.1	Q9BYJ4	TRI34_HUMAN	tripartite motif containing 34	54					positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.S408I(1)|p.S54I(1)		NS(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	17		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;5.72e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAGGAAAAAGCAGCTGTCCT	0.512																																					p.S54I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G161T	11						.						151.0	136.0	141.0					11																	5653722		2201	4297	6498	5610298	SO:0001583	missense	445372	exon1			AB039902	CCDS31391.1	11p15	2013-01-09	2011-01-25	2001-11-23		ENSG00000258659		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10063	protein-coding gene	gene with protein product		605684	"""tripartite motif-containing 34"""	RNF21			Standard	NM_130390		Approved			Q9BYJ4	OTTHUMG00000066892	ENST00000514226.1:c.161G>T	11.37:g.5653722G>T	ENSP00000422947:p.Ser54Ile		5610298	NM_130390	D3DQS7|Q9C016|Q9HCR0|Q9HCR1|Q9HCR2	Missense_Mutation	SNP	ENST00000514226.1	37	CCDS31391.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.671381	0.47781	.	.	ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258588	ENST00000337072;ENST00000514226;ENST00000429814;ENST00000457787;ENST00000354852	T;T;T;T	0.07216	3.21;3.21;3.21;3.21	3.19	0.277	0.15668	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.372474	0.19777	N	0.106311	T	0.07007	0.0178	N	0.16862	0.45	0.09310	N	1	B;B;P	0.48998	0.123;0.391;0.918	B;P;P	0.52159	0.209;0.691;0.601	T	0.35226	-0.9797	10	0.22706	T	0.39	.	6.0894	0.19985	0.4777:0.0:0.5223:0.0	.	54;54;408	Q9BYJ4-2;Q9BYJ4;B2RNG4	.;TRI34_HUMAN;.	I	408;54;54;54;408	ENSP00000422947:S54I;ENSP00000402595:S54I;ENSP00000395982:S54I;ENSP00000346916:S408I	ENSP00000402595:S54I	S	+	2	0	TRIM34;TRIM6-TRIM34	5610298	0.000000	0.05858	0.007000	0.13788	0.218000	0.24690	-0.153000	0.10144	0.067000	0.16545	0.505000	0.49811	AGC		0.512	TRIM34-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143357.2	NM_001003827	
TRIM22	10346	broad.mit.edu	37	11	5718565	5718565	+	Missense_Mutation	SNP	G	G	A	rs553638122		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:5718565G>A	ENST00000379965.3	+	3	788	c.511G>A	c.(511-513)Gcc>Acc	p.A171T	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	171					defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.A171T(1)		kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		AGAGAGAACCGCCTGGAAGGC	0.512																																					p.A171T	GBM(104;491 2336 5222)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G511A	11						.						41.0	47.0	45.0					11																	5718565		1913	4158	6071	5675141	SO:0001583	missense	10346	exon3			X82200	CCDS41612.1	11p15	2013-01-09	2011-01-25		ENSG00000132274	ENSG00000132274		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16379	protein-coding gene	gene with protein product		606559	"""tripartite motif-containing 22"""			11331580, 11096452	Standard	NM_006074		Approved	STAF50, GPSTAF50, RNF94	uc001mbr.3	Q8IYM9	OTTHUMG00000066904	ENST00000379965.3:c.511G>A	11.37:g.5718565G>A	ENSP00000369299:p.Ala171Thr		5675141	NM_001199573	Q05CQ0|Q15521	Missense_Mutation	SNP	ENST00000379965.3	37	CCDS41612.1	.	.	.	.	.	.	.	.	.	.	G	9.879	1.200940	0.22121	.	.	ENSG00000132274	ENST00000379965;ENST00000425490;ENST00000414641	T;T;T	0.71934	3.54;-0.45;-0.61	4.07	-8.14	0.01069	.	.	.	.	.	T	0.36635	0.0974	N	0.02721	-0.515	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.19321	-1.0309	9	0.38643	T	0.18	.	4.9197	0.13864	0.3773:0.0:0.2739:0.3488	.	171;171	Q8IYM9-2;Q8IYM9	.;TRI22_HUMAN	T	171	ENSP00000369299:A171T;ENSP00000400417:A171T;ENSP00000396849:A171T	ENSP00000369299:A171T	A	+	1	0	TRIM22	5675141	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-2.544000	0.00933	-1.108000	0.03000	-2.507000	0.00189	GCC		0.512	TRIM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143387.2	NM_006074	
OR52W1	120787	broad.mit.edu	37	11	6220850	6220850	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:6220850C>T	ENST00000311352.2	+	1	475	c.397C>T	c.(397-399)Cgt>Tgt	p.R133C	RP11-290F24.6_ENST00000600308.1_lincRNA	NM_001005178.1	NP_001005178.1	Q6IF63	O52W1_HUMAN	olfactory receptor, family 52, subfamily W, member 1	133						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R133C(2)		endometrium(2)|kidney(2)|large_intestine(1)|lung(6)	11		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCAATAGGGCGTCCACTGCA	0.547																																					p.R133C												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.C397T	11						.						150.0	103.0	119.0					11																	6220850		2201	4296	6497	6177426	SO:0001583	missense	120787	exon1			AB065511	CCDS31407.1	11p15.4	2012-08-09		2004-03-10	ENSG00000175485	ENSG00000175485		"""GPCR / Class A : Olfactory receptors"""	15239	protein-coding gene	gene with protein product				OR52W1P			Standard	NM_001005178		Approved		uc010qzz.2	Q6IF63	OTTHUMG00000165378	ENST00000311352.2:c.397C>T	11.37:g.6220850C>T	ENSP00000309673:p.Arg133Cys		6177426	NM_001005178	Q8NH78	Missense_Mutation	SNP	ENST00000311352.2	37	CCDS31407.1	.	.	.	.	.	.	.	.	.	.	C	9.159	1.018275	0.19355	.	.	ENSG00000175485	ENST00000311352	T	0.00554	6.64	5.95	0.147	0.14838	GPCR, rhodopsin-like superfamily (1);	0.848919	0.09840	N	0.749018	T	0.00580	0.0019	L	0.46947	1.48	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.38436	-0.9661	10	0.46703	T	0.11	.	8.2524	0.31735	0.3367:0.5189:0.0819:0.0626	.	133	Q6IF63	O52W1_HUMAN	C	133	ENSP00000309673:R133C	ENSP00000309673:R133C	R	+	1	0	OR52W1	6177426	0.000000	0.05858	0.911000	0.35937	0.809000	0.45718	-1.122000	0.03267	0.113000	0.18004	-0.940000	0.02684	CGT		0.547	OR52W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383758.1	NM_001005178	
ZNF215	7762	broad.mit.edu	37	11	6977522	6977522	+	Silent	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:6977522T>C	ENST00000278319.5	+	7	1902	c.1314T>C	c.(1312-1314)aaT>aaC	p.N438N	ZNF215_ENST00000414517.2_Silent_p.N438N|ZNF215_ENST00000529903.1_Intron	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	438					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N438N(1)		NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		GCACAAGCAATAAATGTGGAA	0.378																																					p.N438N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1314C	11						.						80.0	81.0	80.0					11																	6977522		2201	4296	6497	6934098	SO:0001819	synonymous_variant	7762	exon7			AF056618	CCDS7775.1	11p15.4	2013-01-09			ENSG00000149054	ENSG00000149054		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13007	protein-coding gene	gene with protein product		605016					Standard	XM_005253130		Approved	ZKSCAN11, ZSCAN43	uc001mey.3	Q9UL58	OTTHUMG00000165507	ENST00000278319.5:c.1314T>C	11.37:g.6977522T>C			6934098	NM_013250	Q96C84	Silent	SNP	ENST00000278319.5	37	CCDS7775.1																																																																																				0.378	ZNF215-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384550.1		
ZNF214	7761	broad.mit.edu	37	11	7021702	7021702	+	Silent	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:7021702A>G	ENST00000278314.4	-	3	1527	c.1212T>C	c.(1210-1212)caT>caC	p.H404H	ZNF214_ENST00000536068.1_Silent_p.H404H|ZNF214_ENST00000531083.1_5'Flank	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	404					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.H404H(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		GTACTAACTGATGAATTCGAA	0.413																																					p.H404H	Ovarian(22;251 657 736 21522 46864)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1212C	11						.						86.0	90.0	89.0					11																	7021702		2201	4296	6497	6978278	SO:0001819	synonymous_variant	7761	exon3			AF056617	CCDS31418.1	11p15.4	2013-01-08				ENSG00000149050		"""Zinc fingers, C2H2-type"", ""-"""	13006	protein-coding gene	gene with protein product		605015					Standard	NM_013249		Approved		uc001mfa.2	Q9UL59		ENST00000278314.4:c.1212T>C	11.37:g.7021702A>G			6978278	NM_013249	B2R8Q1	Silent	SNP	ENST00000278314.4	37	CCDS31418.1																																																																																				0.413	ZNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385349.1		
SYT9	143425	broad.mit.edu	37	11	7324486	7324486	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:7324486C>A	ENST00000318881.6	+	2	599	c.362C>A	c.(361-363)cCc>cAc	p.P121H	SYT9_ENST00000396716.2_Missense_Mutation_p.P89H	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	121					positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.P121H(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		CCTCCCACGCCCTGCCCTGAC	0.582																																					p.P121H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C362A	11						.						115.0	96.0	102.0					11																	7324486		2201	4296	6497	7281062	SO:0001583	missense	143425	exon2			AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"""Synaptotagmins"""	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.362C>A	11.37:g.7324486C>A	ENSP00000324419:p.Pro121His		7281062	NM_175733		Missense_Mutation	SNP	ENST00000318881.6	37	CCDS7778.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.254199	0.59212	.	.	ENSG00000170743	ENST00000396716;ENST00000318881	T;T	0.55234	0.53;0.58	5.73	5.73	0.89815	.	0.168531	0.43110	D	0.000605	T	0.46619	0.1402	L	0.40543	1.245	0.39437	D	0.96717	P	0.37101	0.582	B	0.39738	0.308	T	0.52866	-0.8518	10	0.72032	D	0.01	.	10.7675	0.46303	0.0:0.9142:0.0:0.0858	.	121	Q86SS6	SYT9_HUMAN	H	89;121	ENSP00000379944:P89H;ENSP00000324419:P121H	ENSP00000324419:P121H	P	+	2	0	SYT9	7281062	1.000000	0.71417	0.998000	0.56505	0.864000	0.49448	4.480000	0.60243	2.698000	0.92095	0.655000	0.94253	CCC		0.582	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1	NM_175733	
PPFIBP2	8495	broad.mit.edu	37	11	7586982	7586982	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:7586982G>T	ENST00000299492.4	+	3	651	c.263G>T	c.(262-264)tGg>tTg	p.W88L		NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	88					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)	p.W88L(1)		breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		ATAAAGGAATGGTTTGAAGAG	0.572																																					p.W88L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G263T	11						.						66.0	69.0	68.0					11																	7586982		2201	4296	6497	7543558	SO:0001583	missense	8495	exon3			AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"""Sterile alpha motif (SAM) domain containing"""	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.263G>T	11.37:g.7586982G>T	ENSP00000299492:p.Trp88Leu		7543558	NM_003621	B7Z433|E9PK77|O75337|Q8WW26	Missense_Mutation	SNP	ENST00000299492.4	37	CCDS31419.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.0|23.0	4.361729|4.361729	0.82353|0.82353	.|.	.|.	ENSG00000166387|ENSG00000166387	ENST00000524548|ENST00000526873;ENST00000528947;ENST00000299492;ENST00000527790	.|T;T	.|0.13778	.|2.56;2.56	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	.|0.000000	.|0.56097	.|D	.|0.000031	T|T	0.19485|0.19485	0.0468|0.0468	M|M	0.71206|0.71206	2.165|2.165	0.80722|0.80722	D|D	1|1	.|B	.|0.31968	.|0.349	.|B	.|0.36418	.|0.224	T|T	0.03545|0.03545	-1.1026|-1.1026	5|10	.|0.10377	.|T	.|0.69	-2.5092|-2.5092	16.6921|16.6921	0.85324|0.85324	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|88	.|Q8ND30	.|LIPB2_HUMAN	C|L	43|88	.|ENSP00000299492:W88L;ENSP00000434981:W88L	.|ENSP00000299492:W88L	G|W	+|+	1|2	0|0	PPFIBP2|PPFIBP2	7543558|7543558	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	5.252000|5.252000	0.65445|0.65445	2.796000|2.796000	0.96246|0.96246	0.650000|0.650000	0.86243|0.86243	GGT|TGG		0.572	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385345.2	NM_003621	
OR10A6	390093	broad.mit.edu	37	11	7949332	7949332	+	Missense_Mutation	SNP	C	C	T	rs143603778		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:7949332C>T	ENST00000309838.2	-	1	877	c.878G>A	c.(877-879)cGa>cAa	p.R293Q		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	293						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R293Q(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTCACTATTTCGCAAACTGTA	0.418																																					p.R293Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|prostate(1)	c.G878A	11						.	C	GLN/ARG	1,4401	2.1+/-5.4	0,1,2200	161.0	146.0	151.0		878	3.5	0.0	11	dbSNP_134	151	1,8591	1.2+/-3.3	0,1,4295	no	missense	OR10A6	NM_001004461.1	43	0,2,6495	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	293/315	7949332	2,12992	2201	4296	6497	7905908	SO:0001583	missense	390093	exon1			AB065515	CCDS31420.1	11p15.4	2012-08-09			ENSG00000175393	ENSG00000175393		"""GPCR / Class A : Olfactory receptors"""	15132	protein-coding gene	gene with protein product							Standard	NM_001004461		Approved		uc010rbh.2	Q8NH74	OTTHUMG00000165671	ENST00000309838.2:c.878G>A	11.37:g.7949332C>T	ENSP00000312470:p.Arg293Gln		7905908	NM_001004461	Q6IF59	Missense_Mutation	SNP	ENST00000309838.2	37	CCDS31420.1	.	.	.	.	.	.	.	.	.	.	C	9.410	1.080393	0.20309	2.27E-4	1.16E-4	ENSG00000175393	ENST00000309838	T	0.41065	1.01	4.43	3.5	0.40072	.	0.184865	0.25827	N	0.028044	T	0.60183	0.2249	M	0.72894	2.215	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.52675	-0.8544	10	0.87932	D	0	.	9.7813	0.40649	0.0:0.8167:0.0:0.1833	.	293	Q8NH74	O10A6_HUMAN	Q	293	ENSP00000312470:R293Q	ENSP00000312470:R293Q	R	-	2	0	OR10A6	7905908	0.018000	0.18449	0.025000	0.17156	0.001000	0.01503	1.973000	0.40550	0.613000	0.30089	-0.797000	0.03246	CGA		0.418	OR10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385703.1	NM_001004461	
NLRP10	338322	broad.mit.edu	37	11	7982200	7982200	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:7982200C>A	ENST00000328600.2	-	2	1120	c.959G>T	c.(958-960)aGg>aTg	p.R320M		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	320	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)	p.R320M(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GTACCTCGCCCTCTCCTCCTC	0.512																																					p.R320M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G959T	11						.						112.0	109.0	110.0					11																	7982200		2201	4296	6497	7938776	SO:0001583	missense	338322	exon2			AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"""Nucleotide-binding domain and leucine rich repeat containing"""	21464	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"""	609662	"""NACHT, leucine rich repeat and PYD containing 10"""	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.959G>T	11.37:g.7982200C>A	ENSP00000327763:p.Arg320Met		7938776	NM_176821	Q2M3C4|Q6JGT0	Missense_Mutation	SNP	ENST00000328600.2	37	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.697061	0.30142	.	.	ENSG00000182261	ENST00000328600	D	0.81739	-1.53	5.21	2.28	0.28536	NACHT nucleoside triphosphatase (1);	0.000000	0.45126	D	0.000385	D	0.86343	0.5910	M	0.72894	2.215	0.28030	N	0.934177	D	0.89917	1.0	D	0.91635	0.999	T	0.78201	-0.2296	10	0.87932	D	0	.	8.1074	0.30894	0.0:0.7275:0.0:0.2725	.	320	Q86W26	NAL10_HUMAN	M	320	ENSP00000327763:R320M	ENSP00000327763:R320M	R	-	2	0	NLRP10	7938776	0.020000	0.18652	0.259000	0.24435	0.005000	0.04900	0.511000	0.22739	0.726000	0.32339	0.650000	0.86243	AGG		0.512	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821	
PIK3C2A	5286	broad.mit.edu	37	11	17124220	17124220	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:17124220G>A	ENST00000265970.7	-	23	3839	c.3840C>T	c.(3838-3840)ggC>ggT	p.G1280G	PIK3C2A_ENST00000540361.1_Silent_p.G900G|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1280	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)	p.G1280G(1)		central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						TTTTGAAGCTGCCAAACATCT	0.408																																					p.G1280G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3840T	11						.						113.0	103.0	106.0					11																	17124220		2200	4293	6493	17080796	SO:0001819	synonymous_variant	5286	exon23			Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.3840C>T	11.37:g.17124220G>A			17080796	NM_002645	B0LPH2|B4E2G4|Q14CQ9	Silent	SNP	ENST00000265970.7	37	CCDS7824.1																																																																																				0.408	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645	
MRGPRX4	117196	broad.mit.edu	37	11	18195087	18195087	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:18195087G>A	ENST00000314254.3	+	1	704	c.284G>A	c.(283-285)cGc>cAc	p.R95H	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R95H(2)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CATCTCATCCGCAAAATCCTC	0.517																																					p.R95H												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G284A	11						.						127.0	99.0	109.0					11																	18195087		2199	4293	6492	18151663	SO:0001583	missense	117196	exon1			AY042216	CCDS7831.1	11p15.1	2013-10-10			ENSG00000179817	ENSG00000179817		"""GPCR / Class A : Orphans"""	17617	protein-coding gene	gene with protein product		607230				11551509	Standard	NM_054032		Approved	MRGX4	uc001mnv.1	Q96LA9	OTTHUMG00000166442	ENST00000314254.3:c.284G>A	11.37:g.18195087G>A	ENSP00000314042:p.Arg95His		18151663	NM_054032	Q3KNU3|Q3KNU4|Q502W0|Q8TDD6|Q8TDD7	Missense_Mutation	SNP	ENST00000314254.3	37	CCDS7831.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.636526	0.00114	.	.	ENSG00000179817	ENST00000314254	T	0.37058	1.22	2.95	-5.9	0.02275	GPCR, rhodopsin-like superfamily (1);	2.911160	0.01091	N	0.005169	T	0.18257	0.0438	N	0.16166	0.38	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.15093	-1.0449	10	0.15066	T	0.55	.	3.1085	0.06350	0.1116:0.4693:0.2323:0.1869	.	95	Q96LA9	MRGX4_HUMAN	H	95	ENSP00000314042:R95H	ENSP00000314042:R95H	R	+	2	0	MRGPRX4	18151663	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.068000	0.00154	-5.958000	0.00007	-3.078000	0.00066	CGC		0.517	MRGPRX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389788.1	NM_054032	
TMEM86A	144110	broad.mit.edu	37	11	18723388	18723388	+	Missense_Mutation	SNP	C	C	A	rs146522347		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:18723388C>A	ENST00000280734.2	+	3	651	c.555C>A	c.(553-555)ttC>ttA	p.F185L		NM_153347.1	NP_699178.1	Q8N2M4	TM86A_HUMAN	transmembrane protein 86A	185						integral component of membrane (GO:0016021)		p.F185L(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						GTGCACTCTTCTTTATCATCT	0.587																																					p.F185L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C555A	11						.						110.0	93.0	99.0					11																	18723388		2199	4293	6492	18679964	SO:0001583	missense	144110	exon3			BC035692	CCDS7844.1	11p15.1	2005-10-28				ENSG00000151117			26890	protein-coding gene	gene with protein product							Standard	NM_153347		Approved	FLJ90119	uc001moz.1	Q8N2M4		ENST00000280734.2:c.555C>A	11.37:g.18723388C>A	ENSP00000280734:p.Phe185Leu		18679964	NM_153347	Q96AJ0	Missense_Mutation	SNP	ENST00000280734.2	37	CCDS7844.1	.	.	.	.	.	.	.	.	.	.	C	0.024	-1.389847	0.01185	.	.	ENSG00000151117	ENST00000535380;ENST00000280734	T	0.14640	2.49	5.43	-1.38	0.09027	.	0.196194	0.45606	N	0.000347	T	0.02047	0.0064	N	0.00368	-1.59	0.28054	N	0.933255	B	0.02656	0.0	B	0.01281	0.0	T	0.38436	-0.9661	9	.	.	.	-10.3031	2.6443	0.04980	0.1019:0.3268:0.3259:0.2454	.	185	Q8N2M4	TM86A_HUMAN	L	185	ENSP00000280734:F185L	.	F	+	3	2	TMEM86A	18679964	0.997000	0.39634	0.831000	0.32960	0.140000	0.21249	0.521000	0.22893	-0.404000	0.07610	-0.150000	0.13652	TTC		0.587	TMEM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387812.1	NM_153347	
DNAJC24	120526	broad.mit.edu	37	11	31436427	31436427	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:31436427G>A	ENST00000465995.1	+	3	287	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K	DNAJC24_ENST00000536040.1_Missense_Mutation_p.E60K	NM_181706.4	NP_859057.4	Q6P3W2	DJC24_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 24	60	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				chaperone-mediated protein folding (GO:0061077)|oxidation-reduction process (GO:0055114)|peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)|positive regulation of ATPase activity (GO:0032781)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATPase activator activity (GO:0001671)|ferrous iron binding (GO:0008198)|zinc ion binding (GO:0008270)	p.E61K(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|skin(1)|upper_aerodigestive_tract(2)	11						GAAGTTCATCGAAATTGATCA	0.448																																					p.E61K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G181A	11						.						91.0	92.0	91.0					11																	31436427		1957	4166	6123	31393003	SO:0001583	missense	120526	exon3			AL833128	CCDS7873.2	11p14.1	2011-09-02	2008-07-03	2008-07-03	ENSG00000170946	ENSG00000170946		"""Heat shock proteins / DNAJ (HSP40)"""	26979	protein-coding gene	gene with protein product		611072	"""zinc finger, CSL-type containing 3"", ""DPH4 homolog (JJJ3, S. cerevisiae)"", ""DPH4, JJJ3 homolog (S. cerevisiae)"""	ZCSL3, DPH4		15485916	Standard	NM_181706		Approved	JJJ3	uc001msx.3	Q6P3W2	OTTHUMG00000133712	ENST00000465995.1:c.181G>A	11.37:g.31436427G>A	ENSP00000417548:p.Glu61Lys		31393003	NM_181706	A8K0V0|B1ALC1|I6L9B4	Missense_Mutation	SNP	ENST00000465995.1	37	CCDS7873.2	.	.	.	.	.	.	.	.	.	.	G	14.58	2.577029	0.45902	.	.	ENSG00000170946	ENST00000465995;ENST00000536040	T;T	0.32272	1.46;1.46	6.17	6.17	0.99709	Heat shock protein DnaJ, N-terminal (5);	0.043678	0.85682	D	0.000000	T	0.42810	0.1219	L	0.38649	1.16	0.80722	D	1	D;P	0.63880	0.993;0.707	P;B	0.54431	0.752;0.069	T	0.10245	-1.0638	10	0.62326	D	0.03	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	60;61	Q6P3W2;D3DQZ6	DJC24_HUMAN;.	K	61;60	ENSP00000417548:E61K;ENSP00000444967:E60K	ENSP00000417548:E61K	E	+	1	0	DNAJC24	31393003	1.000000	0.71417	0.837000	0.33122	0.004000	0.04260	7.842000	0.86851	2.941000	0.99782	0.655000	0.94253	GAA		0.448	DNAJC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258011.3	NM_181706	
PAX6	5080	broad.mit.edu	37	11	31815029	31815029	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:31815029G>A	ENST00000379132.3	-	10	1269	c.989C>T	c.(988-990)cCg>cTg	p.P330L	PAX6_ENST00000241001.8_Missense_Mutation_p.P330L|PAX6_ENST00000379107.2_Missense_Mutation_p.P344L|PAX6_ENST00000379111.2_Missense_Mutation_p.P330L|PAX6_ENST00000379115.4_Missense_Mutation_p.P344L|PAX6_ENST00000379129.2_Missense_Mutation_p.P344L|PAX6_ENST00000419022.1_Missense_Mutation_p.P344L|PAX6_ENST00000379123.5_Missense_Mutation_p.P330L			P26367	PAX6_HUMAN	paired box 6	330	Pro/Ser/Thr-rich.				astrocyte differentiation (GO:0048708)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|cerebral cortex regionalization (GO:0021796)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|cornea development in camera-type eye (GO:0061303)|dorsal/ventral axis specification (GO:0009950)|embryonic camera-type eye morphogenesis (GO:0048596)|eye development (GO:0001654)|eye photoreceptor cell development (GO:0042462)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain-midbrain boundary formation (GO:0021905)|glucose homeostasis (GO:0042593)|hindbrain development (GO:0030902)|iris morphogenesis (GO:0061072)|keratinocyte differentiation (GO:0030216)|lacrimal gland development (GO:0032808)|lens development in camera-type eye (GO:0002088)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|neuron migration (GO:0001764)|oligodendrocyte cell fate specification (GO:0021778)|organ morphogenesis (GO:0009887)|pancreatic A cell development (GO:0003322)|pituitary gland development (GO:0021983)|positive regulation of cell fate specification (GO:0042660)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of gene expression (GO:0010628)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to organelle (GO:0033365)|protein ubiquitination (GO:0016567)|regulation of cell migration (GO:0030334)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment (GO:0021918)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|salivary gland morphogenesis (GO:0007435)|signal transduction involved in regulation of gene expression (GO:0023019)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell differentiation (GO:0003309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)	p.P344L(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					GGGCATAGGCGGCAGAGCGCT	0.557									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation																												p.P330L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C989T	11						.						143.0	148.0	147.0					11																	31815029		2202	4299	6501	31771605	SO:0001583	missense	5080	exon11	Familial Cancer Database	WAGR syndrome	AY707088	CCDS31451.1, CCDS31452.1	11p13	2014-09-17	2007-07-12		ENSG00000007372	ENSG00000007372		"""Paired boxes"", ""Homeoboxes / PRD class"""	8620	protein-coding gene	gene with protein product	"""aniridia, keratitis"""	607108	"""paired box gene 6 (aniridia, keratitis)"""	AN2		1302030	Standard	NM_001127612		Approved	D11S812E, AN, WAGR	uc021qfm.1	P26367	OTTHUMG00000041447	ENST00000379132.3:c.989C>T	11.37:g.31815029G>A	ENSP00000368427:p.Pro330Leu		31771605	NM_001127612	Q6N006|Q99413	Missense_Mutation	SNP	ENST00000379132.3	37	CCDS31451.1	.	.	.	.	.	.	.	.	.	.	G	36	5.819012	0.96982	.	.	ENSG00000007372	ENST00000419022;ENST00000379132;ENST00000379129;ENST00000531633;ENST00000379107;ENST00000464174;ENST00000241001;ENST00000379115;ENST00000379111;ENST00000379123;ENST00000494377;ENST00000470027;ENST00000379109;ENST00000533333	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.94537	-3.45;-3.44;-3.45;-3.08;-3.45;-3.12;-3.44;-3.45;-3.44;-3.44;-2.95;-2.95;-3.44;-3.18	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.95974	0.8689	L	0.58302	1.8	0.80722	D	1	D;D	0.69078	0.997;0.997	P;P	0.57009	0.755;0.811	D	0.95728	0.8772	10	0.59425	D	0.04	.	19.9866	0.97352	0.0:0.0:1.0:0.0	.	344;330	F1T0F8;P26367	.;PAX6_HUMAN	L	344;330;344;159;344;129;330;344;330;330;194;194;330;285	ENSP00000404100:P344L;ENSP00000368427:P330L;ENSP00000368424:P344L;ENSP00000451885:P159L;ENSP00000368401:P344L;ENSP00000431961:P129L;ENSP00000241001:P330L;ENSP00000368410:P344L;ENSP00000368406:P330L;ENSP00000368418:P330L;ENSP00000451901:P194L;ENSP00000450775:P194L;ENSP00000368403:P330L;ENSP00000451372:P285L	ENSP00000241001:P330L	P	-	2	0	PAX6	31771605	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	9.426000	0.97469	2.698000	0.92095	0.643000	0.83706	CCG		0.557	PAX6-008	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000099293.4	NM_001604	
RCN1	5954	broad.mit.edu	37	11	32112940	32112940	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:32112940G>T	ENST00000054950.3	+	1	491	c.198G>T	c.(196-198)aaG>aaT	p.K66N	RCN1_ENST00000532942.1_Intron	NM_002901.2	NP_002892.1	Q15293	RCN1_HUMAN	reticulocalbin 1, EF-hand calcium binding domain	66					camera-type eye development (GO:0043010)|in utero embryonic development (GO:0001701)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	calcium ion binding (GO:0005509)	p.K66N(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)	17	Lung SC(675;0.225)					TCCTGGGCAAGGAGGACTCCA	0.701																																					p.K66N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G198T	11						.						17.0	13.0	15.0					11																	32112940		2083	4058	6141	32069516	SO:0001583	missense	5954	exon1			D42073	CCDS7876.1	11p13	2013-01-10			ENSG00000049449	ENSG00000049449		"""EF-hand domain containing"""	9934	protein-coding gene	gene with protein product	"""proliferation-inducing gene 20"""	602735		RCN		9192846, 8586628	Standard	NM_002901		Approved	Rcal, PIG20, FLJ37041	uc010reb.2	Q15293		ENST00000054950.3:c.198G>T	11.37:g.32112940G>T	ENSP00000054950:p.Lys66Asn		32069516	NM_002901	B7Z1M1|D3DR00	Missense_Mutation	SNP	ENST00000054950.3	37	CCDS7876.1	.	.	.	.	.	.	.	.	.	.	g	17.90	3.500911	0.64298	.	.	ENSG00000049449	ENST00000054950;ENST00000400416	T	0.52983	0.64	4.01	0.894	0.19242	.	0.052228	0.85682	U	0.000000	T	0.33265	0.0857	L	0.46741	1.465	0.58432	D	0.999995	P	0.40834	0.73	B	0.41723	0.365	T	0.08310	-1.0728	10	0.27785	T	0.31	-6.3337	1.1892	0.01862	0.2611:0.1553:0.4245:0.1592	.	66	Q15293	RCN1_HUMAN	N	66	ENSP00000054950:K66N	ENSP00000054950:K66N	K	+	3	2	RCN1	32069516	0.996000	0.38824	0.996000	0.52242	0.853000	0.48598	0.384000	0.20668	0.010000	0.14839	0.187000	0.17357	AAG		0.701	RCN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388510.1	NM_002901	
PRR5L	79899	broad.mit.edu	37	11	36472871	36472871	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:36472871C>T	ENST00000378867.3	+	9	1053	c.698C>T	c.(697-699)cCc>cTc	p.P233L	PRR5L_ENST00000530639.1_Missense_Mutation_p.P233L|PRR5L_ENST00000311599.5_Missense_Mutation_p.P160L|PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000527487.1_Intron	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	233					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|regulation of fibroblast migration (GO:0010762)|TORC2 signaling (GO:0038203)	mitochondrion (GO:0005739)|TORC2 complex (GO:0031932)	ubiquitin protein ligase binding (GO:0031625)	p.P233L(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						TTCTCAGGCCCCACGTACACG	0.532																																					p.P233L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C698T	11						.						115.0	92.0	100.0					11																	36472871		2202	4298	6500	36429447	SO:0001583	missense	79899	exon9				CCDS31463.1, CCDS53617.1	11p13-p12	2009-07-09				ENSG00000135362			25878	protein-coding gene	gene with protein product	"""protein observed with Rictor-2"""	611728				17461779	Standard	NM_024841		Approved	FLJ14213, PROTOR-2	uc001mwp.3	Q6MZQ0		ENST00000378867.3:c.698C>T	11.37:g.36472871C>T	ENSP00000368144:p.Pro233Leu		36429447	NM_024841	A4QN22|E9PKY1|Q96H46|Q9H7V4	Missense_Mutation	SNP	ENST00000378867.3	37	CCDS31463.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.332892	0.41297	.	.	ENSG00000135362	ENST00000530639;ENST00000311599;ENST00000378867	T;T;T	0.81163	-1.46;-1.46;-1.46	5.16	4.18	0.49190	.	0.445861	0.23795	N	0.044485	T	0.74068	0.3668	L	0.48642	1.525	0.09310	N	0.999998	B;B	0.22414	0.069;0.025	B;B	0.24701	0.055;0.022	T	0.63853	-0.6543	10	0.37606	T	0.19	-29.554	11.7802	0.52010	0.0:0.7076:0.2924:0.0	.	105;233	Q6MZQ0-3;Q6MZQ0	.;PRR5L_HUMAN	L	233;160;233	ENSP00000435050:P233L;ENSP00000310103:P160L;ENSP00000368144:P233L	ENSP00000310103:P160L	P	+	2	0	PRR5L	36429447	0.001000	0.12720	0.738000	0.30950	0.109000	0.19521	0.666000	0.25097	2.417000	0.82017	0.313000	0.20887	CCC		0.532	PRR5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389209.1	NM_024841	
DGKZ	8525	broad.mit.edu	37	11	46398756	46398756	+	Missense_Mutation	SNP	C	C	T	rs368913796		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:46398756C>T	ENST00000454345.1	+	26	3025	c.2900C>T	c.(2899-2901)aCg>aTg	p.T967M	DGKZ_ENST00000395574.3_Missense_Mutation_p.T745M|DGKZ_ENST00000532868.2_Missense_Mutation_p.T783M|DGKZ_ENST00000421244.2_Missense_Mutation_p.T779M|DGKZ_ENST00000543978.1_Missense_Mutation_p.T131M|DGKZ_ENST00000456247.2_Missense_Mutation_p.T778M|DGKZ_ENST00000527911.1_Missense_Mutation_p.T779M|DGKZ_ENST00000343674.6_Missense_Mutation_p.T795M|DGKZ_ENST00000528615.1_Missense_Mutation_p.T557M|MIR4688_ENST00000577966.1_RNA|DGKZ_ENST00000318201.8_Missense_Mutation_p.T756M	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	967					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)	p.T967M(1)|p.T795M(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		TGCTCACCCACGCCCCGGTGA	0.642																																					p.T779M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2336T	11						.	C	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	0,4400		0,0,2200	39.0	36.0	37.0		2348,2384,2336,2267,2333,2336,2900	0.8	0.8	11		37	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense,missense,missense,missense,missense	DGKZ	NM_201533.3,NM_201532.2,NM_003646.3,NM_001199268.1,NM_001199267.1,NM_001199266.1,NM_001105540.1	81,81,81,81,81,81,81	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign,benign,benign,benign	783/934,795/946,779/930,756/907,778/929,779/935,967/1118	46398756	1,12997	2200	4299	6499	46355332	SO:0001583	missense	8525	exon25			U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"""diacylglycerol kinase, zeta 104kDa"""			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.2900C>T	11.37:g.46398756C>T	ENSP00000412178:p.Thr967Met		46355332	NM_003646	B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	ENST00000454345.1	37	CCDS41640.1	.	.	.	.	.	.	.	.	.	.	C	8.291	0.817712	0.16607	0.0	1.16E-4	ENSG00000149091	ENST00000343674;ENST00000528615;ENST00000395574;ENST00000532868;ENST00000543978;ENST00000527911;ENST00000456247;ENST00000421244;ENST00000318201;ENST00000454345	T;T;T;T;T;T;T;T;T;T	0.24723	2.39;2.57;2.57;2.62;2.82;3.58;2.38;2.45;2.57;1.84	2.99	0.756	0.18421	.	0.928117	0.09006	U	0.862291	T	0.19644	0.0472	L	0.38175	1.15	0.09310	N	1	P;P;B;P;B;P;P;P;P	0.43973	0.823;0.646;0.173;0.713;0.335;0.81;0.81;0.493;0.823	B;B;B;B;B;B;B;B;B	0.37780	0.2;0.186;0.029;0.2;0.06;0.258;0.258;0.172;0.2	T	0.18272	-1.0342	10	0.46703	T	0.11	.	10.3399	0.43870	0.0:0.6189:0.3811:0.0	.	756;744;722;779;967;778;779;745;795	B7Z2M9;B7Z6M3;B7Z8F6;E9PPW4;Q13574;Q13574-2;G3V0F6;A8MVN1;Q6ZVG7	.;.;.;.;DGKZ_HUMAN;.;.;.;.	M	795;557;745;744;131;779;778;779;756;967	ENSP00000343065:T795M;ENSP00000434719:T557M;ENSP00000378941:T745M;ENSP00000436273:T744M;ENSP00000438417:T131M;ENSP00000436291:T779M;ENSP00000395684:T778M;ENSP00000391021:T779M;ENSP00000320340:T756M;ENSP00000412178:T967M	ENSP00000320340:T756M	T	+	2	0	DGKZ	46355332	0.026000	0.19158	0.834000	0.33040	0.435000	0.31806	0.837000	0.27558	0.571000	0.29365	0.484000	0.47621	ACG		0.642	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	NM_001105540	
F2	2147	broad.mit.edu	37	11	46741326	46741326	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:46741326C>T	ENST00000311907.5	+	2	210	c.154C>T	c.(154-156)Cgc>Tgc	p.R52C	F2_ENST00000530231.1_Missense_Mutation_p.R52C	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	52	Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell surface receptor signaling pathway (GO:0007166)|cellular protein metabolic process (GO:0044267)|cytosolic calcium ion homeostasis (GO:0051480)|fibrinolysis (GO:0042730)|leukocyte migration (GO:0050900)|multicellular organismal development (GO:0007275)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|negative regulation of proteolysis (GO:0045861)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900738)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of blood coagulation (GO:0030193)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|thrombospondin receptor activity (GO:0070053)			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|ART-123(DB05777)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Dabigatran etexilate(DB06695)|Drotrecogin alfa(DB00055)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Suramin(DB04786)|Ximelagatran(DB04898)	GGAGGAGGTGCGCAAGGGCAA	0.662																																					p.R52C	Esophageal Squamous(147;1147 1808 2148 38609 51144)											.	.	0			c.C154T	11						.																																			46697902	SO:0001583	missense	2147	exon2			M33031	CCDS31476.1	11p11.2	2013-02-28			ENSG00000180210	ENSG00000180210	3.4.21.5	"""Endogenous ligands"""	3535	protein-coding gene	gene with protein product	"""prepro-coagulation factor II"""	176930					Standard	NM_000506		Approved		uc001ndf.4	P00734	OTTHUMG00000150344	ENST00000311907.5:c.154C>T	11.37:g.46741326C>T	ENSP00000308541:p.Arg52Cys		46697902	NM_000506	B2R7F7|B4E1A7|Q4QZ40|Q53H04|Q53H06|Q69EZ7|Q7Z7P3|Q9UCA1	Missense_Mutation	SNP	ENST00000311907.5	37	CCDS31476.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.045746	0.36085	.	.	ENSG00000180210	ENST00000311907;ENST00000530231;ENST00000442468	D;D;D	0.99220	-5.58;-5.58;-5.58	5.34	4.44	0.53790	Gamma-carboxyglutamic acid-rich (GLA) domain (5);Coagulation factor, subgroup, Gla domain (1);	0.475947	0.23859	N	0.043875	D	0.99333	0.9766	M	0.88310	2.945	0.19775	N	0.999951	D	0.89917	1.0	D	0.71414	0.973	D	0.97273	0.9912	10	0.87932	D	0	.	9.1573	0.37000	0.1436:0.7811:0.0:0.0754	.	52	P00734	THRB_HUMAN	C	52;52;42	ENSP00000308541:R52C;ENSP00000433907:R52C;ENSP00000387413:R42C	ENSP00000308541:R52C	R	+	1	0	F2	46697902	1.000000	0.71417	0.058000	0.19502	0.034000	0.12701	1.862000	0.39448	1.278000	0.44430	-0.362000	0.07510	CGC		0.662	F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317706.1		
CELF1	10658	broad.mit.edu	37	11	47496958	47496958	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:47496958C>T	ENST00000358597.3	-	10	1118	c.1119G>A	c.(1117-1119)gcG>gcA	p.A373A	CELF1_ENST00000310513.5_Silent_p.A369A|CELF1_ENST00000361904.3_Silent_p.A370A|CELF1_ENST00000532048.1_Silent_p.A399A|CELF1_ENST00000395290.2_Silent_p.A372A|CELF1_ENST00000395292.2_Silent_p.A370A|CELF1_ENST00000531165.1_Silent_p.A401A|CELF1_ENST00000539455.1_5'UTR			Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1	373					embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of translation (GO:0017148)|positive regulation of multicellular organism growth (GO:0040018)|regulation of RNA splicing (GO:0043484)|RNA interference (GO:0016246)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation repressor activity, nucleic acid binding (GO:0000900)	p.A373A(1)		central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						GAGTGGGGAGCGCAGCAGCAG	0.577																																					p.A399A	Pancreas(163;1949 1966 9906 43218 43785)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1197A	11						.						82.0	75.0	78.0					11																	47496958		2201	4298	6499	47453534	SO:0001819	synonymous_variant	10658	exon13			U63289	CCDS7938.1, CCDS7939.1, CCDS31482.1, CCDS53622.1, CCDS53623.1	11p11	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	2549	protein-coding gene	gene with protein product	"""CUG RNA-binding protein"", ""nuclear polyadenylated RNA-binding protein, 50-kD"", ""bruno-like 2"", ""embryo deadenylation element binding protein"""	601074	"""CUG triplet repeat, RNA-binding protein 1"", ""CUG triplet repeat, RNA binding protein 1"""	CUGBP1		8948631, 9371827	Standard	NM_006560		Approved	CUG-BP, hNab50, BRUNOL2, NAB50, CUGBP, NAPOR, EDEN-BP	uc001nfl.3	Q92879		ENST00000358597.3:c.1119G>A	11.37:g.47496958C>T			47453534	NM_001172639	B4E2U5|D3DQS0|F8W940|Q4LE52|Q9NP83|Q9NR06	Silent	SNP	ENST00000358597.3	37	CCDS31482.1																																																																																				0.577	CELF1-024	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398352.1	NM_006560	
KBTBD4	55709	broad.mit.edu	37	11	47599025	47599025	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:47599025T>G	ENST00000526005.1	-	2	680	c.527A>C	c.(526-528)cAg>cCg	p.Q176P	KBTBD4_ENST00000430070.2_Missense_Mutation_p.Q192P|RNU5E-10P_ENST00000363506.1_RNA|KBTBD4_ENST00000450908.1_5'Flank|KBTBD4_ENST00000533290.1_Missense_Mutation_p.Q201P|KBTBD4_ENST00000525720.1_Missense_Mutation_p.Q225P|NDUFS3_ENST00000263774.4_5'Flank|NDUFS3_ENST00000529276.1_5'Flank|NDUFS3_ENST00000534716.2_5'Flank|NDUFS3_ENST00000534208.1_5'Flank|KBTBD4_ENST00000395288.2_Missense_Mutation_p.Q176P|NDUFS3_ENST00000528192.1_5'Flank|NDUFS3_ENST00000533507.1_Intron			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	176	BACK.							p.Q176P(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						ATTCTGCAGCTGGGCCAGGTG	0.537																																					p.Q176P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A527C	11						.						108.0	110.0	109.0					11																	47599025		2201	4298	6499	47555601	SO:0001583	missense	55709	exon2			AF151086	CCDS7940.1, CCDS44594.1	11p11.2	2013-01-08	2003-12-12	2003-12-17	ENSG00000123444	ENSG00000123444		"""BTB/POZ domain containing"""	23761	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 4"""	BKLHD4		11042152	Standard	NM_018095		Approved	FLJ10450, HSPC252	uc001nfz.3	Q9NVX7	OTTHUMG00000166894	ENST00000526005.1:c.527A>C	11.37:g.47599025T>G	ENSP00000433340:p.Gln176Pro		47555601	NM_016506	D3DQS1|D3DQS2|Q6IA85|Q9BUC3|Q9NV76	Missense_Mutation	SNP	ENST00000526005.1	37	CCDS7940.1	.	.	.	.	.	.	.	.	.	.	T	16.18	3.050043	0.55218	.	.	ENSG00000123444	ENST00000526005;ENST00000533290;ENST00000395288;ENST00000359900;ENST00000430070;ENST00000525720;ENST00000529499	T;T;T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42;-0.42;-0.42	5.4	4.06	0.47325	BTB/Kelch-associated (2);	0.054742	0.85682	D	0.000000	T	0.63965	0.2556	L	0.47716	1.5	0.80722	D	1	P;B;P	0.42123	0.729;0.144;0.771	B;B;P	0.44946	0.193;0.2;0.465	T	0.68823	-0.5307	10	0.72032	D	0.01	-15.8168	11.7916	0.52073	0.0:0.0807:0.0:0.9193	.	192;176;201	Q9NVX7-2;Q9NVX7;B3KRH9	.;KBTB4_HUMAN;.	P	176;201;176;185;192;225;176	ENSP00000433340:Q176P;ENSP00000436713:Q201P;ENSP00000378703:Q176P;ENSP00000415106:Q192P;ENSP00000434477:Q225P;ENSP00000433404:Q176P	ENSP00000352971:Q185P	Q	-	2	0	KBTBD4	47555601	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.862000	0.62976	2.038000	0.60285	0.379000	0.24179	CAG		0.537	KBTBD4-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000391763.1	NM_016506	
OR5D18	219438	broad.mit.edu	37	11	55587764	55587764	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:55587764C>T	ENST00000333976.4	+	1	679	c.659C>T	c.(658-660)gCg>gTg	p.A220V		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A220V(2)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				ACATCTTATGCGTTCATTGTT	0.478																																					p.A220V												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.C659T	11						.						187.0	154.0	165.0					11																	55587764		2200	4296	6496	55344340	SO:0001583	missense	219438	exon1			AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.659C>T	11.37:g.55587764C>T	ENSP00000335025:p.Ala220Val		55344340	NM_001001952	Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.404286	0.00195	.	.	ENSG00000186119	ENST00000333976	T	0.00024	8.97	4.85	-2.03	0.07365	GPCR, rhodopsin-like superfamily (1);	1.024280	0.07845	N	0.963771	T	0.00073	0.0002	N	0.04768	-0.165	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.00261	-1.1868	10	0.15499	T	0.54	0.0276	5.2084	0.15302	0.0:0.2842:0.2685:0.4473	.	220	Q8NGL1	OR5DI_HUMAN	V	220	ENSP00000335025:A220V	ENSP00000335025:A220V	A	+	2	0	OR5D18	55344340	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	0.337000	0.19841	-0.249000	0.09569	-1.530000	0.00923	GCG		0.478	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952	
APLNR	187	broad.mit.edu	37	11	57003529	57003529	+	Missense_Mutation	SNP	C	C	T	rs200854787		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:57003529C>T	ENST00000606794.1	-	1	1146	c.950G>A	c.(949-951)cGc>cAc	p.R317H		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	317					G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation (GO:0007369)|heart development (GO:0007507)|regulation of body fluid levels (GO:0050878)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)	p.R317H(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						GCAGGCCTGGCGGAAGCGGGG	0.607																																					p.R317H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G950A	11						.						79.0	47.0	58.0					11																	57003529		2201	4296	6497	56760105	SO:0001583	missense	187	exon1			U03642	CCDS7950.1	11q12.1	2012-08-08	2008-05-12	2008-05-12	ENSG00000134817	ENSG00000134817			339	protein-coding gene	gene with protein product	"""APJ (apelin) receptor"""	600052	"""angiotensin II receptor-like 1"""	AGTRL1		8294032, 14622440	Standard	NM_005161		Approved	FLJ90771, APJ, APJR	uc001njo.3	P35414	OTTHUMG00000167021	ENST00000606794.1:c.950G>A	11.37:g.57003529C>T	ENSP00000475344:p.Arg317His		56760105	NM_005161		Missense_Mutation	SNP	ENST00000606794.1	37	CCDS7950.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.717007	0.89205	.	.	ENSG00000134817	ENST00000257254;ENST00000326830;ENST00000444275	T	0.58358	0.34	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.61515	0.2353	N	0.19112	0.55	0.54753	D	0.999987	D	0.89917	1.0	D	0.91635	0.999	T	0.67011	-0.5778	10	0.87932	D	0	-31.5793	18.8995	0.92437	0.0:1.0:0.0:0.0	.	317	P35414	APJ_HUMAN	H	317;198;236	ENSP00000257254:R317H	ENSP00000257254:R317H	R	-	2	0	APLNR	56760105	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.003000	0.70701	2.551000	0.86045	0.655000	0.94253	CGC		0.607	APLNR-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470575.1	NM_005161	
TNKS1BP1	85456	broad.mit.edu	37	11	57076915	57076915	+	Silent	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:57076915A>G	ENST00000532437.1	-	5	3581	c.3270T>C	c.(3268-3270)ttT>ttC	p.F1090F	TNKS1BP1_ENST00000358252.3_Silent_p.F1090F|TNKS1BP1_ENST00000530920.1_5'Flank			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1090	Acidic.|Gly-rich.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)	p.F1090F(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CACTGAGGCTAAACTCACCGA	0.627																																					p.F1090F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T3270C	11						.						81.0	67.0	71.0					11																	57076915		2201	4296	6497	56833491	SO:0001819	synonymous_variant	85456	exon6			AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.3270T>C	11.37:g.57076915A>G			56833491	NM_033396	A7E2F8|Q6PJ35|Q6ZV74	Silent	SNP	ENST00000532437.1	37	CCDS7951.1																																																																																				0.627	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396	
SLC43A3	29015	broad.mit.edu	37	11	57185284	57185284	+	Missense_Mutation	SNP	C	C	T	rs188327992	byFrequency	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:57185284C>T	ENST00000395123.2	-	8	912	c.608G>A	c.(607-609)cGc>cAc	p.R203H	SLC43A3_ENST00000529554.1_Missense_Mutation_p.R203H|SLC43A3_ENST00000352187.1_Missense_Mutation_p.R203H|SLC43A3_ENST00000533524.1_Missense_Mutation_p.R216H|SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000395124.1_Missense_Mutation_p.R203H	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	203					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.R203H(2)		central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						GAGGAAAGTGCGTGCTACATG	0.542													C|||	3	0.000599042	0.0	0.0043	5008	,	,		19328	0.0		0.0	False		,,,				2504	0.0				p.R203H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G608A	11						.	C	HIS/ARG,HIS/ARG,HIS/ARG	0,4402		0,0,2201	108.0	97.0	101.0		608,608,608	5.5	0.1	11		101	3,8589	3.0+/-9.4	0,3,4293	yes	missense,missense,missense	SLC43A3	NM_014096.2,NM_017611.2,NM_199329.1	29,29,29	0,3,6494	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging,probably-damaging,probably-damaging	203/492,203/492,203/492	57185284	3,12991	2201	4296	6497	56941860	SO:0001583	missense	5553	exon8			AL157431	CCDS7956.1, CCDS60784.1	11q11	2013-05-22			ENSG00000134802	ENSG00000134802		"""Solute carriers"""	17466	protein-coding gene	gene with protein product	"""likely ortholog of mouse embryonic epithelial gene 1"""					7531438, 11704567	Standard	NM_017611		Approved	SEEEG-1, Eeg1, DKFZp762A227, FOAP-13, PRO1659	uc001nki.3	Q8NBI5	OTTHUMG00000167113	ENST00000395123.2:c.608G>A	11.37:g.57185284C>T	ENSP00000378555:p.Arg203His		56941860	NM_199329	B4DNR8|E7EQD2|Q9NSS4	Missense_Mutation	SNP	ENST00000395123.2	37	CCDS7956.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	25.3	4.622672	0.87460	0.0	3.49E-4	ENSG00000134802	ENST00000395123;ENST00000395124;ENST00000352187;ENST00000529554;ENST00000533524;ENST00000530005	T;T;T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41;-1.41;0.32	5.48	5.48	0.80851	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.89413	0.6708	M	0.83483	2.645	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.996;0.998;0.996	D	0.86539	0.1827	10	0.15066	T	0.55	-17.5211	17.1335	0.86733	0.0:1.0:0.0:0.0	.	203;216;203;203	B4DV87;E7EQD2;Q8NBI5;A8K2X6	.;.;S43A3_HUMAN;.	H	203;203;203;203;216;203	ENSP00000378555:R203H;ENSP00000378556:R203H;ENSP00000337561:R203H;ENSP00000436254:R203H;ENSP00000434515:R216H;ENSP00000435893:R203H	ENSP00000337561:R203H	R	-	2	0	SLC43A3	56941860	1.000000	0.71417	0.118000	0.21660	0.627000	0.37826	6.766000	0.74970	2.586000	0.87340	0.462000	0.41574	CGC		0.542	SLC43A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393057.1	NM_017611	
SLC43A1	8501	broad.mit.edu	37	11	57268319	57268319	+	Missense_Mutation	SNP	G	G	A	rs202015221		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:57268319G>A	ENST00000278426.3	-	5	753	c.398C>T	c.(397-399)cCg>cTg	p.P133L	SLC43A1_ENST00000528450.1_Missense_Mutation_p.P133L|SLC43A1_ENST00000533515.1_5'Flank	NM_003627.5	NP_003618.1			solute carrier family 43 (amino acid system L transporter), member 1									p.P133L(2)		breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GAATATCAACGGAGACAGAGC	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		18928	0.001		0.0	False		,,,				2504	0.0				p.P133L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C398T	11						.						109.0	110.0	109.0					11																	57268319		2201	4296	6497	57024895	SO:0001583	missense	8501	exon5			AF045584	CCDS7958.1	11q12.1	2013-07-17	2013-07-17	2003-09-12	ENSG00000149150	ENSG00000149150		"""Solute carriers"""	9225	protein-coding gene	gene with protein product		603733	"""prostate cancer overexpressed gene 1"""	POV1		9255310, 9722952	Standard	NM_003627		Approved	R00504, PB39	uc001nkk.3	O75387	OTTHUMG00000167030	ENST00000278426.3:c.398C>T	11.37:g.57268319G>A	ENSP00000278426:p.Pro133Leu		57024895	NM_003627		Missense_Mutation	SNP	ENST00000278426.3	37	CCDS7958.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	12.53	1.965630	0.34659	.	.	ENSG00000149150	ENST00000278426;ENST00000528450;ENST00000533066	T;T;T	0.58940	0.3;0.3;0.3	5.25	4.31	0.51392	Major facilitator superfamily domain, general substrate transporter (1);	0.237019	0.42294	D	0.000724	T	0.50069	0.1594	L	0.60455	1.87	0.47819	D	0.999522	B	0.17268	0.021	B	0.18263	0.021	T	0.41805	-0.9488	10	0.10902	T	0.67	-20.4826	12.2509	0.54597	0.0:0.0:0.8294:0.1705	.	133	O75387	LAT3_HUMAN	L	133	ENSP00000278426:P133L;ENSP00000435673:P133L;ENSP00000435647:P133L	ENSP00000278426:P133L	P	-	2	0	SLC43A1	57024895	0.496000	0.26059	0.884000	0.34674	0.819000	0.46315	1.670000	0.37502	1.163000	0.42636	0.655000	0.94253	CCG		0.582	SLC43A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392541.1	NM_003627	
CLP1	10978	broad.mit.edu	37	11	57428534	57428534	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:57428534C>T	ENST00000302731.4	+	3	832	c.712C>T	c.(712-714)Cgt>Tgt	p.R238C	CLP1_ENST00000529430.1_Missense_Mutation_p.R313C|CLP1_ENST00000525602.1_Missense_Mutation_p.R302C|CLP1_ENST00000533682.1_Missense_Mutation_p.R302C	NM_001142597.1|NM_006831.2	NP_001136069.1|NP_006822.1	Q5KU26	COL12_HUMAN	cleavage and polyadenylation factor I subunit 1	0					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)	p.R302C(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1)	15						TGAGCGTATCCGTGAGTATTT	0.517																																					p.R238C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C712T	11						.						150.0	152.0	152.0					11																	57428534		2201	4296	6497	57185110	SO:0001583	missense	10978	exon3			BC000446	CCDS7964.1, CCDS44600.1	11q12.1	2012-10-02	2012-10-02		ENSG00000172409	ENSG00000172409	2.7.1.78		16999	protein-coding gene	gene with protein product	"""ATP/GTPbinding protein"", ""polyribonucleotide 5'-hydroxyl-kinase"""	608757	"""CLP1, cleavage and polyadenylation factor I subunit, homolog (S. cerevisiae)"""			8896421, 11060040	Standard	NM_006831		Approved	HEAB, hClp1	uc001nkw.3	Q92989	OTTHUMG00000167146	ENST00000302731.4:c.712C>T	11.37:g.57428534C>T	ENSP00000304704:p.Arg238Cys		57185110	NM_001142597	Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	ENST00000302731.4	37	CCDS44600.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.126242	0.77549	.	.	ENSG00000172409	ENST00000529430;ENST00000533682;ENST00000525602;ENST00000302731	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.9	5.9	0.94986	Pre-mRNA cleavage complex II Clp1 (1);	0.000000	0.85682	D	0.000000	T	0.64724	0.2624	M	0.75150	2.29	0.80722	D	1	D;P	0.89917	1.0;0.809	D;B	0.72625	0.978;0.288	T	0.65166	-0.6234	10	0.56958	D	0.05	-20.6227	15.7486	0.77967	0.137:0.863:0.0:0.0	.	238;302	Q92989-2;Q92989	.;CLP1_HUMAN	C	313;302;302;238	ENSP00000433406:R313C;ENSP00000434995:R302C;ENSP00000436066:R302C;ENSP00000304704:R238C	ENSP00000304704:R238C	R	+	1	0	CLP1	57185110	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.754000	0.62191	2.808000	0.96608	0.650000	0.86243	CGT		0.517	CLP1-003	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000393465.1	NM_006831	
DAK	26007	broad.mit.edu	37	11	61105521	61105521	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:61105521C>A	ENST00000394900.3	+	3	341	c.112C>A	c.(112-114)Ctc>Atc	p.L38I	DAK_ENST00000530057.1_3'UTR	NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	38	DhaK. {ECO:0000255|PROSITE- ProRule:PRU00814}.				carbohydrate phosphorylation (GO:0046835)|cellular carbohydrate metabolic process (GO:0044262)|glycerol metabolic process (GO:0006071)|innate immune response (GO:0045087)|regulation of innate immune response (GO:0045088)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|FAD-AMP lyase (cyclizing) activity (GO:0034012)|glycerone kinase activity (GO:0004371)|metal ion binding (GO:0046872)|triokinase activity (GO:0050354)	p.L38I(1)		NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						CCGCGTGGCCCTCCGTTCTGA	0.672																																					p.L38I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C112A	11						.						45.0	49.0	47.0					11																	61105521		2203	4298	6501	60862097	SO:0001583	missense	26007	exon3				CCDS8003.1	11q12.2	2009-11-06	2006-04-04		ENSG00000149476	ENSG00000149476			24552	protein-coding gene	gene with protein product		615844	"""dihydroxyacetone kinase 2 homolog (yeast)"""				Standard	XM_005273898		Approved	DKFZP586B1621, NET45	uc001nre.3	Q3LXA3	OTTHUMG00000168076	ENST00000394900.3:c.112C>A	11.37:g.61105521C>A	ENSP00000378360:p.Leu38Ile		60862097	NM_015533	Q2L9C1|Q53EQ9|Q9BVA7|Q9H895	Missense_Mutation	SNP	ENST00000394900.3	37	CCDS8003.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.366491	0.61513	.	.	ENSG00000149476	ENST00000394900;ENST00000532173;ENST00000524968;ENST00000529479	T;T;T	0.29397	1.57;1.57;1.57	5.8	3.93	0.45458	Dak kinase (2);	0.197921	0.43416	D	0.000575	T	0.21550	0.0519	N	0.14661	0.345	0.39625	D	0.970098	B	0.27910	0.193	B	0.37091	0.241	T	0.11665	-1.0578	10	0.24483	T	0.36	-12.3174	11.7714	0.51960	0.0:0.8568:0.0:0.1432	.	38	Q3LXA3	DHAK_HUMAN	I	38;38;38;37	ENSP00000378360:L38I;ENSP00000431844:L38I;ENSP00000432539:L37I	ENSP00000378360:L38I	L	+	1	0	DAK	60862097	0.999000	0.42202	1.000000	0.80357	0.585000	0.36419	2.871000	0.48459	1.479000	0.48272	-0.266000	0.10368	CTC		0.672	DAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394425.4	NM_015533	
MACROD1	28992	broad.mit.edu	37	11	63884631	63884631	+	Intron	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:63884631C>T	ENST00000255681.6	-	3	584				RP11-21A7A.3_ENST00000543817.1_RNA|FLRT1_ENST00000246841.3_Missense_Mutation_p.R298W	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1						cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)	p.R298W(1)		breast(1)|large_intestine(3)|lung(6)|skin(1)	11						TGAGCTGGAGCGGCTGGACCT	0.627																																					p.R298W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C892T	11						.						53.0	40.0	44.0					11																	63884631		2201	4297	6498	63641207	SO:0001627	intron_variant	23769	exon2			AF202922	CCDS8056.1	11q13.1	2007-07-24	2007-06-11		ENSG00000133315	ENSG00000133315			29598	protein-coding gene	gene with protein product		610400				15691879	Standard	NM_014067		Approved	LRP16	uc001nyh.3	Q9BQ69	OTTHUMG00000167843	ENST00000255681.6:c.517+34079G>A	11.37:g.63884631C>T			63641207	NM_013280	Q9UH96	Missense_Mutation	SNP	ENST00000255681.6	37	CCDS8056.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.938685	0.34189	.	.	ENSG00000126500	ENST00000246841	T	0.57752	0.38	5.16	2.11	0.27256	.	0.063724	0.64402	D	0.000020	T	0.61274	0.2334	L	0.39085	1.19	0.40573	D	0.981321	D	0.89917	1.0	D	0.79784	0.993	T	0.62774	-0.6783	10	0.72032	D	0.01	-24.5	13.7204	0.62723	0.6744:0.3256:0.0:0.0	.	270	Q9NZU1	FLRT1_HUMAN	W	298	ENSP00000246841:R298W	ENSP00000246841:R298W	R	+	1	2	FLRT1	63641207	0.999000	0.42202	0.989000	0.46669	0.607000	0.37147	1.573000	0.36472	0.139000	0.18822	-0.320000	0.08662	CGG		0.627	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396570.1	NM_014067	
MACROD1	28992	broad.mit.edu	37	11	63885617	63885617	+	Intron	SNP	G	G	A	rs143811913	byFrequency	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:63885617G>A	ENST00000255681.6	-	3	584				RP11-21A7A.3_ENST00000543817.1_RNA|FLRT1_ENST00000246841.3_Silent_p.P626P	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1						cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)	p.P626P(1)		breast(1)|large_intestine(3)|lung(6)|skin(1)	11						CCATCAACCCGTACCGCGCCA	0.582													G|||	5	0.000998403	0.0023	0.0029	5008	,	,		18366	0.0		0.0	False		,,,				2504	0.0				p.P626P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1878A	11						.	G	,	9,4393	15.5+/-35.6	0,9,2192	77.0	69.0	71.0		1878,	-6.8	0.7	11	dbSNP_134	71	0,8594		0,0,4297	no	coding-synonymous,intron	FLRT1,MACROD1	NM_013280.4,NM_014067.3	,	0,9,6489	AA,AG,GG		0.0,0.2045,0.0693	,	626/675,	63885617	9,12987	2201	4297	6498	63642193	SO:0001627	intron_variant	23769	exon2			AF202922	CCDS8056.1	11q13.1	2007-07-24	2007-06-11		ENSG00000133315	ENSG00000133315			29598	protein-coding gene	gene with protein product		610400				15691879	Standard	NM_014067		Approved	LRP16	uc001nyh.3	Q9BQ69	OTTHUMG00000167843	ENST00000255681.6:c.517+33093C>T	11.37:g.63885617G>A			63642193	NM_013280	Q9UH96	Silent	SNP	ENST00000255681.6	37	CCDS8056.1																																																																																				0.582	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396570.1	NM_014067	
BAD	572	broad.mit.edu	37	11	64039157	64039157	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:64039157delG	ENST00000394532.3	-	2	576	c.306delC	c.(304-306)cccfs	p.P102fs	BAD_ENST00000544785.1_Intron|BAD_ENST00000394531.3_Frame_Shift_Del_p.P149fs|BAD_ENST00000309032.3_Frame_Shift_Del_p.P102fs	NM_004322.3	NP_004313.1	Q92934	BAD_HUMAN	BCL2-associated agonist of cell death	102					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ADP metabolic process (GO:0046031)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|ATP metabolic process (GO:0046034)|cellular process regulating host cell cycle in response to virus (GO:0060154)|cellular response to chromate (GO:0071247)|cellular response to hypoxia (GO:0071456)|cellular response to lipid (GO:0071396)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose catabolic process (GO:0006007)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|pore complex assembly (GO:0046931)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic process by virus (GO:0060139)|positive regulation of autophagy (GO:0010508)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of glucokinase activity (GO:0033133)|positive regulation of insulin secretion (GO:0032024)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane potential (GO:0010918)|positive regulation of neuron death (GO:1901216)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of mitochondrial membrane permeability (GO:0046902)|release of cytochrome c from mitochondria (GO:0001836)|response to amino acid (GO:0043200)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to oleic acid (GO:0034201)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|suppression by virus of host apoptotic process (GO:0019050)|type B pancreatic cell proliferation (GO:0044342)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|lipid binding (GO:0008289)|phospholipid binding (GO:0005543)|protein kinase binding (GO:0019901)	p.N103fs*15(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4						CCCAGAGGTTGGGGGGCGCCG	0.692																																					p.P102fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.306delC	11						.						19.0	18.0	18.0					11																	64039157		2155	4225	6380	63795733	SO:0001589	frameshift_variant	572	exon2			AF021792	CCDS8065.1	11q13.1	2014-03-07	2008-08-19		ENSG00000002330	ENSG00000002330			936	protein-coding gene	gene with protein product		603167				8929532	Standard	NM_004322		Approved	BCL2L8, BBC2	uc001nzd.3	Q92934	OTTHUMG00000134302	ENST00000394532.3:c.306delC	11.37:g.64039157delG	ENSP00000378040:p.Pro102fs		63795733	NM_004322	O14803|Q6FH21	Frame_Shift_Del	DEL	ENST00000394532.3	37	CCDS8065.1																																																																																				0.692	BAD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259180.2	NM_032989	
RASGRP2	10235	broad.mit.edu	37	11	64504448	64504448	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:64504448C>T	ENST00000354024.3	-	9	1124	c.872G>A	c.(871-873)cGt>cAt	p.R291H	RASGRP2_ENST00000394432.3_Missense_Mutation_p.R291H|RASGRP2_ENST00000377497.3_Missense_Mutation_p.R291H|RASGRP2_ENST00000377494.1_Missense_Mutation_p.R291H	NM_153819.1	NP_722541.1	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	291	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				blood coagulation (GO:0007596)|cellular response to calcium ion (GO:0071277)|platelet activation (GO:0030168)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)	p.R353H(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGCCAGCCGACGCCGGTAGTT	0.627																																					p.R291H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G872A	11						.						37.0	38.0	38.0					11																	64504448		2201	4297	6498	64261024	SO:0001583	missense	10235	exon9			U78170	CCDS31598.1	11q13	2014-09-17			ENSG00000068831	ENSG00000068831		"""EF-hand domain containing"""	9879	protein-coding gene	gene with protein product		605577				9789079	Standard	NM_001098670		Approved	CALDAG-GEFI	uc009ypv.3	Q7LDG7	OTTHUMG00000045420	ENST00000354024.3:c.872G>A	11.37:g.64504448C>T	ENSP00000338864:p.Arg291His		64261024	NM_001098670	A6NDC7|O00538|Q9UL65	Missense_Mutation	SNP	ENST00000354024.3	37	CCDS31598.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.495563	0.85069	.	.	ENSG00000068831	ENST00000377494;ENST00000394432;ENST00000377497;ENST00000354024	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	5.12	5.12	0.69794	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.059179	0.64402	D	0.000006	T	0.34861	0.0912	L	0.55743	1.74	0.80722	D	1	P;P	0.40360	0.714;0.714	B;B	0.40782	0.34;0.34	T	0.19095	-1.0316	10	0.59425	D	0.04	1.5248	16.4218	0.83760	0.0:1.0:0.0:0.0	.	291;291	Q7LDG7;A6NDC7	GRP2_HUMAN;.	H	291	ENSP00000366714:R291H;ENSP00000377953:R291H;ENSP00000366717:R291H;ENSP00000338864:R291H	ENSP00000338864:R291H	R	-	2	0	RASGRP2	64261024	0.063000	0.20901	1.000000	0.80357	0.894000	0.52154	1.709000	0.37909	2.550000	0.86006	0.579000	0.79373	CGT		0.627	RASGRP2-002	NOVEL	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142062.1	NM_153819	
EHD1	10938	broad.mit.edu	37	11	64622022	64622022	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:64622022G>A	ENST00000320631.3	-	5	1642	c.1388C>T	c.(1387-1389)aCg>aTg	p.T463M	EHD1_ENST00000488711.1_5'UTR|EHD1_ENST00000359393.2_Missense_Mutation_p.T463M	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	463	EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				blood coagulation (GO:0007596)|cellular response to nerve growth factor stimulus (GO:1990090)|cholesterol homeostasis (GO:0042632)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|low-density lipoprotein particle clearance (GO:0034383)|neuron projection development (GO:0031175)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein homooligomerization (GO:0051260)	early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rab GTPase binding (GO:0017137)	p.T463M(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						GTTGGCGCCCGTGATCTTGCC	0.622																																					p.T463M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1388T	11						.						200.0	161.0	175.0					11																	64622022		2201	4297	6498	64378598	SO:0001583	missense	10938	exon5			AF099011	CCDS8084.1, CCDS73315.1	11q13	2013-01-10			ENSG00000110047	ENSG00000110047		"""EF-hand domain containing"""	3242	protein-coding gene	gene with protein product	"""testilin"""	605888		PAST1		10395801, 10673336	Standard	NM_001282444		Approved	H-PAST, HPAST1, FLJ42622, FLJ44618	uc001obu.1	Q9H4M9	OTTHUMG00000066832	ENST00000320631.3:c.1388C>T	11.37:g.64622022G>A	ENSP00000320516:p.Thr463Met		64378598	NM_006795	O14611|Q2M3Q4|Q9UNR3	Missense_Mutation	SNP	ENST00000320631.3	37	CCDS8084.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.200885	0.79015	.	.	ENSG00000110047	ENST00000320631;ENST00000359393;ENST00000541001	T;T	0.36157	1.27;1.27	4.53	4.53	0.55603	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.106321	0.64402	D	0.000004	T	0.57989	0.2091	M	0.91768	3.24	0.53688	D	0.999972	D;D	0.67145	0.996;0.996	P;P	0.51516	0.672;0.672	T	0.71347	-0.4620	10	0.87932	D	0	.	14.7985	0.69894	0.0:0.0:1.0:0.0	.	463;463	B2R5U3;Q9H4M9	.;EHD1_HUMAN	M	463;463;439	ENSP00000320516:T463M;ENSP00000352354:T463M	ENSP00000320516:T463M	T	-	2	0	EHD1	64378598	1.000000	0.71417	0.992000	0.48379	0.980000	0.70556	7.580000	0.82523	2.355000	0.79922	0.561000	0.74099	ACG		0.622	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143229.2	NM_006795	
PCNXL3	399909	broad.mit.edu	37	11	65396167	65396167	+	Silent	SNP	C	C	T	rs369577987|rs34436297		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:65396167C>T	ENST00000355703.3	+	23	4343	c.3804C>T	c.(3802-3804)gcC>gcT	p.A1268A		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1268						integral component of membrane (GO:0016021)		p.A1268A(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						AGCCGTTTGCCGTGCCACGTA	0.657																																					p.A1268A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3804T	11						.	C		1,4093		0,1,2046	44.0	46.0	45.0		3804	-6.9	0.7	11		45	2,8394		0,2,4196	no	coding-synonymous	PCNXL3	NM_032223.2		0,3,6242	TT,TC,CC		0.0238,0.0244,0.024		1268/2035	65396167	3,12487	2047	4198	6245	65152743	SO:0001819	synonymous_variant	399909	exon23			BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.3804C>T	11.37:g.65396167C>T			65152743	NM_032223	Q6MZN8	Silent	SNP	ENST00000355703.3	37	CCDS44650.1																																																																																				0.657	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223	
SF3B2	10992	broad.mit.edu	37	11	65826513	65826513	+	Silent	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	T	T	T	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:65826513T>C	ENST00000322535.6	+	10	1228	c.1179T>C	c.(1177-1179)ttT>ttC	p.F393F	SF3B2_ENST00000528302.1_Silent_p.F376F	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	393					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						TTGAGGCTTTTAAGGTACAAG	0.488																																					p.F393F												.	.	0			c.T1179C	11						.						66.0	67.0	67.0					11																	65826513		2201	4295	6496	65583089	SO:0001819	synonymous_variant	10992	exon10			U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"""splicing factor 3b, subunit 2, 145kD"""			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.1179T>C	11.37:g.65826513T>C			65583089	NM_006842	A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Silent	SNP	ENST00000322535.6	37	CCDS31612.1																																																																																				0.488	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391352.2		
SF3B2	10992	broad.mit.edu	37	11	65827422	65827422	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:65827422T>G	ENST00000322535.6	+	13	1620	c.1571T>G	c.(1570-1572)cTg>cGg	p.L524R	SF3B2_ENST00000528302.1_Missense_Mutation_p.L507R	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	524					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)	p.L524R(1)		breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						CCCTTCGAGCTGCCAGACTTC	0.622																																					p.L524R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1571G	11						.						64.0	60.0	61.0					11																	65827422		2201	4295	6496	65583998	SO:0001583	missense	10992	exon13			U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"""splicing factor 3b, subunit 2, 145kD"""			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.1571T>G	11.37:g.65827422T>G	ENSP00000318861:p.Leu524Arg		65583998	NM_006842	A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Missense_Mutation	SNP	ENST00000322535.6	37	CCDS31612.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.810657	0.90707	.	.	ENSG00000087365	ENST00000528302;ENST00000322535;ENST00000355456	.	.	.	5.96	5.96	0.96718	Domain of unknown function DUF382 (1);	0.000000	0.85682	D	0.000000	D	0.87732	0.6251	H	0.96604	3.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91493	0.5213	9	0.87932	D	0	-26.4156	14.3967	0.67015	0.0:0.0:0.0:1.0	.	524	Q13435	SF3B2_HUMAN	R	507;524;428	.	ENSP00000318861:L524R	L	+	2	0	SF3B2	65583998	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.587000	0.82613	2.284000	0.76573	0.528000	0.53228	CTG		0.622	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391352.2		
RBM4	5936	broad.mit.edu	37	11	66407541	66407541	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:66407541G>A	ENST00000409406.1	+	1	1136	c.359G>A	c.(358-360)cGg>cAg	p.R120Q	RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000532968.1_Missense_Mutation_p.R120Q|RBM4_ENST00000514361.3_Intron|RBM4_ENST00000310092.7_Missense_Mutation_p.R120Q|RBM4_ENST00000506523.2_Missense_Mutation_p.R120Q|RBM4_ENST00000483858.1_Missense_Mutation_p.R120Q|RBM4_ENST00000408993.2_Missense_Mutation_p.R120Q|RBM14-RBM4_ENST00000412278.2_Intron|RBM4_ENST00000398692.4_Missense_Mutation_p.R120Q|RBM4_ENST00000396053.4_Missense_Mutation_p.R120Q|RBM4_ENST00000578778.1_Missense_Mutation_p.R120Q|RBM4_ENST00000503028.2_Missense_Mutation_p.R120Q|RBM4_ENST00000530235.1_Missense_Mutation_p.R120Q			Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	120	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cap-independent translational initiation (GO:0002190)|cell differentiation (GO:0030154)|circadian regulation of translation (GO:0097167)|entrainment of circadian clock by photoperiod (GO:0043153)|IRES-dependent translational initiation (GO:0002192)|mRNA processing (GO:0006397)|negative regulation of translation (GO:0017148)|negative regulation of translation in response to stress (GO:0032055)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of nucleocytoplasmic transport (GO:0046822)|response to arsenic-containing substance (GO:0046685)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|stress-activated MAPK cascade (GO:0051403)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	miRNA binding (GO:0035198)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|pre-mRNA intronic pyrimidine-rich binding (GO:0097158)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.R120Q(1)		endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		CACATGGAGCGGGCAGAGGAT	0.527																																					p.R120Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G359A	11						.						112.0	101.0	105.0					11																	66407541		2200	4295	6495	66164117	SO:0001583	missense	5936	exon2			U89505	CCDS41676.1, CCDS55776.1, CCDS55777.1	11q13	2013-02-12			ENSG00000173933	ENSG00000173933		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	9901	protein-coding gene	gene with protein product		602571				9169144, 16260624	Standard	NM_002896		Approved	LARK, RBM4A, ZCRB3A, ZCCHC21		Q9BWF3	OTTHUMG00000154171	ENST00000409406.1:c.359G>A	11.37:g.66407541G>A	ENSP00000386894:p.Arg120Gln		66164117	NM_001198843	B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	Missense_Mutation	SNP	ENST00000409406.1	37	CCDS41676.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.827781	0.71143	.	.	ENSG00000248643;ENSG00000248643;ENSG00000173933;ENSG00000173933;ENSG00000173933;ENSG00000173933;ENSG00000173933;ENSG00000173933;ENSG00000173933;ENSG00000173933;ENSG00000173933;ENSG00000173933	ENST00000503028;ENST00000514361;ENST00000310092;ENST00000396053;ENST00000408993;ENST00000483858;ENST00000398692;ENST00000510173;ENST00000506523;ENST00000530235;ENST00000532968;ENST00000409406	T;T;T;T;T;T;T;T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84	4.95	4.04	0.47022	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	U	0.000001	T	0.67135	0.2861	.	.	.	0.50171	D	0.999856	B;B;B;B	0.30584	0.178;0.214;0.211;0.286	B;B;B;B	0.31101	0.059;0.056;0.124;0.062	T	0.67534	-0.5646	9	0.56958	D	0.05	-3.7913	11.4253	0.50007	0.0884:0.0:0.9116:0.0	.	120;120;120;120	E7EQS3;Q9BWF3-3;Q9BWF3;Q9BWF3-2	.;.;RBM4_HUMAN;.	Q	120	ENSP00000425760:R120Q;ENSP00000309166:R120Q;ENSP00000413497:R120Q;ENSP00000386561:R120Q;ENSP00000435821:R120Q;ENSP00000381680:R120Q;ENSP00000422301:R120Q;ENSP00000423572:R120Q;ENSP00000432150:R120Q;ENSP00000432020:R120Q;ENSP00000386894:R120Q	ENSP00000425760:R120Q	R	+	2	0	RBM4;RBM14-RBM4	66164117	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.637000	0.74304	1.248000	0.43934	0.650000	0.86243	CGG		0.527	RBM4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334212.1	NM_002896	
KDM2A	22992	broad.mit.edu	37	11	67021751	67021751	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:67021751C>T	ENST00000529006.2	+	20	3615	c.3169C>T	c.(3169-3171)Cgc>Tgc	p.R1057C	KDM2A_ENST00000308783.5_Missense_Mutation_p.R515C|KDM2A_ENST00000398645.2_3'UTR|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000530342.1_Missense_Mutation_p.R618C	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	1057					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.R1057C(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						TGCCACGCTTCGCCTCATAAT	0.567																																					p.R1057C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3169T	11						.						116.0	114.0	115.0					11																	67021751		2188	4276	6464	66778327	SO:0001583	missense	22992	exon20			BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13606	protein-coding gene	gene with protein product	"""F-box protein FBL11"", ""jumonji C domain-containing histone demethylase 1A"""	605657	"""F-box and leucine-rich repeat protein 11"""	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.3169C>T	11.37:g.67021751C>T	ENSP00000432786:p.Arg1057Cys		66778327	NM_012308	D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Missense_Mutation	SNP	ENST00000529006.2	37	CCDS44657.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.693011	0.68271	.	.	ENSG00000173120	ENST00000529006;ENST00000530342;ENST00000308783	T;T;T	0.59502	0.26;0.26;0.26	5.28	5.28	0.74379	.	0.059782	0.64402	D	0.000006	T	0.77412	0.4126	M	0.78637	2.42	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74023	0.982;0.965;0.982	T	0.79022	-0.1973	10	0.62326	D	0.03	-16.1281	19.0976	0.93258	0.0:1.0:0.0:0.0	.	618;515;1057	E9PIL6;D4QA03;Q9Y2K7	.;.;KDM2A_HUMAN	C	1057;618;515	ENSP00000432786:R1057C;ENSP00000435776:R618C;ENSP00000309302:R515C	ENSP00000309302:R515C	R	+	1	0	KDM2A	66778327	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.901000	0.48695	2.745000	0.94114	0.655000	0.94253	CGC		0.567	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	NM_012308	
LRP5	4041	broad.mit.edu	37	11	68154032	68154032	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:68154032G>A	ENST00000294304.7	+	6	1370	c.1264G>A	c.(1264-1266)Gcg>Acg	p.A422T		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	422	Beta-propeller 2.		A -> T (in EVR4; the mutation results in significantly reduced Norrin signal transduction). {ECO:0000269|PubMed:24715757}.		adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.A422T(1)		autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CGATGGCATCGCGGTCGACTG	0.667																																					p.A422T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1264A	11						.						79.0	67.0	71.0					11																	68154032		2200	4293	6493	67910608	SO:0001583	missense	4041	exon6			AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.1264G>A	11.37:g.68154032G>A	ENSP00000294304:p.Ala422Thr		67910608	NM_002335	Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	37	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400056	0.62177	.	.	ENSG00000162337	ENST00000294304	D	0.97620	-4.46	3.85	2.94	0.34122	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.46442	U	0.000300	D	0.97614	0.9218	M	0.62088	1.915	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	D	0.97570	1.0104	10	0.87932	D	0	.	11.6075	0.51041	0.0882:0.0:0.9118:0.0	.	422	O75197	LRP5_HUMAN	T	422	ENSP00000294304:A422T	ENSP00000294304:A422T	A	+	1	0	LRP5	67910608	1.000000	0.71417	0.436000	0.26797	0.177000	0.22998	9.248000	0.95456	0.991000	0.38814	0.455000	0.32223	GCG		0.667	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335	
CPT1A	1374	broad.mit.edu	37	11	68527116	68527116	+	Missense_Mutation	SNP	C	C	T	rs397515544		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:68527116C>T	ENST00000265641.5	-	18	2310	c.2156G>A	c.(2155-2157)gGc>gAc	p.G719D	CPT1A_ENST00000537756.2_5'Flank|CPT1A_ENST00000376618.2_Missense_Mutation_p.G719D|CPT1A_ENST00000539743.1_Missense_Mutation_p.G719D|CPT1A_ENST00000540367.1_Missense_Mutation_p.G719D	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	719					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)	p.G719D(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	CACACCATAGCCGTCATCAGC	0.438																																					p.G719D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2156A	11						.						84.0	82.0	83.0					11																	68527116		2200	4294	6494	68283692	SO:0001583	missense	1374	exon18			L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.2156G>A	11.37:g.68527116C>T	ENSP00000265641:p.Gly719Asp		68283692	NM_001031847	Q8TCU0|Q9BWK0	Missense_Mutation	SNP	ENST00000265641.5	37	CCDS8185.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.362829	0.61403	.	.	ENSG00000110090	ENST00000540367;ENST00000376618;ENST00000265641;ENST00000538308;ENST00000539743	D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	D	0.97848	0.9293	H	0.98507	4.25	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.989;0.999	D	0.99289	1.0898	10	0.87932	D	0	.	18.3023	0.90168	0.0:1.0:0.0:0.0	.	719;719	P50416;P50416-2	CPT1A_HUMAN;.	D	719	ENSP00000439084:G719D;ENSP00000365803:G719D;ENSP00000265641:G719D;ENSP00000446108:G719D	ENSP00000265641:G719D	G	-	2	0	CPT1A	68283692	1.000000	0.71417	0.571000	0.28486	0.113000	0.19764	7.258000	0.78371	2.640000	0.89533	0.561000	0.74099	GGC		0.438	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2	NM_001876	
NADSYN1	55191	broad.mit.edu	37	11	71193987	71193987	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:71193987A>G	ENST00000319023.2	+	14	1431	c.1243A>G	c.(1243-1245)Acc>Gcc	p.T415A	NADSYN1_ENST00000526039.2_3'UTR|NADSYN1_ENST00000530055.1_Missense_Mutation_p.T44A|NADSYN1_ENST00000539574.1_Missense_Mutation_p.T155A	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	415	Ligase. {ECO:0000250}.				NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)	p.T415A(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	CATACTGACCACCTGCTACAT	0.582																																					p.T415A	Ovarian(79;763 1781 6490 50276)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1243G	11						.						126.0	103.0	111.0					11																	71193987		2200	4294	6494	70871635	SO:0001583	missense	55191	exon14			AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.1243A>G	11.37:g.71193987A>G	ENSP00000326424:p.Thr415Ala		70871635	NM_018161	B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Missense_Mutation	SNP	ENST00000319023.2	37	CCDS8201.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.403535	0.83230	.	.	ENSG00000172890	ENST00000319023;ENST00000539574;ENST00000529840;ENST00000530055	T;T;T;T	0.34472	1.36;1.36;1.36;1.36	4.06	4.06	0.47325	NAD/GMP synthase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.071927	0.53938	D	0.000048	T	0.51601	0.1684	L	0.59967	1.855	0.58432	D	0.999997	D;D	0.67145	0.977;0.996	D;D	0.71656	0.951;0.974	T	0.48399	-0.9039	10	0.37606	T	0.19	-36.3123	11.2716	0.49142	1.0:0.0:0.0:0.0	.	155;415	B3KUU4;Q6IA69	.;NADE_HUMAN	A	415;155;44;44	ENSP00000326424:T415A;ENSP00000443718:T155A;ENSP00000437172:T44A;ENSP00000431820:T44A	ENSP00000326424:T415A	T	+	1	0	NADSYN1	70871635	1.000000	0.71417	0.997000	0.53966	0.965000	0.64279	7.646000	0.83445	1.613000	0.50231	0.459000	0.35465	ACC		0.582	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394356.1	NM_018161	
KRTAP5-10	387273	broad.mit.edu	37	11	71277218	71277218	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:71277218C>T	ENST00000398531.1	+	1	610	c.585C>T	c.(583-585)ccC>ccT	p.P195P	KRTAP5-10_ENST00000376536.4_Splice_Site_p.P147P	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	195	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.P195P(1)		endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						gctgTGTCCCCGTGTGCTGCC	0.542																																					p.P195P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C585T	11						.						99.0	102.0	101.0					11																	71277218		2200	4293	6493	70954866	SO:0001819	synonymous_variant	387273	exon1			AB126079	CCDS41684.1	11q13.4	2008-02-05			ENSG00000204572	ENSG00000204572		"""Keratin associated proteins"""	23605	protein-coding gene	gene with protein product						15144888	Standard	NM_001012710		Approved	KRTAP5.10	uc001oqt.1	Q6L8G5	OTTHUMG00000057585	ENST00000398531.1:c.585C>T	11.37:g.71277218C>T			70954866	NM_001012710	B9EHA4	Silent	SNP	ENST00000398531.1	37	CCDS41684.1																																																																																				0.542	KRTAP5-10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000127968.2		
ARAP1	116985	broad.mit.edu	37	11	72437820	72437820	+	Silent	SNP	C	C	T	rs540846147	byFrequency	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:72437820C>T	ENST00000393609.3	-	3	556	c.354G>A	c.(352-354)ccG>ccA	p.P118P	ARAP1_ENST00000455638.2_Silent_p.P118P|ARAP1_ENST00000359373.5_Silent_p.P118P	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	118					actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.P118P(1)		cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TCCTCCGGGGCGGGATGGGTG	0.692													C|||	3	0.000599042	0.0	0.0	5008	,	,		8139	0.0		0.0	False		,,,				2504	0.0031				p.P118P	Ovarian(102;1198 1520 13195 17913 37529)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G354A	11						.						6.0	8.0	7.0					11																	72437820		1757	3790	5547	72115468	SO:0001819	synonymous_variant	116985	exon3			AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16925	protein-coding gene	gene with protein product		606646	"""centaurin, delta 2"""	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.354G>A	11.37:g.72437820C>T			72115468	NM_001040118	A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Silent	SNP	ENST00000393609.3	37	CCDS41687.1																																																																																				0.692	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118	
CHRDL2	25884	broad.mit.edu	37	11	74429834	74429834	+	Silent	SNP	G	G	A	rs151148265	byFrequency	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:74429834G>A	ENST00000376332.3	-	2	622	c.126C>T	c.(124-126)ccC>ccT	p.P42P	SNORD43_ENST00000390975.1_RNA|CHRDL2_ENST00000534159.1_5'UTR|CHRDL2_ENST00000263671.5_Silent_p.P42P|MIR4696_ENST00000581431.1_RNA	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	42	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cartilage development (GO:0051216)|cell differentiation (GO:0030154)|ossification (GO:0001503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)		p.P42P(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					AGCTCTCGCCGGGGGAGTATC	0.597																																					p.P42P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C126T	11						.	G		2,4398	4.2+/-10.8	0,2,2198	75.0	60.0	65.0		126	-8.7	0.5	11	dbSNP_134	65	0,8586		0,0,4293	no	coding-synonymous	CHRDL2	NM_015424.3		0,2,6491	AA,AG,GG		0.0,0.0455,0.0154		42/452	74429834	2,12984	2200	4293	6493	74107482	SO:0001819	synonymous_variant	25884	exon2			AL110168	CCDS8234.1, CCDS60893.1	11q13.4	2013-09-20			ENSG00000054938	ENSG00000054938			24168	protein-coding gene	gene with protein product		613127				12853144, 12975309	Standard	NM_015424		Approved	BNF1	uc001ovh.3	Q6WN34	OTTHUMG00000165623	ENST00000376332.3:c.126C>T	11.37:g.74429834G>A			74107482	NM_015424	A5PKU9|Q6WN30|Q6WN31|Q6WN32|Q7Z5J3	Silent	SNP	ENST00000376332.3	37																																																																																					0.597	CHRDL2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000385391.1		
MAP6	4135	broad.mit.edu	37	11	75299152	75299152	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:75299152G>T	ENST00000304771.3	-	4	2144	c.1394C>A	c.(1393-1395)tCt>tAt	p.S465Y	MAP6_ENST00000526740.1_Missense_Mutation_p.S136Y|CTD-2530H12.4_ENST00000527803.1_RNA|MAP6_ENST00000526689.1_5'UTR	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	465					dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|microtubule cytoskeleton organization (GO:0000226)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)		p.S465Y(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					TGGGACCACAGAACCTTGATC	0.542																																					p.S465Y	Esophageal Squamous(181;1115 2007 8647 17065 22697)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1394A	11						.						97.0	96.0	96.0					11																	75299152		2200	4293	6493	74976800	SO:0001583	missense	4135	exon4			AK123340	CCDS31641.1, CCDS44686.1	11q13.5	2005-10-11			ENSG00000171533	ENSG00000171533			6868	protein-coding gene	gene with protein product		601783				10516426, 12231625	Standard	NM_207577		Approved	KIAA1878, STOP, FLJ41346	uc001owu.3	Q96JE9	OTTHUMG00000165343	ENST00000304771.3:c.1394C>A	11.37:g.75299152G>T	ENSP00000307093:p.Ser465Tyr		74976800	NM_033063	A7E2A1|Q6P3T0|Q6ZWB8	Missense_Mutation	SNP	ENST00000304771.3	37	CCDS31641.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.584029	0.46110	.	.	ENSG00000171533	ENST00000304771;ENST00000526740;ENST00000545476	T	0.48836	0.8	5.84	3.93	0.45458	.	0.697045	0.13177	N	0.407801	T	0.33933	0.0880	L	0.42245	1.32	0.20307	N	0.999911	P	0.45283	0.855	B	0.31751	0.135	T	0.18777	-1.0326	10	0.66056	D	0.02	0.0077	8.431	0.32757	0.1856:0.0:0.8144:0.0	.	465	Q96JE9	MAP6_HUMAN	Y	465;136;136	ENSP00000307093:S465Y	ENSP00000307093:S465Y	S	-	2	0	MAP6	74976800	0.112000	0.22096	0.029000	0.17559	0.974000	0.67602	1.985000	0.40668	0.777000	0.33496	0.655000	0.94253	TCT		0.542	MAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383527.1	NM_033063	
MYO7A	4647	broad.mit.edu	37	11	76916566	76916566	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:76916566G>A	ENST00000409709.3	+	40	5812	c.5540G>A	c.(5539-5541)aGc>aAc	p.S1847N	MYO7A_ENST00000605744.1_Intron|MYO7A_ENST00000409619.2_Missense_Mutation_p.S1798N|MYO7A_ENST00000458637.2_Missense_Mutation_p.S1809N	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1847	MyTH4 2. {ECO:0000255|PROSITE- ProRule:PRU00359}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)	p.S1847N(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TTCCCACCCAGCAACATCCTC	0.657																																					p.S1847N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5540A	11						.						29.0	36.0	34.0					11																	76916566		2134	4242	6376	76594214	SO:0001583	missense	4647	exon40			U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.5540G>A	11.37:g.76916566G>A	ENSP00000386331:p.Ser1847Asn		76594214	NM_000260	B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.970815	0.92919	.	.	ENSG00000137474	ENST00000409709;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000458169;ENST00000544424	D;D;D;D	0.96232	-3.95;-3.95;-3.95;-3.95	4.87	4.87	0.63330	MyTH4 domain (3);	0.085098	0.85682	D	0.000000	D	0.98242	0.9418	M	0.85777	2.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	D	0.99525	1.0959	10	0.87932	D	0	.	18.0131	0.89230	0.0:0.0:1.0:0.0	.	1809;1847	F8VUN5;Q13402	.;MYO7A_HUMAN	N	1847;1809;1798;1020;1846;1816;1723;989;462	ENSP00000386331:S1847N;ENSP00000392185:S1809N;ENSP00000386635:S1798N;ENSP00000417017:S989N	ENSP00000345075:S1723N	S	+	2	0	MYO7A	76594214	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.435000	0.97529	2.260000	0.74910	0.561000	0.74099	AGC		0.657	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260	
DLG2	1740	broad.mit.edu	37	11	83809987	83809987	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:83809987G>A	ENST00000532653.1	-	5	715	c.413C>T	c.(412-414)gCa>gTa	p.A138V	DLG2_ENST00000280241.8_Missense_Mutation_p.A177V|DLG2_ENST00000543673.1_Missense_Mutation_p.A243V|DLG2_ENST00000537455.1_5'UTR|DLG2_ENST00000398301.2_Missense_Mutation_p.A177V|DLG2_ENST00000398309.2_Missense_Mutation_p.A138V|DLG2_ENST00000330014.6_Missense_Mutation_p.A77V|DLG2_ENST00000524982.1_Missense_Mutation_p.A138V|DLG2_ENST00000376104.2_Missense_Mutation_p.A243V|DLG2_ENST00000418306.2_Missense_Mutation_p.A87V|DLG2_ENST00000531015.1_Missense_Mutation_p.A105V|DLG2_ENST00000376106.3_5'UTR			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0	L27 2. {ECO:0000255|PROSITE- ProRule:PRU00365}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)	p.A138V(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				ATCCTCTGCTGCAGCACCTCC	0.418																																					p.A87V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C260T	11						.						58.0	54.0	55.0					11																	83809987		1951	4143	6094	83487635	SO:0001583	missense	1740	exon3			U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.413C>T	11.37:g.83809987G>A	ENSP00000435849:p.Ala138Val		83487635	NM_001142700	B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000532653.1	37		.	.	.	.	.	.	.	.	.	.	G	36	5.727793	0.96847	.	.	ENSG00000150672	ENST00000398309;ENST00000376104;ENST00000418306;ENST00000543673;ENST00000280241;ENST00000330014;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000531015;ENST00000398301;ENST00000398299	T;T;T;T;T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.39	5.39	0.77823	PDZ/DHR/GLGF (4);	0.000000	0.64402	D	0.000004	T	0.72622	0.3483	M	0.89715	3.055	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;0.999;1.0;0.999	D;D;D;D;D;D;D;D	0.97110	0.965;0.989;0.995;0.979;1.0;0.909;0.99;0.941	T	0.77456	-0.2581	9	.	.	.	.	19.5146	0.95157	0.0:0.0:1.0:0.0	.	105;138;138;77;177;243;138;87	E9PIW2;B7Z2T4;E9PN83;B7Z264;Q6ZSU2;Q15700-2;Q15700;Q15700-3	.;.;.;.;.;.;DLG2_HUMAN;.	V	138;243;87;243;177;77;138;138;243;105;177;55	ENSP00000381355:A138V;ENSP00000365272:A243V;ENSP00000402275:A87V;ENSP00000441994:A243V;ENSP00000280241:A177V;ENSP00000381353:A77V;ENSP00000432894:A138V;ENSP00000435849:A138V;ENSP00000433848:A105V;ENSP00000381346:A177V;ENSP00000381344:A55V	.	A	-	2	0	DLG2	83487635	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.420000	0.97426	2.690000	0.91761	0.655000	0.94253	GCA		0.418	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364	
PICALM	8301	broad.mit.edu	37	11	85725936	85725936	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:85725936T>C	ENST00000393346.3	-	5	671	c.523A>G	c.(523-525)Atg>Gtg	p.M175V	PICALM_ENST00000356360.5_Missense_Mutation_p.M175V|PICALM_ENST00000526033.1_Missense_Mutation_p.M175V|PICALM_ENST00000532317.1_Missense_Mutation_p.M175V|PICALM_ENST00000528398.1_Missense_Mutation_p.M124V			Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	175					axonogenesis (GO:0007409)|cargo loading into vesicle (GO:0035459)|cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|hemopoiesis (GO:0030097)|iron ion homeostasis (GO:0055072)|iron ion import into cell (GO:0097459)|negative regulation of gene expression (GO:0010629)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of receptor-mediated endocytosis (GO:0048261)|positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902961)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902959)|regulation of endocytosis (GO:0030100)|regulation of protein localization (GO:0032880)|synaptic vesicle maturation (GO:0016188)|vesicle-mediated transport (GO:0016192)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neurofibrillary tangle (GO:0097418)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|vesicle (GO:0031982)	1-phosphatidylinositol binding (GO:0005545)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|clathrin heavy chain binding (GO:0032050)	p.M175V(1)		endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				AGTGCATCCATCTGATTCTGA	0.284			T	"""MLLT10, MLL"""	"""TALL, AML, """																																p.M175V			Dom	yes		11	11q14	8301	phosphatidylinositol binding clathrin assembly protein (CALM)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A523G	11						.						138.0	130.0	132.0					11																	85725936		2200	4295	6495	85403584	SO:0001583	missense	8301	exon5			BC048259	CCDS8272.1, CCDS31653.1, CCDS55783.1, CCDS55784.1	11q14	2008-02-01			ENSG00000073921	ENSG00000073921			15514	protein-coding gene	gene with protein product		603025				8643484	Standard	NM_001206947		Approved	CALM, CLTH	uc001pbm.3	Q13492	OTTHUMG00000166981	ENST00000393346.3:c.523A>G	11.37:g.85725936T>C	ENSP00000377015:p.Met175Val		85403584	NM_007166	B4DTM3|E9PN05|F8VPG7|O60700|Q4LE54|Q6GMQ6|Q86XZ9	Missense_Mutation	SNP	ENST00000393346.3	37	CCDS8272.1	.	.	.	.	.	.	.	.	.	.	T	12.05	1.821538	0.32237	.	.	ENSG00000073921	ENST00000532317;ENST00000526033;ENST00000447890;ENST00000393346;ENST00000528398;ENST00000356360;ENST00000531930;ENST00000525162;ENST00000528256	T;T;T;T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91;1.91;1.91;1.91	4.98	4.98	0.66077	ANTH (1);Clathrin adaptor, phosphoinositide-binding, GAT-like (1);	0.037817	0.85682	D	0.000000	T	0.23611	0.0571	N	0.02202	-0.64	0.58432	D	0.999994	D;P;B;B	0.56968	0.978;0.659;0.156;0.265	D;B;B;B	0.67548	0.952;0.154;0.133;0.094	T	0.40421	-0.9564	9	.	.	.	-9.6854	14.9913	0.71390	0.0:0.0:0.0:1.0	.	124;175;175;175	E9PN05;F8VPG7;Q13492;Q13492-3	.;.;PICAL_HUMAN;.	V	175;175;175;175;124;175;141;124;141	ENSP00000436958:M175V;ENSP00000433846:M175V;ENSP00000377015:M175V;ENSP00000434884:M124V;ENSP00000348718:M175V;ENSP00000433303:M141V;ENSP00000436508:M124V;ENSP00000431545:M141V	.	M	-	1	0	PICALM	85403584	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	6.145000	0.71769	1.994000	0.58287	0.477000	0.44152	ATG		0.284	PICALM-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392224.1	NM_007166	
CTSC	1075	broad.mit.edu	37	11	88068176	88068176	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:88068176G>T	ENST00000227266.5	-	2	361	c.247C>A	c.(247-249)Cat>Aat	p.H83N	CTSC_ENST00000393301.4_5'UTR|CTSC_ENST00000529974.1_Missense_Mutation_p.H83N|CTSC_ENST00000524463.1_Missense_Mutation_p.H83N	NM_001814.4	NP_001805	P53634	CATC_HUMAN	cathepsin C	83					aging (GO:0007568)|immune response (GO:0006955)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of proteolysis involved in cellular protein catabolic process (GO:1903052)|proteolysis (GO:0006508)|response to organic substance (GO:0010033)|T cell mediated cytotoxicity (GO:0001913)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	chaperone binding (GO:0051087)|chloride ion binding (GO:0031404)|cysteine-type peptidase activity (GO:0008234)|peptidase activator activity involved in apoptotic process (GO:0016505)|phosphatase binding (GO:0019902)|serine-type endopeptidase activity (GO:0004252)	p.H83N(1)		large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ATGGTGAAATGGCCAGAATTG	0.358																																					p.H83N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C247A	11						.						133.0	124.0	127.0					11																	88068176		2201	4299	6500	87707824	SO:0001583	missense	1075	exon2			AK223038	CCDS8282.1, CCDS31654.1, CCDS44693.1	11q14.2	2014-09-17			ENSG00000109861	ENSG00000109861	3.4.14.1	"""Cathepsins"""	2528	protein-coding gene	gene with protein product	"""dipeptidyl peptidase 1"""	602365		PLS, PALS		7649281, 9092576	Standard	NM_148170		Approved	DPP1	uc001pck.4	P53634	OTTHUMG00000167290	ENST00000227266.5:c.247C>A	11.37:g.88068176G>T	ENSP00000227266:p.His83Asn		87707824	NM_001114173	A8K7V2|B5MDD5|Q2HIY8|Q53G93|Q71E75|Q71E76|Q7M4N9|Q7Z3G7|Q7Z5U7|Q8WY99|Q8WYA7|Q8WYA8	Missense_Mutation	SNP	ENST00000227266.5	37	CCDS8282.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.202301	0.38905	.	.	ENSG00000109861	ENST00000393302;ENST00000227266;ENST00000524463;ENST00000529974	D;D;D	0.88277	-2.36;-2.36;-2.36	5.84	1.11	0.20524	Cathepsin C exclusion (1);	0.369593	0.33180	N	0.005185	D	0.83381	0.5242	L	0.46157	1.445	0.30604	N	0.760192	P;P;B	0.36753	0.514;0.568;0.105	B;B;B	0.43082	0.407;0.146;0.18	T	0.76506	-0.2934	9	.	.	.	.	3.0988	0.06319	0.363:0.0:0.4533:0.1837	.	83;83;83	Q2HIY8;P53634-2;P53634	.;.;CATC_HUMAN	N	66;83;83;83	ENSP00000227266:H83N;ENSP00000432541:H83N;ENSP00000433539:H83N	.	H	-	1	0	CTSC	87707824	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	3.094000	0.50227	0.791000	0.33826	0.655000	0.94253	CAT		0.358	CTSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394019.2	NM_001814	
GRM5	2915	broad.mit.edu	37	11	88241767	88241767	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:88241767G>A	ENST00000305447.4	-	9	3781	c.3632C>T	c.(3631-3633)tCg>tTg	p.S1211L	GRM5_ENST00000393297.1_Missense_Mutation_p.S941L|GRM5-AS1_ENST00000526448.1_RNA|GRM5_ENST00000455756.2_Missense_Mutation_p.S1179L|GRM5_ENST00000418177.2_Missense_Mutation_p.S1211L|GRM5_ENST00000305432.5_Missense_Mutation_p.S1179L	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	1211					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.S1179L(1)		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)	CATTCACAACGACGAGGAGCT	0.577																																					p.S1179L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3536T	11						.						25.0	26.0	26.0					11																	88241767		2201	4299	6500	87881415	SO:0001583	missense	2915	exon9			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.3632C>T	11.37:g.88241767G>A	ENSP00000306138:p.Ser1211Leu		87881415	NM_000842	Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.760866	0.89932	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.91945	-2.78;-2.94;-2.94;-2.78;-2.88	4.92	4.92	0.64577	Metabotropic glutamate receptor, Homer-binding domain (1);	0.154911	0.45867	D	0.000321	D	0.94594	0.8258	L	0.50333	1.59	0.51767	D	0.999937	D;D	0.76494	0.998;0.999	D;D	0.75484	0.925;0.986	D	0.93969	0.7247	9	.	.	.	.	18.1233	0.89578	0.0:0.0:1.0:0.0	.	1179;1211	P41594-2;P41594	.;GRM5_HUMAN	L	1211;1179;1179;1211;941	ENSP00000402912:S1211L;ENSP00000405690:S1179L;ENSP00000305905:S1179L;ENSP00000306138:S1211L;ENSP00000376975:S941L	.	S	-	2	0	GRM5	87881415	1.000000	0.71417	0.996000	0.52242	0.970000	0.65996	9.365000	0.97139	2.252000	0.74401	0.557000	0.71058	TCG		0.577	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842	
SLC36A4	120103	broad.mit.edu	37	11	92887408	92887408	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:92887408C>T	ENST00000326402.4	-	10	1203	c.1073G>A	c.(1072-1074)gGc>gAc	p.G358D	SLC36A4_ENST00000529184.1_Missense_Mutation_p.G223D	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4	358					L-alanine transport (GO:0015808)|proline transport (GO:0015824)|tryptophan transport (GO:0015827)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.G358D(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CACAAAAATGCCAAAGGAATA	0.289																																					p.G358D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1073A	11						.						61.0	65.0	64.0					11																	92887408		2201	4290	6491	92527056	SO:0001583	missense	120103	exon10			AY162216	CCDS8291.1, CCDS66202.1	11q21	2013-05-22			ENSG00000180773	ENSG00000180773		"""Solute carriers"""	19660	protein-coding gene	gene with protein product		613760					Standard	XM_005273758		Approved	PAT4, FLJ38932	uc001pdn.3	Q6YBV0	OTTHUMG00000167368	ENST00000326402.4:c.1073G>A	11.37:g.92887408C>T	ENSP00000317382:p.Gly358Asp		92527056	NM_152313	Q86X30|Q8IVM5|Q8N8S6	Missense_Mutation	SNP	ENST00000326402.4	37	CCDS8291.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.051371	0.75960	.	.	ENSG00000180773	ENST00000326402;ENST00000529184;ENST00000534116	T;T;T	0.02280	4.36;4.36;4.36	5.8	4.88	0.63580	.	0.116084	0.56097	D	0.000023	T	0.13970	0.0338	M	0.85777	2.775	0.51012	D	0.999901	D	0.56287	0.975	D	0.64237	0.923	T	0.01081	-1.1458	10	0.56958	D	0.05	-8.4032	16.9541	0.86253	0.0:0.8723:0.1277:0.0	.	358	Q6YBV0	S36A4_HUMAN	D	358;223;252	ENSP00000317382:G358D;ENSP00000436570:G223D;ENSP00000432061:G252D	ENSP00000317382:G358D	G	-	2	0	SLC36A4	92527056	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.644000	0.74338	1.446000	0.47643	0.655000	0.94253	GGC		0.289	SLC36A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394329.2		
KDM4D	55693	broad.mit.edu	37	11	94731548	94731548	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:94731548C>T	ENST00000335080.5	+	3	1844	c.1012C>T	c.(1012-1014)Cgt>Tgt	p.R338C	KDM4D_ENST00000536741.1_Missense_Mutation_p.R338C	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	338					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.R338C(1)		endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CCTGTGGAAACGTGGGCAAGA	0.587																																					p.R338C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1012T	11						.						76.0	73.0	74.0					11																	94731548		2201	4298	6499	94371196	SO:0001583	missense	55693	exon3			AK001113	CCDS8302.1	11q21	2012-03-28	2009-04-06	2009-04-06	ENSG00000186280	ENSG00000186280		"""Chromatin-modifying enzymes / K-demethylases"""	25498	protein-coding gene	gene with protein product		609766	"""jumonji domain containing 2D"""	JMJD2D		15138608	Standard	NM_018039		Approved	FLJ10251	uc001pfe.3	Q6B0I6	OTTHUMG00000167838	ENST00000335080.5:c.1012C>T	11.37:g.94731548C>T	ENSP00000334181:p.Arg338Cys		94371196	NM_018039	B3KPC4|Q0VF39|Q9NT41|Q9NW76	Missense_Mutation	SNP	ENST00000335080.5	37	CCDS8302.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.224138	0.39300	.	.	ENSG00000186280	ENST00000335080	T	0.30448	1.53	3.73	1.83	0.25207	.	0.287946	0.29551	U	0.011836	T	0.20536	0.0494	L	0.39245	1.2	0.09310	N	0.999998	B	0.14805	0.011	B	0.06405	0.002	T	0.17198	-1.0377	10	0.59425	D	0.04	-2.8192	4.2249	0.10575	0.0:0.5957:0.1904:0.2138	.	338	Q6B0I6	KDM4D_HUMAN	C	338	ENSP00000334181:R338C	ENSP00000334181:R338C	R	+	1	0	KDM4D	94371196	0.009000	0.17119	0.044000	0.18714	0.704000	0.40688	0.361000	0.20267	0.551000	0.29008	0.462000	0.41574	CGT		0.587	KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396558.2	NM_018039	
ATM	472	broad.mit.edu	37	11	108175414	108175414	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:108175414delT	ENST00000452508.2	+	38	5698	c.5509delT	c.(5509-5511)tttfs	p.F1837fs	ATM_ENST00000278616.4_Frame_Shift_Del_p.F1837fs			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1837					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.C1838fs*8(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GAAAACTGACTTTTGTCAGAC	0.308			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																											p.F1837fs		yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.5509delT	11						.						73.0	71.0	71.0					11																	108175414		2201	4298	6499	107680624	SO:0001589	frameshift_variant	472	exon37	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.5509delT	11.37:g.108175414delT	ENSP00000388058:p.Phe1837fs		107680624	NM_000051	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Frame_Shift_Del	DEL	ENST00000452508.2	37	CCDS31669.1																																																																																				0.308	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	
B3GAT1	27087	broad.mit.edu	37	11	134253791	134253791	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr11:134253791C>T	ENST00000524765.1	-	3	4948	c.404G>A	c.(403-405)cGc>cAc	p.R135H	B3GAT1_ENST00000392580.1_Missense_Mutation_p.R135H|B3GAT1_ENST00000531510.1_5'Flank|B3GAT1_ENST00000537389.1_Missense_Mutation_p.R148H|B3GAT1_ENST00000312527.4_Missense_Mutation_p.R135H			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	135					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)	p.R135H(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		GCCGGTGTCGCGCAGCAGGCG	0.716																																					p.R135H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G404A	11						.						27.0	26.0	26.0					11																	134253791		2172	4212	6384	133759001	SO:0001583	missense	27087	exon3			AB029396	CCDS8500.1	11q25	2014-07-08	2014-07-08		ENSG00000109956	ENSG00000109956	2.4.1.135	"""CD molecules"", ""Beta-1,3-glucuronyltransferases"""	921	protein-coding gene	gene with protein product	"""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1"", ""glucuronosyltransferase P"""	151290	"""CD57 antigen"""	CD57, LEU7			Standard	XM_005271506		Approved	GlcAT-P, HNK-1, NK-1	uc001qhq.3	Q9P2W7	OTTHUMG00000167180	ENST00000524765.1:c.404G>A	11.37:g.134253791C>T	ENSP00000433847:p.Arg135His		133759001	NM_054025	Q96FS7	Missense_Mutation	SNP	ENST00000524765.1	37	CCDS8500.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.908465	0.72868	.	.	ENSG00000109956	ENST00000392580;ENST00000312527;ENST00000524765;ENST00000537389	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	5.39	5.39	0.77823	.	0.051323	0.85682	D	0.000000	T	0.46151	0.1378	M	0.64630	1.985	0.58432	D	0.999997	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.43734	-0.9373	10	0.59425	D	0.04	-24.3617	12.4975	0.55937	0.0:0.9236:0.0:0.0764	.	148;135	F5H0S0;Q9P2W7	.;B3GA1_HUMAN	H	135;135;135;148	ENSP00000376359:R135H;ENSP00000307875:R135H;ENSP00000433847:R135H;ENSP00000445983:R148H	ENSP00000307875:R135H	R	-	2	0	B3GAT1	133759001	0.257000	0.24022	0.999000	0.59377	0.987000	0.75469	0.919000	0.28692	2.541000	0.85698	0.561000	0.74099	CGC		0.716	B3GAT1-002	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393639.1	NM_018644	
NCOR2	9612	broad.mit.edu	37	12	124887099	124887100	+	In_Frame_Ins	INS	-	-	TGTTGC			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr12:124887099_124887100insTGTTGC	ENST00000405201.1	-	14	1490_1491	c.1490_1491insGCAACA	c.(1489-1491)caa>caGCAACAa	p.497_497Q>QQQ	NCOR2_ENST00000404621.1_In_Frame_Ins_p.496_496Q>QQQ|NCOR2_ENST00000404121.2_In_Frame_Ins_p.67_67Q>QQQ|NCOR2_ENST00000429285.2_In_Frame_Ins_p.496_496Q>QQQ|NCOR2_ENST00000356219.3_In_Frame_Ins_p.497_497Q>QQQ|NCOR2_ENST00000397355.1_In_Frame_Ins_p.497_497Q>QQQ			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	497	Poly-Gln.				cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)	p.Q510_P511insQQ(2)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		gctgctgttgttgctgctgctg	0.624																																					p.Q497delinsQQQ												.	.	2	Insertion - In frame(2)	large_intestine(2)	c.1491_1492insGCAACA	12						.																																			123453053	SO:0001652	inframe_insertion	9612	exon16			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.1490_1491insGCAACA	12.37:g.124887099_124887100insTGTTGC	ENSP00000384018:p.GlnGln509dup		123453052	NM_001077261	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	In_Frame_Ins	INS	ENST00000405201.1	37	CCDS41858.2																																																																																				0.624	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312	
EPS8	2059	broad.mit.edu	37	12	15835908	15835909	+	Splice_Site	INS	-	-	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr12:15835908_15835909insA	ENST00000281172.5	-	2	416		c.e2-2		EPS8_ENST00000543612.1_Splice_Site|EPS8_ENST00000543523.1_Splice_Site	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8						actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		TTGTGTGTTCTAAAAAAAGAAA	0.317																																					.												.	.	0			.	12						.																																			15727176	SO:0001630	splice_region_variant	2059	.			U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.21-2->T	12.37:g.15835915_15835915dupA			15727175	.	A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Splice_Site	INS	ENST00000281172.5	37	CCDS31753.1																																																																																				0.317	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401093.1		Intron
DRAM1	55332	broad.mit.edu	37	12	102302086	102302086	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr12:102302086G>A	ENST00000258534.8	+	4	904	c.465G>A	c.(463-465)tcG>tcA	p.S155S	DRAM1_ENST00000544152.1_Intron	NM_018370.2	NP_060840.2	Q8N682	DRAM1_HUMAN	DNA-damage regulated autophagy modulator 1	155					apoptotic process (GO:0006915)|autophagy (GO:0006914)|regulation of autophagy (GO:0010506)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)		p.S49S(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12						ACAGTCTCTCGACATGCCACA	0.483																																					p.S155S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G465A	12						.						179.0	176.0	177.0					12																	102302086		2063	4209	6272	100826217	SO:0001819	synonymous_variant	55332	exon4			BC018435, DA721965	CCDS41823.1	12q23.2	2014-02-12	2009-06-12		ENSG00000136048	ENSG00000136048			25645	protein-coding gene	gene with protein product	"""damage-regulated autophagy modulator"""	610776				16839881	Standard	NM_018370		Approved	FLJ11259, DRAM	uc001tix.3	Q8N682		ENST00000258534.8:c.465G>A	12.37:g.102302086G>A			100826217	NM_018370	B7Z4T0|Q7L3E3|Q9NUN1	Silent	SNP	ENST00000258534.8	37	CCDS41823.1																																																																																				0.483	DRAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409195.1	NM_018370	
NUP37	79023	broad.mit.edu	37	12	102494810	102494810	+	Splice_Site	SNP	C	C	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr12:102494810C>A	ENST00000552283.1	-	4	493	c.354G>T	c.(352-354)aaG>aaT	p.K118N	NUP37_ENST00000251074.1_Splice_Site_p.K118N|NUP37_ENST00000543021.1_5'UTR			Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	118					carbohydrate metabolic process (GO:0005975)|chromosome segregation (GO:0007059)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)		p.K118N(1)		endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						GTCAACATACCTTATATTCAT	0.254																																					p.K118N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G354T	12						.						29.0	33.0	31.0					12																	102494810		2190	4290	6480	101018940	SO:0001630	splice_region_variant	79023	exon3			AF514994	CCDS9089.1	12q23.2	2014-08-12			ENSG00000075188	ENSG00000075188		"""WD repeat domain containing"""	29929	protein-coding gene	gene with protein product		609264				12196509	Standard	NM_024057		Approved	MGC5585, FLJ22618	uc001tjc.3	Q8NFH4	OTTHUMG00000170478	ENST00000552283.1:c.354+1G>T	12.37:g.102494810C>A			101018940	NM_024057	Q9H644	Missense_Mutation	SNP	ENST00000552283.1	37	CCDS9089.1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.775303	0.70107	.	.	ENSG00000075188	ENST00000552283;ENST00000251074;ENST00000551744	T;T;T	0.60797	1.48;1.48;0.16	5.3	3.48	0.39840	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.087483	0.85682	D	0.000000	T	0.52549	0.1741	N	0.25789	0.76	0.80722	D	1	D;P	0.58268	0.982;0.901	P;P	0.54759	0.76;0.475	T	0.44174	-0.9345	9	.	.	.	-15.7762	9.1116	0.36732	0.0:0.8277:0.0:0.1723	.	118;118	B4DKV8;Q8NFH4	.;NUP37_HUMAN	N	118	ENSP00000448054:K118N;ENSP00000251074:K118N;ENSP00000448086:K118N	.	K	-	3	2	NUP37	101018940	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	1.708000	0.37899	0.624000	0.30286	0.591000	0.81541	AAG		0.254	NUP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409330.1	NM_024057	Missense_Mutation
TAS2R19	259294	broad.mit.edu	37	12	11175097	11175097	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr12:11175097C>T	ENST00000390673.2	-	1	122	c.74G>A	c.(73-75)gGc>gAc	p.G25D	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	25					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.G25D(1)		breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						GGCTATGAAGCCATTGGCAAC	0.398																																					p.G25D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G74A	12						.						82.0	77.0	79.0					12																	11175097		2203	4299	6502	11066364	SO:0001583	missense	259294	exon1			AX097730, AF494234	CCDS8640.1	12p13.2	2012-08-22			ENSG00000212124	ENSG00000212124		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19108	protein-coding gene	gene with protein product		613961	"""taste receptor, type 2, member 48"", ""taste receptor, type 2, member 23"""	TAS2R48, TAS2R23			Standard	NM_176888		Approved	T2R19, T2R23	uc010shj.2	P59542	OTTHUMG00000162687	ENST00000390673.2:c.74G>A	12.37:g.11175097C>T	ENSP00000375091:p.Gly25Asp		11066364	NM_176888	Q3MIJ4|Q645X8	Missense_Mutation	SNP	ENST00000390673.2	37	CCDS8640.1	.	.	.	.	.	.	.	.	.	.	.	12.20	1.865743	0.32977	.	.	ENSG00000212124	ENST00000390673	T	0.39056	1.1	2.45	0.391	0.16282	.	0.616361	0.12762	U	0.441312	T	0.69700	0.3140	H	0.96916	3.905	0.22280	N	0.999233	D	0.67145	0.996	D	0.73380	0.98	T	0.56926	-0.7898	10	0.72032	D	0.01	.	4.9693	0.14108	0.0:0.4462:0.4167:0.1371	.	25	P59542	T2R19_HUMAN	D	25	ENSP00000375091:G25D	ENSP00000375091:G25D	G	-	2	0	TAS2R19	11066364	0.001000	0.12720	0.013000	0.15412	0.024000	0.10985	0.246000	0.18160	-0.043000	0.13513	-1.111000	0.02071	GGC		0.398	TAS2R19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370080.1	NM_176888	
BTBD11	121551	broad.mit.edu	37	12	108013764	108013764	+	Splice_Site	SNP	C	C	T	rs546906146	byFrequency	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr12:108013764C>T	ENST00000280758.5	+	11	2982	c.2454C>T	c.(2452-2454)ggC>ggT	p.G818G	RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000490090.2_Splice_Site_p.G818G|BTBD11_ENST00000420571.2_Splice_Site_p.G699G|BTBD11_ENST00000357167.4_Splice_Site_p.G355G	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	818						integral component of membrane (GO:0016021)		p.G818G(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						cCGCTCCAGGCGTCCCGTGGA	0.587													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		17863	0.0		0.0	False		,,,				2504	0.0				p.G355G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1065T	12						.						24.0	23.0	23.0					12																	108013764		2203	4300	6503	106537894	SO:0001630	splice_region_variant	121551	exon9			AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.2453-1C>T	12.37:g.108013764C>T			106537894	NM_001017523	A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Silent	SNP	ENST00000280758.5	37	CCDS31893.1																																																																																				0.587	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322	Silent
HECTD4	283450	broad.mit.edu	37	12	112668562	112668562	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr12:112668562C>T	ENST00000430131.2	-	39	6144	c.4999G>A	c.(4999-5001)Gcc>Acc	p.A1667T	HECTD4_ENST00000550722.1_Missense_Mutation_p.A1943T|HECTD4_ENST00000377560.5_Missense_Mutation_p.A1917T			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1667					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.A1917T(1)									TGTAGCAAGGCGATCACTTCT	0.502																																					p.A1917T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5749A	12						.						97.0	90.0	93.0					12																	112668562		2077	4225	6302	111152945	SO:0001583	missense	283450	exon39			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.4999G>A	12.37:g.112668562C>T	ENSP00000404379:p.Ala1667Thr		111152945	NM_001109662	L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37		.	.	.	.	.	.	.	.	.	.	C	36	5.842171	0.97016	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.58060	0.36;0.37;0.36	5.5	5.5	0.81552	.	.	.	.	.	T	0.59018	0.2163	N	0.14661	0.345	0.58432	D	0.999999	D	0.76494	0.999	D	0.71184	0.972	T	0.66296	-0.5959	9	0.87932	D	0	.	19.4102	0.94670	0.0:1.0:0.0:0.0	.	1667	Q9Y4D8	K0614_HUMAN	T	1917;1667;1943	ENSP00000366783:A1917T;ENSP00000404379:A1667T;ENSP00000449784:A1943T	ENSP00000366783:A1917T	A	-	1	0	C12orf51	111152945	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.461000	0.80834	2.599000	0.87857	0.655000	0.94253	GCC		0.502	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813	
DTX1	1840	broad.mit.edu	37	12	113534527	113534527	+	Missense_Mutation	SNP	G	G	A	rs370481380	byFrequency	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr12:113534527G>A	ENST00000257600.3	+	9	2149	c.1646G>A	c.(1645-1647)cGg>cAg	p.R549Q	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	549					cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R549Q(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CAGGTGCTGCGGCTGCTCATC	0.647													G|||	2	0.000399361	0.0015	0.0	5008	,	,		16565	0.0		0.0	False		,,,				2504	0.0				p.R549Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1646A	12						.	G	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	45.0	30.0	35.0		1646	4.0	0.4	12		35	0,8598		0,0,4299	no	missense	DTX1	NM_004416.2	43	0,2,6500	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging	549/621	113534527	2,13002	2203	4299	6502	112018910	SO:0001583	missense	1840	exon9			AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.1646G>A	12.37:g.113534527G>A	ENSP00000257600:p.Arg549Gln		112018910	NM_004416	O60630|Q9BS04	Missense_Mutation	SNP	ENST00000257600.3	37	CCDS9164.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.700355	0.48307	4.54E-4	0.0	ENSG00000135144	ENST00000257600	T	0.23754	1.89	4.86	3.97	0.46021	.	0.066614	0.64402	D	0.000018	T	0.21631	0.0521	L	0.43923	1.385	0.38129	D	0.938091	B	0.22480	0.07	B	0.23716	0.048	T	0.07462	-1.0771	10	0.45353	T	0.12	1.3252	9.057	0.36412	0.1793:0.0:0.8207:0.0	.	549	Q86Y01	DTX1_HUMAN	Q	549	ENSP00000257600:R549Q	ENSP00000257600:R549Q	R	+	2	0	DTX1	112018910	1.000000	0.71417	0.448000	0.26945	0.967000	0.64934	4.614000	0.61183	1.036000	0.39998	0.462000	0.41574	CGG		0.647	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2		
MED13L	23389	broad.mit.edu	37	12	116424915	116424915	+	Splice_Site	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr12:116424915G>A	ENST00000281928.3	-	18	4319	c.4113C>T	c.(4111-4113)taC>taT	p.Y1371Y		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1371						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.Y1371Y(1)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		AGACCCTACCGTAGGTTCCCC	0.493																																					p.Y1371Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4113T	12						.						107.0	102.0	104.0					12																	116424915		2203	4300	6503	114909298	SO:0001630	splice_region_variant	23389	exon18			AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.4114+1C>T	12.37:g.116424915G>A			114909298	NM_015335	A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Silent	SNP	ENST00000281928.3	37	CCDS9177.1																																																																																				0.493	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3		Silent
RNFT2	84900	broad.mit.edu	37	12	117204655	117204655	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr12:117204655G>A	ENST00000257575.4	+	6	897	c.664G>A	c.(664-666)Gcc>Acc	p.A222T	RNFT2_ENST00000319176.7_Missense_Mutation_p.A222T|RNFT2_ENST00000392549.2_Missense_Mutation_p.A222T|RNFT2_ENST00000407967.3_Missense_Mutation_p.A222T			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2	222						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.A132T(1)		endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		GTGGATCCTGGCCTTTCTGGC	0.507																																					p.A222T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G664A	12						.						156.0	106.0	123.0					12																	117204655		2203	4300	6503	115689038	SO:0001583	missense	84900	exon6			AK027533	CCDS9180.2, CCDS44987.1	12q24.22	2013-01-09	2008-02-26	2008-02-26	ENSG00000135119	ENSG00000135119		"""RING-type (C3HC4) zinc fingers"""	25905	protein-coding gene	gene with protein product			"""transmembrane protein 118"""	TMEM118		12477932	Standard	NM_032814		Approved	FLJ14627	uc009zwn.3	Q96EX2	OTTHUMG00000150882	ENST00000257575.4:c.664G>A	12.37:g.117204655G>A	ENSP00000257575:p.Ala222Thr		115689038	NM_032814	E9PAM7|Q96SU5	Missense_Mutation	SNP	ENST00000257575.4	37	CCDS44987.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.458765	0.63401	.	.	ENSG00000135119	ENST00000257575;ENST00000407967;ENST00000392549;ENST00000319176	T;T	0.45668	0.89;0.89	5.74	5.74	0.90152	.	0.586313	0.19565	N	0.111225	T	0.25791	0.0628	N	0.04508	-0.205	0.43564	D	0.995887	B;B	0.29531	0.247;0.221	B;B	0.30855	0.091;0.121	T	0.13602	-1.0503	10	0.25751	T	0.34	-0.6664	17.6808	0.88242	0.0:0.0:1.0:0.0	.	222;222	Q96EX2;E9PAM7	RNFT2_HUMAN;.	T	222	ENSP00000257575:A222T;ENSP00000376332:A222T	ENSP00000257575:A222T	A	+	1	0	RNFT2	115689038	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.014000	0.64029	2.712000	0.92718	0.655000	0.94253	GCC		0.507	RNFT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320417.1	NM_032814	
CIT	11113	broad.mit.edu	37	12	120173051	120173051	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr12:120173051C>T	ENST00000261833.7	-	24	2996	c.2944G>A	c.(2944-2946)Gac>Aac	p.D982N	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Missense_Mutation_p.D1024N	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	982					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.D982N(1)|p.D1025N(1)		breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		ACAATCTCGTCGTTGGCGCCA	0.522																																					p.D982N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2944A	12						.						226.0	198.0	208.0					12																	120173051		2203	4300	6503	118657434	SO:0001583	missense	11113	exon24			AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.2944G>A	12.37:g.120173051C>T	ENSP00000261833:p.Asp982Asn		118657434	NM_007174	Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.029522	0.75504	.	.	ENSG00000122966	ENST00000392521;ENST00000261833	T;T	0.65549	-0.11;-0.16	5.23	5.23	0.72850	.	0.056142	0.64402	D	0.000001	T	0.45637	0.1352	N	0.14661	0.345	0.54753	D	0.999981	B;B;B	0.31519	0.046;0.327;0.001	B;B;B	0.24701	0.006;0.055;0.001	T	0.38394	-0.9663	10	0.24483	T	0.36	.	19.1641	0.93546	0.0:1.0:0.0:0.0	.	1024;982;515	Q2M5E1;O14578;O14578-3	.;CTRO_HUMAN;.	N	1024;982	ENSP00000376306:D1024N;ENSP00000261833:D982N	ENSP00000261833:D982N	D	-	1	0	CIT	118657434	1.000000	0.71417	0.985000	0.45067	0.954000	0.61252	6.050000	0.71063	2.587000	0.87381	0.655000	0.94253	GAC		0.522	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174	
GCN1L1	10985	broad.mit.edu	37	12	120578704	120578704	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr12:120578704T>C	ENST00000300648.6	-	45	5965	c.5953A>G	c.(5953-5955)Att>Gtt	p.I1985V		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1985					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)	p.I1985V(1)		NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTTAGGCCAATGCACACACCC	0.567																																					p.I1985V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5953G	12						.						137.0	141.0	140.0					12																	120578704		2086	4237	6323	119063087	SO:0001583	missense	10985	exon45			U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.5953A>G	12.37:g.120578704T>C	ENSP00000300648:p.Ile1985Val		119063087	NM_006836	A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	T	13.24	2.179010	0.38511	.	.	ENSG00000089154	ENST00000300648	T	0.64991	-0.13	5.01	3.64	0.41730	Armadillo-like helical (1);Armadillo-type fold (1);	0.061993	0.64402	D	0.000005	T	0.52549	0.1741	L	0.43646	1.37	0.58432	D	0.999997	B	0.09022	0.002	B	0.13407	0.009	T	0.54662	-0.8260	10	0.51188	T	0.08	.	11.2329	0.48923	0.0:0.085:0.0:0.915	.	1985	Q92616	GCN1L_HUMAN	V	1985	ENSP00000300648:I1985V	ENSP00000300648:I1985V	I	-	1	0	GCN1L1	119063087	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.658000	0.68003	1.880000	0.54463	0.379000	0.24179	ATT		0.567	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1		
ANAPC5	51433	broad.mit.edu	37	12	121746350	121746350	+	Missense_Mutation	SNP	G	G	A	rs115934510		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr12:121746350G>A	ENST00000261819.3	-	17	2322	c.2201C>T	c.(2200-2202)gCg>gTg	p.A734V	ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000441917.2_Missense_Mutation_p.A622V|ANAPC5_ENST00000535482.1_Missense_Mutation_p.A400V|ANAPC5_ENST00000541887.1_Missense_Mutation_p.A721V|ANAPC5_ENST00000344395.4_Missense_Mutation_p.A622V	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	734					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.A734V(2)		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)					GAAGAGCATCGCACACCGGTT	0.562																																					p.A622V												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C1865T	12						.						111.0	104.0	107.0					12																	121746350		2203	4300	6503	120230733	SO:0001583	missense	51433	exon17			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.2201C>T	12.37:g.121746350G>A	ENSP00000261819:p.Ala734Val		120230733	NM_001137559	E9PFB2|Q8N4H7|Q9BQD4	Missense_Mutation	SNP	ENST00000261819.3	37	CCDS9220.1	.	.	.	.	.	.	.	.	.	.	G	34	5.355967	0.95854	.	.	ENSG00000089053	ENST00000441917;ENST00000541887;ENST00000261819;ENST00000535482;ENST00000544314;ENST00000344395	T	0.75367	-0.93	5.61	5.61	0.85477	Tetratricopeptide-like helical (1);	0.106601	0.64402	D	0.000005	T	0.82033	0.4949	L	0.58101	1.795	0.80722	D	1	D;D;D	0.69078	0.997;0.988;0.995	P;P;P	0.57009	0.811;0.559;0.652	D	0.83620	0.0139	10	0.87932	D	0	.	18.6393	0.91389	0.0:0.0:1.0:0.0	.	400;622;734	F5H0N1;E9PFB2;Q9UJX4	.;.;APC5_HUMAN	V	622;721;734;400;336;622	ENSP00000438754:A400V	ENSP00000261819:A734V	A	-	2	0	ANAPC5	120230733	1.000000	0.71417	0.617000	0.29091	0.991000	0.79684	8.733000	0.91539	2.646000	0.89796	0.563000	0.77884	GCG		0.562	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402582.1		
ZCCHC8	55596	broad.mit.edu	37	12	122958551	122958551	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr12:122958551G>A	ENST00000336229.4	-	14	1747	c.1617C>T	c.(1615-1617)agC>agT	p.S539S	ZCCHC8_ENST00000543897.1_Silent_p.S301S|ZCCHC8_ENST00000536306.1_Silent_p.S301S|ZCCHC8_ENST00000538116.1_Silent_p.S150S	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	539					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.S539S(1)		endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		CGTCGGAGTCGCTGTTTACGC	0.537																																					p.S539S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1617T	12						.						165.0	172.0	170.0					12																	122958551		2165	4268	6433	121524504	SO:0001819	synonymous_variant	55596	exon14			BC017704		12q24.31	2014-04-14				ENSG00000033030		"""Zinc fingers, CCHC domain containing"""	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.1617C>T	12.37:g.122958551G>A			121524504	NM_017612	Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Silent	SNP	ENST00000336229.4	37																																																																																					0.537	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017612	
ZCCHC8	55596	broad.mit.edu	37	12	122967855	122967855	+	Silent	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr12:122967855T>C	ENST00000336229.4	-	7	772	c.642A>G	c.(640-642)gaA>gaG	p.E214E	ZCCHC8_ENST00000543897.1_5'UTR|ZCCHC8_ENST00000536306.1_5'UTR	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	214					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E214E(1)		endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		TTTCTTGCCCTTCTAGAGAAA	0.313																																					p.E214E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A642G	12						.						99.0	92.0	94.0					12																	122967855		1812	4072	5884	121533808	SO:0001819	synonymous_variant	55596	exon7			BC017704		12q24.31	2014-04-14				ENSG00000033030		"""Zinc fingers, CCHC domain containing"""	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.642A>G	12.37:g.122967855T>C			121533808	NM_017612	Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Silent	SNP	ENST00000336229.4	37																																																																																					0.313	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017612	
TCTN2	79867	broad.mit.edu	37	12	124189191	124189191	+	Silent	SNP	G	G	A	rs145483549		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr12:124189191G>A	ENST00000303372.5	+	15	1853	c.1725G>A	c.(1723-1725)gcG>gcA	p.A575A	RP11-338K17.8_ENST00000538837.1_lincRNA|TCTN2_ENST00000426174.2_Silent_p.A574A	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	575					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)		p.A575A(1)		breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		ATGCTGGCGCGGTGGAAGGGA	0.532																																					p.A575A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1725A	12						.	G	,	0,4406		0,0,2203	92.0	74.0	80.0		1722,1725	-11.2	0.0	12	dbSNP_134	80	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TCTN2	NM_001143850.1,NM_024809.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	574/697,575/698	124189191	1,13005	2203	4300	6503	122755144	SO:0001819	synonymous_variant	79867	exon15			AK056924	CCDS9253.1, CCDS45007.1	12q24.31	2011-04-12	2007-08-20	2007-08-20	ENSG00000168778	ENSG00000168778		"""Tectonic proteins"""	25774	protein-coding gene	gene with protein product	"""Meckel syndrome, type 8"""	613846	"""chromosome 12 open reading frame 38"""	C12orf38		21462283	Standard	NM_024809		Approved	FLJ12975, TECT2, MKS8	uc001ufp.3	Q96GX1	OTTHUMG00000168700	ENST00000303372.5:c.1725G>A	12.37:g.124189191G>A			122755144	NM_024809	A8K7Y8|B3KPW5|Q9H966	Silent	SNP	ENST00000303372.5	37	CCDS9253.1																																																																																				0.532	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400652.1	NM_024809	
DDX47	51202	broad.mit.edu	37	12	12976934	12976934	+	Missense_Mutation	SNP	A	A	G	rs199916690		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr12:12976934A>G	ENST00000358007.3	+	8	903	c.881A>G	c.(880-882)cAt>cGt	p.H294R	DDX47_ENST00000352940.4_Intron	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	294	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.H294R(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		ATCCCCCTCCATGGACAAATG	0.463																																					p.H294R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A881G	12						.	A	ARG/HIS,	0,4406		0,0,2203	132.0	130.0	131.0		881,	4.5	1.0	12		131	1,8599	1.2+/-3.3	0,1,4299	no	missense,intron	DDX47	NM_016355.3,NM_201224.1	29,	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	probably-damaging,	294/456,	12976934	1,13005	2203	4300	6503	12868201	SO:0001583	missense	51202	exon8			AK127712	CCDS8655.1, CCDS8656.1	12p13.2	2010-07-06			ENSG00000213782	ENSG00000213782		"""DEAD-boxes"""	18682	protein-coding gene	gene with protein product		615428					Standard	NM_016355		Approved	DKFZp564O176, FLJ30012, HQ0256, RRP3	uc001rax.3	Q9H0S4	OTTHUMG00000168709	ENST00000358007.3:c.881A>G	12.37:g.12976934A>G	ENSP00000350698:p.His294Arg		12868201	NM_016355	B3KXP4|G5E955|Q96GM0|Q96NV8|Q9UI98	Missense_Mutation	SNP	ENST00000358007.3	37	CCDS8655.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.144317	0.77888	0.0	1.16E-4	ENSG00000213782	ENST00000358007	T	0.08102	3.13	5.67	4.53	0.55603	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.33614	0.0869	M	0.89715	3.055	0.80722	D	1	D;D	0.62365	0.991;0.98	D;P	0.74348	0.983;0.906	T	0.22871	-1.0204	10	0.87932	D	0	-16.3417	11.5272	0.50586	0.9301:0.0:0.0699:0.0	.	294;294	Q9H4E3;Q9H0S4	.;DDX47_HUMAN	R	294	ENSP00000350698:H294R	ENSP00000350698:H294R	H	+	2	0	DDX47	12868201	1.000000	0.71417	0.994000	0.49952	0.991000	0.79684	9.049000	0.93837	0.984000	0.38629	0.533000	0.62120	CAT		0.463	DDX47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400674.1	NM_016355	
GPRC5A	9052	broad.mit.edu	37	12	13061271	13061271	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr12:13061271G>A	ENST00000014914.5	+	2	978	c.88G>A	c.(88-90)Gtc>Atc	p.V30I	GPRC5A_ENST00000542056.1_Intron	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, class C, group 5, member A	30					signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V30I(3)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	TTGGGGCATCGTCCTAGAAAC	0.557																																					p.V30I												.	.	3	Substitution - Missense(3)	large_intestine(2)|endometrium(1)	c.G88A	12						.						85.0	80.0	82.0					12																	13061271		2203	4300	6503	12952538	SO:0001583	missense	9052	exon2			AF095448	CCDS8657.1	12p13-p12.3	2014-01-30	2014-01-30	2005-05-03		ENSG00000013588		"""GPCR / Class C : Orphans"""	9836	protein-coding gene	gene with protein product		604138	"""retinoic acid induced 3"", ""G protein-coupled receptor, family C, group 5, member A"""	RAI3, GPCR5A		9857033	Standard	NM_003979		Approved	RAIG1	uc001rba.3	Q8NFJ5		ENST00000014914.5:c.88G>A	12.37:g.13061271G>A	ENSP00000014914:p.Val30Ile		12952538	NM_003979	B3KV45|O95357	Missense_Mutation	SNP	ENST00000014914.5	37	CCDS8657.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.033298	0.35893	.	.	ENSG00000013588	ENST00000014914;ENST00000534831	T;T	0.25749	1.78;1.82	5.36	3.52	0.40303	.	0.254509	0.33217	N	0.005144	T	0.15003	0.0362	N	0.26042	0.785	0.36116	D	0.845142	B;B	0.34255	0.445;0.445	B;B	0.25291	0.03;0.059	T	0.16541	-1.0399	10	0.22706	T	0.39	-1.3382	12.0442	0.53471	0.1419:0.0:0.8581:0.0	.	30;30	Q8NFJ5;A8K556	RAI3_HUMAN;.	I	30	ENSP00000014914:V30I;ENSP00000441627:V30I	ENSP00000014914:V30I	V	+	1	0	GPRC5A	12952538	1.000000	0.71417	0.998000	0.56505	0.157000	0.22087	4.618000	0.61211	0.627000	0.30340	-0.258000	0.10820	GTC		0.557	GPRC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400682.1		
HEBP1	50865	broad.mit.edu	37	12	13128270	13128270	+	Missense_Mutation	SNP	C	C	T	rs151291131	byFrequency	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr12:13128270C>T	ENST00000014930.4	-	4	700	c.542G>A	c.(541-543)cGc>cAc	p.R181H	RP11-392P7.6_ENST00000536029.1_RNA|HEBP1_ENST00000540916.1_5'UTR|RP11-392P7.6_ENST00000542078.1_RNA|RP11-392P7.6_ENST00000543515.2_RNA|RP11-392P7.6_ENST00000545914.1_RNA	NM_015987.4	NP_057071.2	Q9NRV9	HEBP1_HUMAN	heme binding protein 1	181					circadian rhythm (GO:0007623)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	heme binding (GO:0020037)	p.R181H(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		GATCTCATTGCGCCGTCCGTA	0.592																																					p.R181H												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G542A	12						.	C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	137.0	113.0	121.0		542	3.8	1.0	12	dbSNP_134	121	4,8596	3.7+/-12.6	0,4,4296	yes	missense	HEBP1	NM_015987.4	29	0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384	possibly-damaging	181/190	13128270	5,13001	2203	4300	6503	13019537	SO:0001583	missense	50865	exon4			AF117615	CCDS31749.1	12p13.2	2014-01-30			ENSG00000013583	ENSG00000013583		"""Endogenous ligands"""	17176	protein-coding gene	gene with protein product		605826				10640688	Standard	NM_015987		Approved	HEBP, HBP	uc001rbd.3	Q9NRV9	OTTHUMG00000168771	ENST00000014930.4:c.542G>A	12.37:g.13128270C>T	ENSP00000014930:p.Arg181His		13019537	NM_015987	A8K1G2|Q9Y5Z5	Missense_Mutation	SNP	ENST00000014930.4	37	CCDS31749.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.046137	0.36085	2.27E-4	4.65E-4	ENSG00000013583	ENST00000014930	T	0.27720	1.65	4.76	3.85	0.44370	Regulatory factor, effector, bacterial (1);	0.168838	0.51477	D	0.000082	T	0.27278	0.0669	L	0.45285	1.41	0.80722	D	1	P	0.42973	0.796	B	0.41510	0.359	T	0.02852	-1.1102	10	0.22109	T	0.4	-13.9495	13.3786	0.60754	0.159:0.841:0.0:0.0	.	181	Q9NRV9	HEBP1_HUMAN	H	181	ENSP00000014930:R181H	ENSP00000014930:R181H	R	-	2	0	HEBP1	13019537	1.000000	0.71417	0.994000	0.49952	0.896000	0.52359	4.281000	0.58965	1.314000	0.45095	0.655000	0.94253	CGC		0.592	HEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401001.1		
DNAH10	196385	broad.mit.edu	37	12	124366278	124366278	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr12:124366278G>A	ENST00000409039.3	+	50	8412	c.8387G>A	c.(8386-8388)cGc>cAc	p.R2796H		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2796	AAA 4. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R2796H(1)|p.R1388H(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CGCATGGACCGCGGCCACGCC	0.567																																					p.R2796H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G8387A	12						.						21.0	23.0	22.0					12																	124366278		1753	3659	5412	122932231	SO:0001583	missense	196385	exon50			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.8387G>A	12.37:g.124366278G>A	ENSP00000386770:p.Arg2796His		122932231	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	21.3	4.122908	0.77436	.	.	ENSG00000197653	ENST00000409039	T	0.57273	0.41	5.57	2.73	0.32206	Dynein heavy chain, P-loop containing D4 domain (1);	0.273088	0.29940	U	0.010814	T	0.72036	0.3411	M	0.91196	3.185	0.51482	D	0.99992	D	0.71674	0.998	D	0.65323	0.934	T	0.72852	-0.4167	10	0.54805	T	0.06	.	7.8861	0.29651	0.1385:0.0:0.7291:0.1324	.	2796	Q8IVF4	DYH10_HUMAN	H	2796	ENSP00000386770:R2796H	ENSP00000386770:R2796H	R	+	2	0	DNAH10	122932231	0.998000	0.40836	0.796000	0.32109	0.574000	0.36063	2.565000	0.45939	0.712000	0.32039	0.558000	0.71614	CGC		0.567	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		
MMP17	4326	broad.mit.edu	37	12	132323237	132323237	+	Missense_Mutation	SNP	C	C	T	rs144538442		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr12:132323237C>T	ENST00000360564.1	+	3	475	c.373C>T	c.(373-375)Cgc>Tgc	p.R125C	MMP17_ENST00000535291.1_Missense_Mutation_p.R41C	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	125	Poly-Arg.				positive regulation of catalytic activity (GO:0043085)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R125C(1)		endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	Marimastat(DB00786)	TCGCAGGAGACGCCAGGCTCC	0.672																																					p.R125C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C373T	12						.	C	CYS/ARG	0,4402		0,0,2201	33.0	29.0	30.0		373	3.9	1.0	12	dbSNP_134	30	1,8595		0,1,4297	no	missense	MMP17	NM_016155.4	180	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	125/604	132323237	1,12997	2201	4298	6499	130889190	SO:0001583	missense	4326	exon3			X89576	CCDS31927.1	12q24.3	2005-08-08	2005-08-08		ENSG00000198598	ENSG00000198598			7163	protein-coding gene	gene with protein product		602285	"""matrix metalloproteinase 17 (membrane-inserted)"""			9878265	Standard	NM_016155		Approved	MT4-MMP	uc001ujc.1	Q9ULZ9	OTTHUMG00000168050	ENST00000360564.1:c.373C>T	12.37:g.132323237C>T	ENSP00000353767:p.Arg125Cys		130889190	NM_016155	Q14850	Missense_Mutation	SNP	ENST00000360564.1	37	CCDS31927.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.312072	0.40895	0.0	1.16E-4	ENSG00000198598	ENST00000360564;ENST00000545671;ENST00000545790;ENST00000535291	T;T;T;T	0.40756	1.98;1.02;2.46;2.02	3.87	3.87	0.44632	Metallopeptidase, catalytic domain (1);	14.507400	0.00550	N	0.000248	T	0.79713	0.4493	H	0.95328	3.655	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67173	-0.5737	10	0.87932	D	0	.	16.3405	0.83080	0.0:1.0:0.0:0.0	.	125	Q9ULZ9	MMP17_HUMAN	C	125;21;41;41	ENSP00000353767:R125C;ENSP00000444603:R21C;ENSP00000441710:R41C;ENSP00000441106:R41C	ENSP00000353767:R125C	R	+	1	0	MMP17	130889190	1.000000	0.71417	0.967000	0.41034	0.108000	0.19459	3.265000	0.51561	2.155000	0.67459	0.511000	0.50034	CGC		0.672	MMP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397757.1	NM_016155	
SLC6A13	6540	broad.mit.edu	37	12	344297	344297	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr12:344297A>G	ENST00000343164.4	-	7	842	c.790T>C	c.(790-792)Ttt>Ctt	p.F264L	SLC6A13_ENST00000445055.2_Missense_Mutation_p.F172L	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	264					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)	p.F264L(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			TACAGGTAAAACTGAATTCCT	0.557																																					p.F172L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T514C	12						.						140.0	124.0	130.0					12																	344297		2203	4300	6503	214558	SO:0001583	missense	6540	exon5			U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"""Solute carriers"""	11046	protein-coding gene	gene with protein product	"""GABA transporter 2"""	615097	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 13"""				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.790T>C	12.37:g.344297A>G	ENSP00000339260:p.Phe264Leu		214558	NM_001190997	B4DJL1|Q8TCC2|Q8WW56	Missense_Mutation	SNP	ENST00000343164.4	37	CCDS8502.1	.	.	.	.	.	.	.	.	.	.	A	31	5.101487	0.94245	.	.	ENSG00000010379	ENST00000445055;ENST00000313154;ENST00000343164	T;T	0.76578	-1.03;-1.03	4.37	4.37	0.52481	.	0.106626	0.64402	D	0.000003	D	0.88314	0.6403	M	0.86178	2.8	0.80722	D	1	D;D;D	0.69078	0.971;0.997;0.997	D;D;D	0.76575	0.909;0.968;0.988	D	0.90219	0.4270	10	0.72032	D	0.01	.	13.7353	0.62813	1.0:0.0:0.0:0.0	.	172;243;264	B4DJL1;B4DJS3;Q9NSD5	.;.;S6A13_HUMAN	L	172;243;264	ENSP00000407104:F172L;ENSP00000339260:F264L	ENSP00000318097:F243L	F	-	1	0	SLC6A13	214558	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.139000	0.94554	1.840000	0.53500	0.459000	0.35465	TTT		0.557	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397801.1	NM_016615	
CACNA1C	775	broad.mit.edu	37	12	2659121	2659121	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr12:2659121C>T	ENST00000347598.4	+	10	1403	c.1403C>T	c.(1402-1404)aCc>aTc	p.T468I	CACNA1C_ENST00000399597.1_Missense_Mutation_p.T468I|CACNA1C_ENST00000402845.3_Missense_Mutation_p.T468I|CACNA1C_ENST00000399638.1_Missense_Mutation_p.T468I|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000399606.1_Missense_Mutation_p.T468I|CACNA1C_ENST00000399601.1_Missense_Mutation_p.T468I|CACNA1C_ENST00000399591.1_Missense_Mutation_p.T468I|CACNA1C_ENST00000399655.1_Missense_Mutation_p.T468I|CACNA1C_ENST00000480911.1_Missense_Mutation_p.T468I|CACNA1C_ENST00000399629.1_Missense_Mutation_p.T468I|CACNA1C_ENST00000327702.7_Missense_Mutation_p.T468I|CACNA1C_ENST00000399649.1_Missense_Mutation_p.T468I|CACNA1C_ENST00000406454.3_Missense_Mutation_p.T468I|CACNA1C_ENST00000399634.1_Missense_Mutation_p.T468I|CACNA1C_ENST00000399595.1_Missense_Mutation_p.T468I|CACNA1C_ENST00000399603.1_Missense_Mutation_p.T468I|CACNA1C_ENST00000399621.1_Missense_Mutation_p.T468I|CACNA1C_ENST00000399637.1_Missense_Mutation_p.T468I|CACNA1C_ENST00000399641.1_Missense_Mutation_p.T468I|CACNA1C_ENST00000344100.3_Missense_Mutation_p.T468I|CACNA1C_ENST00000399617.1_Missense_Mutation_p.T468I|CACNA1C_ENST00000399644.1_Missense_Mutation_p.T468I|CACNA1C_ENST00000335762.5_Missense_Mutation_p.T493I	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	468					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.T468I(1)|p.T498I(1)|p.T3I(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AGCATGCCCACCAGTGAGACC	0.602																																					p.T468I												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C1403T	12						.						54.0	59.0	57.0					12																	2659121		2115	4241	6356	2529382	SO:0001583	missense	775	exon10			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.1403C>T	12.37:g.2659121C>T	ENSP00000266376:p.Thr468Ile		2529382	NM_001129842	B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319090	0.81469	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.94000	-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33	5.1	5.1	0.69264	.	.	.	.	.	D	0.94948	0.8366	L	0.36672	1.1	0.53688	D	0.999973	B;D;P;B;D;P;P;P;B;P;P;P;B;P;P;P;P;B;P;B;P;P;P;P;B;P	0.89917	0.397;1.0;0.763;0.157;0.999;0.95;0.873;0.835;0.022;0.534;0.95;0.873;0.024;0.734;0.454;0.862;0.589;0.005;0.692;0.017;0.873;0.692;0.692;0.873;0.065;0.873	B;D;B;B;D;P;P;B;B;B;P;B;B;B;B;P;B;B;B;B;P;B;B;B;B;P	0.85130	0.126;0.997;0.387;0.096;0.997;0.653;0.466;0.39;0.138;0.205;0.653;0.372;0.037;0.39;0.037;0.451;0.15;0.022;0.222;0.037;0.466;0.297;0.222;0.372;0.035;0.466	D	0.94962	0.8109	9	0.49607	T	0.09	.	18.8993	0.92435	0.0:1.0:0.0:0.0	.	97;468;465;468;468;468;468;468;468;468;468;468;439;468;468;468;468;468;468;468;468;468;468;468;468;468	Q5V9X8;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;F5H638;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	I	493;468;468;468;468;468;468;468;468;468;468;468;468;468;468;468;468;468;468;468;468;468;468;309	ENSP00000336982:T493I;ENSP00000382563:T468I;ENSP00000437936:T468I;ENSP00000382552:T468I;ENSP00000382547:T468I;ENSP00000382506:T468I;ENSP00000382530:T468I;ENSP00000382546:T468I;ENSP00000382500:T468I;ENSP00000382549:T468I;ENSP00000266376:T468I;ENSP00000382515:T468I;ENSP00000382510:T468I;ENSP00000341092:T468I;ENSP00000382537:T468I;ENSP00000329877:T468I;ENSP00000382557:T468I;ENSP00000385724:T468I;ENSP00000382512:T468I;ENSP00000382542:T468I;ENSP00000382526:T468I;ENSP00000385896:T468I;ENSP00000382504:T468I	ENSP00000323129:T309I	T	+	2	0	CACNA1C	2529382	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	7.367000	0.79558	2.515000	0.84797	0.655000	0.94253	ACC		0.602	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719	
FOXM1	2305	broad.mit.edu	37	12	2968560	2968560	+	Silent	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr12:2968560T>C	ENST00000359843.3	-	9	1604	c.1536A>G	c.(1534-1536)agA>agG	p.R512R	AC005841.1_ENST00000382678.3_5'Flank|ITFG2_ENST00000545509.1_Intron|FOXM1_ENST00000361953.3_Silent_p.R497R|FOXM1_ENST00000342628.2_Silent_p.R550R|Y_RNA_ENST00000410561.1_RNA	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	512	Glu/Pro/Ser/Thr-rich.				cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.R550R(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			ACTTCTTGGGTCTTGGGGTGG	0.582																																					p.R497R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1491G	12						.						94.0	98.0	97.0					12																	2968560		2203	4300	6503	2838821	SO:0001819	synonymous_variant	2305	exon8			Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"""Forkhead boxes"""	3818	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 2"""	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.1536A>G	12.37:g.2968560T>C			2838821	NM_202003	O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Silent	SNP	ENST00000359843.3	37	CCDS8515.1																																																																																				0.582	FOXM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398272.1	NM_021953	
DYRK4	8798	broad.mit.edu	37	12	4702269	4702269	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr12:4702269G>A	ENST00000540757.2	+	4	380	c.220G>A	c.(220-222)Gac>Aac	p.D74N	DYRK4_ENST00000010132.5_Missense_Mutation_p.D74N|DYRK4_ENST00000543431.1_Missense_Mutation_p.D74N	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	74						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.D476N(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			CAAGAAGCTCGACACGGCTCC	0.527																																					p.D74N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G220A	12						.						64.0	68.0	66.0					12																	4702269		2203	4300	6503	4572530	SO:0001583	missense	8798	exon4			Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.220G>A	12.37:g.4702269G>A	ENSP00000441755:p.Asp74Asn		4572530	NM_003845	A8K8F7|Q8NEF2|Q92631	Missense_Mutation	SNP	ENST00000540757.2	37	CCDS8530.1	.	.	.	.	.	.	.	.	.	.	G	3.219	-0.159894	0.06502	.	.	ENSG00000010219	ENST00000542744;ENST00000540757;ENST00000010132;ENST00000543431	T;T;T;T	0.63744	-0.06;-0.03;-0.03;-0.03	4.93	0.0771	0.14406	.	0.492760	0.23678	N	0.045654	T	0.32466	0.0830	N	0.05351	-0.065	0.80722	D	1	B;B;B	0.10296	0.003;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.03566	-1.1024	10	0.15952	T	0.53	.	6.2209	0.20681	0.2129:0.4869:0.3003:0.0	.	189;74;74	F5H6L9;Q9NR20-2;Q9NR20	.;.;DYRK4_HUMAN	N	189;74;74;74	ENSP00000437534:D189N;ENSP00000441755:D74N;ENSP00000010132:D74N;ENSP00000439697:D74N	ENSP00000010132:D74N	D	+	1	0	DYRK4	4572530	1.000000	0.71417	0.679000	0.29978	0.104000	0.19210	1.672000	0.37523	0.069000	0.16605	-0.424000	0.05967	GAC		0.527	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398780.2		
VWF	7450	broad.mit.edu	37	12	6128117	6128117	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr12:6128117C>T	ENST00000261405.5	-	28	4721	c.4467G>A	c.(4465-4467)ggG>ggA	p.G1489G		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1489					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.G1489G(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCCTCTTGGGCCCCAGGGTCG	0.597																																					p.G1489G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G4467A	12						.						29.0	34.0	32.0					12																	6128117		2203	4300	6503	5998378	SO:0001819	synonymous_variant	7450	exon28				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.4467G>A	12.37:g.6128117C>T			5998378	NM_000552	Q8TCE8|Q99806	Silent	SNP	ENST00000261405.5	37	CCDS8539.1																																																																																				0.597	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552	
VWF	7450	broad.mit.edu	37	12	6184701	6184701	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr12:6184701C>T	ENST00000261405.5	-	7	928	c.674G>A	c.(673-675)tGc>tAc	p.C225Y		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	225	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.C225Y(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CAGAAGCTGGCACTGCTCCCA	0.602																																					p.C225Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G674A	12						.						36.0	36.0	36.0					12																	6184701		2203	4299	6502	6054962	SO:0001583	missense	7450	exon7				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.674G>A	12.37:g.6184701C>T	ENSP00000261405:p.Cys225Tyr		6054962	NM_000552	Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.972028	0.74246	.	.	ENSG00000110799	ENST00000261405	D	0.95918	-3.85	4.71	4.71	0.59529	von Willebrand factor, type D domain (1);Uncharacterised domain, cysteine-rich (2);	0.000000	0.44688	D	0.000421	D	0.98770	0.9586	H	0.98721	4.31	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.97110	1.0;0.997	D	0.99568	1.0970	10	0.87932	D	0	.	16.6027	0.84820	0.0:1.0:0.0:0.0	.	225;225	B4DNX0;P04275	.;VWF_HUMAN	Y	225	ENSP00000261405:C225Y	ENSP00000261405:C225Y	C	-	2	0	VWF	6054962	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.815000	0.69215	2.315000	0.78130	0.561000	0.74099	TGC		0.602	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552	
NOP2	4839	broad.mit.edu	37	12	6670870	6670870	+	Silent	SNP	C	C	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr12:6670870C>A	ENST00000322166.5	-	11	1288	c.1167G>T	c.(1165-1167)ctG>ctT	p.L389L	NOP2_ENST00000537442.1_Silent_p.L389L|NOP2_ENST00000541778.1_Silent_p.L385L|NOP2_ENST00000382421.3_Silent_p.L422L|NOP2_ENST00000542015.1_Intron|NOP2_ENST00000545200.1_Silent_p.L385L|NOP2_ENST00000399466.2_Silent_p.L385L	NM_001258308.1|NM_006170.3	NP_001245237.1|NP_006161.2	P46087	NOP2_HUMAN	NOP2 nucleolar protein	389					positive regulation of cell proliferation (GO:0008284)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)	p.L385L(1)		breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						AACACATGTCCAGGATCCGCT	0.587																																					p.L385L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1155T	12						.						37.0	40.0	39.0					12																	6670870		2036	4180	6216	6541131	SO:0001819	synonymous_variant	4839	exon11				CCDS44811.1, CCDS58202.1, CCDS58203.1, CCDS58204.1	12p13	2012-12-10	2012-12-10	2008-10-13	ENSG00000111641	ENSG00000111641		"""NOP2/Sun domain containing"""	7867	protein-coding gene	gene with protein product	"""NOP2/Sun domain family, member 1"""	164031	"""nucleolar protein 1 (120kD)"", ""nucleolar protein 1, 120kDa"", ""nucleolar protein 2 homolog (yeast)"", ""NOP2 nucleolar protein homolog (yeast)"""	NOL1		8088812	Standard	NM_006170		Approved	NOP120, NSUN1, p120	uc021qtz.2	P46087	OTTHUMG00000169163	ENST00000322166.5:c.1167G>T	12.37:g.6670870C>A			6541131	NM_006170	A1A4Z3|B3KPD6|Q05BA7|Q0P5S5|Q3KQS4|Q58F30	Silent	SNP	ENST00000322166.5	37	CCDS58203.1																																																																																				0.587	NOP2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402614.1	NM_006170	
CHD4	1108	broad.mit.edu	37	12	6709787	6709787	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr12:6709787T>C	ENST00000357008.2	-	8	1139	c.976A>G	c.(976-978)Atc>Gtc	p.I326V	CHD4_ENST00000544040.1_Missense_Mutation_p.I319V|CHD4_ENST00000544484.1_Missense_Mutation_p.I323V|CHD4_ENST00000309577.6_Missense_Mutation_p.I326V	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	326					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)	p.I326V(1)		central_nervous_system(2)	2						TAGCTATTGATACTGGCATCA	0.443																																					p.I326V	Colon(32;586 792 4568 16848 45314)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A976G	12						.						99.0	87.0	91.0					12																	6709787		2203	4300	6503	6580048	SO:0001583	missense	1108	exon8			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.976A>G	12.37:g.6709787T>C	ENSP00000349508:p.Ile326Val		6580048	NM_001273	Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	T	8.662	0.900886	0.17686	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464;ENST00000545942	D;D;D;D;T	0.89485	-2.52;-2.52;-2.52;-2.52;1.0	4.76	3.63	0.41609	.	0.070579	0.53938	D	0.000055	T	0.78553	0.4301	L	0.29908	0.895	0.43874	D	0.996485	B;B;B	0.21520	0.057;0.009;0.002	B;B;B	0.19391	0.025;0.003;0.002	T	0.69072	-0.5242	10	0.10636	T	0.68	-3.5191	7.777	0.29043	0.0:0.1597:0.0:0.8403	.	326;326;319	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	V	323;319;326;326;300;326	ENSP00000440392:I323V;ENSP00000440542:I319V;ENSP00000312419:I326V;ENSP00000349508:I326V;ENSP00000437506:I326V	ENSP00000312419:I326V	I	-	1	0	CHD4	6580048	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.064000	0.49986	2.074000	0.62210	0.459000	0.35465	ATC		0.443	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273	
CDCA3	83461	broad.mit.edu	37	12	6959019	6959019	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr12:6959019G>T	ENST00000538862.2	-	4	1155	c.254C>A	c.(253-255)cCc>cAc	p.P85H	USP5_ENST00000229268.8_5'Flank|CDCA3_ENST00000535406.1_Missense_Mutation_p.P85H|USP5_ENST00000389231.5_5'Flank|CDCA3_ENST00000229265.6_Intron|CDCA3_ENST00000604599.1_5'Flank|CDCA3_ENST00000540683.1_Missense_Mutation_p.P85H|CDCA3_ENST00000422785.3_Missense_Mutation_p.P85H			Q99618	CDCA3_HUMAN	cell division cycle associated 3	85					mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)		p.P85H(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(1)|stomach(1)	8						TGGGCTTGGGGGGTCTAGAGG	0.483																																					p.P85H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C254A	12						.						54.0	62.0	59.0					12																	6959019		2193	4296	6489	6829280	SO:0001583	missense	83461	exon4			BG354576	CCDS8565.1, CCDS73428.1	12p13.31	2010-07-20				ENSG00000111665			14624	protein-coding gene	gene with protein product	"""trigger of mitotic entry 1"""	607749				9074930, 12188893	Standard	XR_242988		Approved	TOME-1, GRCC8	uc001qrg.2	Q99618		ENST00000538862.2:c.254C>A	12.37:g.6959019G>T	ENSP00000442068:p.Pro85His		6829280	NM_031299	A8K5V6|D3DUS6	Missense_Mutation	SNP	ENST00000538862.2	37	CCDS8565.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.013271	0.35511	.	.	ENSG00000237240;ENSG00000111665;ENSG00000111665;ENSG00000111665	ENST00000422785;ENST00000538862;ENST00000535406;ENST00000540683	.	.	.	5.34	3.51	0.40186	.	0.755568	0.12174	N	0.492753	T	0.47097	0.1427	L	0.54323	1.7	0.09310	N	1	D;D	0.61697	0.982;0.99	P;P	0.55999	0.789;0.789	T	0.25467	-1.0131	9	0.15952	T	0.53	-11.4331	7.4123	0.27023	0.2594:0.0:0.7406:0.0	.	85;85	Q99618;F8WDL1	CDCA3_HUMAN;.	H	85	.	ENSP00000446339:P85H	P	-	2	0	U47924.25;CDCA3	6829280	0.006000	0.16342	0.040000	0.18447	0.477000	0.33069	0.745000	0.26259	0.935000	0.37341	0.650000	0.86243	CCC		0.483	CDCA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401940.2	NM_031299	
PTPN6	5777	broad.mit.edu	37	12	7069585	7069585	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr12:7069585C>T	ENST00000318974.9	+	14	1904	c.1660C>T	c.(1660-1662)Cgc>Tgc	p.R554C	PTPN6_ENST00000399448.1_Missense_Mutation_p.R556C|PTPN6_ENST00000447931.2_Missense_Mutation_p.R515C|PTPN6_ENST00000539029.1_3'UTR|U47924.27_ENST00000537269.1_lincRNA|PTPN6_ENST00000456013.1_Missense_Mutation_p.R554C	NM_002831.5	NP_002822.2	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	554					abortive mitotic cell cycle (GO:0033277)|apoptotic process (GO:0006915)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|natural killer cell mediated cytotoxicity (GO:0042267)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell proliferation (GO:0008285)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein dephosphorylation (GO:0006470)|regulation of B cell differentiation (GO:0045577)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|type I interferon signaling pathway (GO:0060337)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R554C(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						CAAGGCCTCCCGCACCTCGTC	0.622																																					p.R554C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1660T	12						.						64.0	74.0	70.0					12																	7069585		2164	4261	6425	6939846	SO:0001583	missense	5777	exon14				CCDS41744.1, CCDS44820.1, CCDS44821.1	12p13.31	2013-02-14			ENSG00000111679	ENSG00000111679		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9658	protein-coding gene	gene with protein product		176883				1639416	Standard	NM_080548		Approved	HCP, HCPH, PTP-1C, SHP-1, SHP1	uc001qsa.1	P29350	OTTHUMG00000168518	ENST00000318974.9:c.1660C>T	12.37:g.7069585C>T	ENSP00000326010:p.Arg554Cys		6939846	NM_002831	A8K306|G3V0F8|Q969V8|Q9UK67	Missense_Mutation	SNP	ENST00000318974.9	37	CCDS44820.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.855669	0.51376	.	.	ENSG00000111679	ENST00000399448;ENST00000447931;ENST00000318974;ENST00000456013	T;T;T;T	0.14640	2.54;2.5;2.49;2.5	5.38	5.38	0.77491	.	0.232964	0.32204	N	0.006435	T	0.26484	0.0647	L	0.60455	1.87	0.51012	D	0.999908	B;D;D;D;B	0.76494	0.088;0.999;0.997;0.998;0.22	B;P;P;P;B	0.54924	0.006;0.764;0.747;0.483;0.051	T	0.00443	-1.1736	10	0.59425	D	0.04	.	13.9047	0.63826	0.1515:0.8485:0.0:0.0	.	542;515;554;554;556	B4DPS0;P29350-2;G3V0F8;P29350;Q53XS4	.;.;.;PTN6_HUMAN;.	C	556;515;554;554	ENSP00000382376:R556C;ENSP00000415979:R515C;ENSP00000326010:R554C;ENSP00000391592:R554C	ENSP00000326010:R554C	R	+	1	0	PTPN6	6939846	0.623000	0.27094	0.978000	0.43139	0.995000	0.86356	1.592000	0.36676	2.519000	0.84933	0.561000	0.74099	CGC		0.622	PTPN6-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400023.1	NM_002831	
CD163L1	283316	broad.mit.edu	37	12	7556300	7556300	+	Silent	SNP	C	C	T	rs529554431		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr12:7556300C>T	ENST00000313599.3	-	6	1296	c.1239G>A	c.(1237-1239)ccG>ccA	p.P413P	CD163L1_ENST00000416109.2_Silent_p.P423P|CD163L1_ENST00000396630.1_Silent_p.P413P			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	413	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.P413P(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AGACGCTGAACGGACATCCTA	0.463																																					p.P413P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1239A	12						.						185.0	170.0	175.0					12																	7556300		2203	4300	6503	7447567	SO:0001819	synonymous_variant	283316	exon6			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.1239G>A	12.37:g.7556300C>T			7447567	NM_174941	B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Silent	SNP	ENST00000313599.3	37	CCDS8577.1																																																																																				0.463	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941	
A2M	2	broad.mit.edu	37	12	9264794	9264794	+	Silent	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr12:9264794A>G	ENST00000318602.7	-	4	751	c.444T>C	c.(442-444)gtT>gtC	p.V148V		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	148					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)	p.V148V(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	CCATGGAGACAACACGAAATT	0.383																																					p.V148V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T444C	12						.						69.0	67.0	68.0					12																	9264794		1831	4076	5907	9156061	SO:0001819	synonymous_variant	2	exon4			BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.444T>C	12.37:g.9264794A>G			9156061	NM_000014	Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Silent	SNP	ENST00000318602.7	37	CCDS44827.1																																																																																				0.383	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014	
RECQL	5965	broad.mit.edu	37	12	21623997	21623997	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr12:21623997G>A	ENST00000444129.2	-	14	2171	c.1703C>T	c.(1702-1704)tCg>tTg	p.S568L	RECQL_ENST00000421138.2_Missense_Mutation_p.S568L	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	568					DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)	membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.S568L(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TTTCAAATACGAAATGGTAGC	0.353								Other identified genes with known or suspected DNA repair function																													p.S568L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1703T	12						.						78.0	72.0	74.0					12																	21623997		2202	4299	6501	21515264	SO:0001583	missense	5965	exon15			D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700			9948	protein-coding gene	gene with protein product	"""DNA helicase Q1-like"""	600537	"""RecQ protein-like (DNA helicase Q1-like)"""			7527136, 7961977	Standard	NM_002907		Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.1703C>T	12.37:g.21623997G>A	ENSP00000416739:p.Ser568Leu		21515264	NM_032941	A8K6G2	Missense_Mutation	SNP	ENST00000444129.2	37	CCDS31756.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.495064	0.85069	.	.	ENSG00000004700	ENST00000444129;ENST00000421138	T;T	0.35048	1.33;1.33	5.63	5.63	0.86233	RQC domain (1);	0.058985	0.64402	D	0.000001	T	0.62744	0.2453	M	0.79475	2.455	0.49483	D	0.999798	D	0.76494	0.999	D	0.65684	0.937	T	0.65635	-0.6120	10	0.72032	D	0.01	-14.4067	19.6772	0.95941	0.0:0.0:1.0:0.0	.	568	P46063	RECQ1_HUMAN	L	568	ENSP00000416739:S568L;ENSP00000395449:S568L	ENSP00000395449:S568L	S	-	2	0	RECQL	21515264	1.000000	0.71417	0.961000	0.40146	0.972000	0.66771	3.772000	0.55325	2.656000	0.90262	0.655000	0.94253	TCG		0.353	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402371.1	NM_002907	
FGFR1OP2	26127	broad.mit.edu	37	12	27110625	27110625	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr12:27110625C>T	ENST00000229395.3	+	4	687	c.345C>T	c.(343-345)agC>agT	p.S115S	FGFR1OP2_ENST00000546072.1_Silent_p.S115S|FGFR1OP2_ENST00000327214.5_Silent_p.S115S	NM_015633.2	NP_056448.1	Q9NVK5	FGOP2_HUMAN	FGFR1 oncogene partner 2	115					wound healing (GO:0042060)	cytosol (GO:0005829)		p.S115S(1)		cervix(1)|large_intestine(4)|lung(1)|prostate(2)	8	Colorectal(261;0.0847)					TAATGGCTAGCAAAAAAGATG	0.373																																					p.S115S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C345T	12						.						84.0	88.0	87.0					12																	27110625		2203	4300	6503	27001892	SO:0001819	synonymous_variant	26127	exon4			AF161472	CCDS8709.1, CCDS53766.1, CCDS53767.1	12p12.1	2014-01-28			ENSG00000111790	ENSG00000111790			23098	protein-coding gene	gene with protein product		608858				15034873	Standard	NM_015633		Approved	DKFZp564O1863	uc001rhm.3	Q9NVK5		ENST00000229395.3:c.345C>T	12.37:g.27110625C>T			27001892	NM_001171888	Q6R955|Q8N5L7|Q9P034|Q9UFK8	Silent	SNP	ENST00000229395.3	37	CCDS8709.1																																																																																				0.373	FGFR1OP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402961.1	NM_015633	
KLHL42	57542	broad.mit.edu	37	12	27951032	27951032	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr12:27951032G>A	ENST00000381271.2	+	3	1762	c.1451G>A	c.(1450-1452)cGt>cAt	p.R484H	RP11-860B13.3_ENST00000543527.1_RNA	NM_020782.1	NP_065833.1	Q9P2K6	KLH42_HUMAN	kelch-like family member 42	484					mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of microtubule-based process (GO:0032886)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.R484H(1)									GCATTTCGGCGTTTTCCAGCT	0.423																																					p.R484H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1451A	12						.						109.0	104.0	105.0					12																	27951032		2203	4300	6503	27842299	SO:0001583	missense	57542	exon3			AB037761	CCDS31763.1	12p11.22	2013-04-24	2013-02-22	2013-01-30	ENSG00000087448	ENSG00000087448		"""Kelch-like"""	29252	protein-coding gene	gene with protein product			"""kelch domain containing 5"""	KLHDC5		19261606	Standard	NM_020782		Approved	KIAA1340, Ctb9	uc001rij.3	Q9P2K6	OTTHUMG00000169217	ENST00000381271.2:c.1451G>A	12.37:g.27951032G>A	ENSP00000370671:p.Arg484His		27842299	NM_020782	Q2VPK1|Q8N334	Missense_Mutation	SNP	ENST00000381271.2	37	CCDS31763.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.712571	0.68730	.	.	ENSG00000087448	ENST00000381271	T	0.67171	-0.25	5.6	5.6	0.85130	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.76011	0.3928	L	0.44542	1.39	0.58432	D	0.999996	D	0.89917	1.0	D	0.68621	0.959	T	0.72606	-0.4242	10	0.33141	T	0.24	.	18.5995	0.91242	0.0:0.0:1.0:0.0	.	484	Q9P2K6	KLDC5_HUMAN	H	484	ENSP00000370671:R484H	ENSP00000370671:R484H	R	+	2	0	KLHDC5	27842299	1.000000	0.71417	0.726000	0.30738	0.973000	0.67179	7.384000	0.79751	2.618000	0.88619	0.655000	0.94253	CGT		0.423	KLHL42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402904.1	NM_020782	
BICD1	636	broad.mit.edu	37	12	32481202	32481202	+	Missense_Mutation	SNP	A	A	G	rs148101509		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr12:32481202A>G	ENST00000281474.5	+	5	1916	c.1813A>G	c.(1813-1815)Act>Gct	p.T605A	BICD1_ENST00000548411.1_Missense_Mutation_p.T605A	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	605					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)	p.T605A(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			TCCTGTTATTACTGCCCCACC	0.458																																					p.T605A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1813G	12						.						214.0	201.0	206.0					12																	32481202		2203	4300	6503	32372469	SO:0001583	missense	636	exon5			U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"""Bicaudal D (Drosophila) homolog 1"""			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.1813A>G	12.37:g.32481202A>G	ENSP00000281474:p.Thr605Ala		32372469	NM_001003398	A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP	ENST00000281474.5	37	CCDS8726.1	.	.	.	.	.	.	.	.	.	.	A	11.59	1.682572	0.29872	.	.	ENSG00000151746	ENST00000548411;ENST00000281474	T;T	0.44083	0.99;0.93	5.2	5.2	0.72013	.	0.394887	0.26397	N	0.024620	T	0.26011	0.0634	N	0.14661	0.345	0.80722	D	1	B;B	0.18461	0.003;0.028	B;B	0.13407	0.003;0.009	T	0.08391	-1.0724	10	0.11794	T	0.64	.	15.0722	0.72046	1.0:0.0:0.0:0.0	.	605;605	F8W113;Q96G01	.;BICD1_HUMAN	A	605	ENSP00000446793:T605A;ENSP00000281474:T605A	ENSP00000281474:T605A	T	+	1	0	BICD1	32372469	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.370000	0.59517	1.956000	0.56807	0.533000	0.62120	ACT		0.458	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	NM_001714	
SLC2A13	114134	broad.mit.edu	37	12	40422181	40422181	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr12:40422181G>A	ENST00000280871.4	-	3	897	c.847C>T	c.(847-849)Cgt>Tgt	p.R283C	SLC2A13_ENST00000380858.1_Missense_Mutation_p.R283C	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	283					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)	p.R264C(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				TGGTTACCACGCATCTGAGAT	0.393										HNSCC(50;0.14)																											p.R283C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C847T	12						.						109.0	112.0	111.0					12																	40422181		2203	4300	6503	38708448	SO:0001583	missense	114134	exon3			AJ315644	CCDS8736.2	12q12	2013-05-22			ENSG00000151229	ENSG00000151229		"""Solute carriers"""	15956	protein-coding gene	gene with protein product	"""H(+)-myo-inositol symporter"""	611036				11500374	Standard	NM_052885		Approved	HMIT	uc010skm.2	Q96QE2	OTTHUMG00000059743	ENST00000280871.4:c.847C>T	12.37:g.40422181G>A	ENSP00000280871:p.Arg283Cys		38708448	NM_052885	Q17S07	Missense_Mutation	SNP	ENST00000280871.4	37	CCDS8736.2	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458498	0.84317	.	.	ENSG00000151229	ENST00000280871;ENST00000380858	T;T	0.76709	-1.04;-1.04	5.54	5.54	0.83059	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.049829	0.85682	D	0.000000	D	0.90480	0.7018	M	0.89840	3.065	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.978;0.99	D	0.90215	0.4267	10	0.44086	T	0.13	-14.5892	19.8499	0.96734	0.0:0.0:1.0:0.0	.	283;283	Q96QE2;E9PE47	MYCT_HUMAN;.	C	283	ENSP00000280871:R283C;ENSP00000370239:R283C	ENSP00000280871:R283C	R	-	1	0	SLC2A13	38708448	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.098000	0.71458	2.779000	0.95612	0.591000	0.81541	CGT		0.393	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132849.2		
LRRK2	120892	broad.mit.edu	37	12	40689351	40689351	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr12:40689351A>G	ENST00000298910.7	+	23	3059	c.3001A>G	c.(3001-3003)Agc>Ggc	p.S1001G	LRRK2_ENST00000343742.2_Missense_Mutation_p.S1001G	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1001					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.S1001G(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TGATGCCCTAAGCCAGAAATG	0.403																																					p.S1001G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A3001G	12						.						81.0	75.0	77.0					12																	40689351		2203	4300	6503	38975618	SO:0001583	missense	120892	exon23			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.3001A>G	12.37:g.40689351A>G	ENSP00000298910:p.Ser1001Gly		38975618	NM_198578	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	A	17.10	3.303807	0.60305	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.25749	2.17;1.78	5.71	3.28	0.37604	.	0.280642	0.44688	N	0.000437	T	0.12220	0.0297	N	0.10629	0.01	0.31930	N	0.612262	B;B	0.12013	0.003;0.005	B;B	0.14578	0.011;0.009	T	0.10590	-1.0623	10	0.33141	T	0.24	.	8.5794	0.33619	0.7873:0.0:0.2127:0.0	.	1001;1001	E9PC85;Q5S007	.;LRRK2_HUMAN	G	1001	ENSP00000341930:S1001G;ENSP00000298910:S1001G	ENSP00000298910:S1001G	S	+	1	0	LRRK2	38975618	0.936000	0.31750	0.892000	0.35008	0.906000	0.53458	2.022000	0.41030	0.403000	0.25479	0.482000	0.46254	AGC		0.403	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513	
CNTN1	1272	broad.mit.edu	37	12	41387065	41387065	+	Missense_Mutation	SNP	G	G	T	rs370161709		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr12:41387065G>T	ENST00000551295.2	+	17	2224	c.2107G>T	c.(2107-2109)Ggt>Tgt	p.G703C	CNTN1_ENST00000348761.2_Missense_Mutation_p.G692C|CNTN1_ENST00000347616.1_Missense_Mutation_p.G703C	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	703	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.G703C(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TAAAACAGACGGTGCTGGTAT	0.368																																					p.G692C												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G2074T	12						.						62.0	64.0	64.0					12																	41387065		2203	4300	6503	39673332	SO:0001583	missense	1272	exon16			Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.2107G>T	12.37:g.41387065G>T	ENSP00000447006:p.Gly703Cys		39673332	NM_175038	A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.142868	0.77888	.	.	ENSG00000018236	ENST00000551295;ENST00000347616;ENST00000348761	T;T;T	0.54279	0.58;0.58;0.58	5.2	5.2	0.72013	Fibronectin, type III (1);	0.104299	0.64402	D	0.000003	T	0.72252	0.3437	M	0.68317	2.08	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76071	0.987;0.985	T	0.74999	-0.3472	10	0.87932	D	0	.	19.1136	0.93328	0.0:0.0:1.0:0.0	.	692;703	Q12860-2;Q12860	.;CNTN1_HUMAN	C	703;703;692	ENSP00000447006:G703C;ENSP00000325660:G703C;ENSP00000261160:G692C	ENSP00000325660:G703C	G	+	1	0	CNTN1	39673332	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	4.755000	0.62198	2.576000	0.86940	0.555000	0.69702	GGT		0.368	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843	
ADAMTS20	80070	broad.mit.edu	37	12	43823440	43823440	+	Nonsense_Mutation	SNP	G	G	A	rs372136438		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr12:43823440G>A	ENST00000389420.3	-	24	3468	c.3469C>T	c.(3469-3471)Cga>Tga	p.R1157*	ADAMTS20_ENST00000553158.1_Nonsense_Mutation_p.R1157*|ADAMTS20_ENST00000395541.2_Intron	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1157	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R1157*(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GAACCATGTCGCCATTGTGCC	0.363																																					p.R1157X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3469T	12						.						60.0	54.0	56.0					12																	43823440		2202	4300	6502	42109707	SO:0001587	stop_gained	80070	exon24			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.3469C>T	12.37:g.43823440G>A	ENSP00000374071:p.Arg1157*		42109707	NM_025003	A6NNC9|J3QT00	Nonsense_Mutation	SNP	ENST00000389420.3	37	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	G	40	8.440029	0.98813	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	.	.	.	4.89	2.86	0.33363	.	0.164239	0.27946	N	0.017207	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4426	0.61123	0.0:0.0:0.6341:0.3659	.	.	.	.	X	1157	.	ENSP00000374068:R1157X	R	-	1	2	ADAMTS20	42109707	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	1.271000	0.33098	1.341000	0.45600	0.591000	0.81541	CGA		0.363	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003	
RPAP3	79657	broad.mit.edu	37	12	48063988	48063988	+	Silent	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr12:48063988A>G	ENST00000005386.3	-	13	1543	c.1428T>C	c.(1426-1428)agT>agC	p.S476S	RPAP3_ENST00000380650.4_Silent_p.S442S|RPAP3_ENST00000432584.3_Silent_p.S317S	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3	476								p.S476S(1)		endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					AATTCTTCTTACTTGTGGTGC	0.403																																					p.S317S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T951C	12						.						189.0	180.0	183.0					12																	48063988		2203	4300	6503	46350255	SO:0001819	synonymous_variant	79657	exon12			AK025561	CCDS8753.1, CCDS53782.1, CCDS53783.1	12q13.11	2013-01-10				ENSG00000005175		"""Tetratricopeptide (TTC) repeat domain containing"""	26151	protein-coding gene	gene with protein product		611477				17643375	Standard	NM_024604		Approved	FLJ21908, spag	uc001rpr.3	Q9H6T3	OTTHUMG00000169668	ENST00000005386.3:c.1428T>C	12.37:g.48063988A>G			46350255	NM_001146076	B4DRW9|Q6PHR5	Silent	SNP	ENST00000005386.3	37	CCDS8753.1																																																																																				0.403	RPAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405340.1	NM_024604	
VDR	7421	broad.mit.edu	37	12	48240450	48240450	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr12:48240450G>A	ENST00000395324.2	-	8	1165	c.897C>T	c.(895-897)gaC>gaT	p.D299D	VDR_ENST00000550325.1_Silent_p.D349D|VDR_ENST00000229022.3_Silent_p.D299D|VDR_ENST00000535672.1_Silent_p.D267D|VDR_ENST00000549336.1_Silent_p.D299D			P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	299	Ligand-binding.				bile acid signaling pathway (GO:0038183)|calcium ion transport (GO:0006816)|cell morphogenesis (GO:0000902)|cellular calcium ion homeostasis (GO:0006874)|decidualization (GO:0046697)|gene expression (GO:0010467)|intestinal absorption (GO:0050892)|lactation (GO:0007595)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of calcidiol 1-monooxygenase activity (GO:0060558)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin D receptor signaling pathway (GO:0070561)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcitriol binding (GO:1902098)|calcitriol receptor activity (GO:0008434)|DNA binding (GO:0003677)|lithocholic acid binding (GO:1902121)|lithocholic acid receptor activity (GO:0038186)|retinoid X receptor binding (GO:0046965)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.D299D(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Alfacalcidol(DB01436)|Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	CTTTGGTCACGTCACTGACGC	0.537																																					p.D299D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C897T	12						.						179.0	130.0	147.0					12																	48240450		2203	4300	6503	46526717	SO:0001819	synonymous_variant	7421	exon8			J03258	CCDS8757.1, CCDS55820.1	12q12-q14	2014-06-13				ENSG00000111424		"""Nuclear hormone receptors"""	12679	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 163"""	601769				1662663	Standard	NM_001017536		Approved	NR1I1, PPP1R163	uc001rql.3	P11473		ENST00000395324.2:c.897C>T	12.37:g.48240450G>A			46526717	NM_000376	B2R5Q1|G3V1V9|Q5PSV3	Silent	SNP	ENST00000395324.2	37	CCDS8757.1																																																																																				0.537	VDR-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406433.1		
RND1	27289	broad.mit.edu	37	12	49251877	49251877	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr12:49251877G>A	ENST00000309739.5	-	5	731	c.601C>T	c.(601-603)Cga>Tga	p.R201*		NM_014470.3	NP_055285.1	Q92730	RND1_HUMAN	Rho family GTPase 1	201					actin filament organization (GO:0007015)|axon guidance (GO:0007411)|GTP catabolic process (GO:0006184)|negative regulation of cell adhesion (GO:0007162)|neuron remodeling (GO:0016322)|small GTPase mediated signal transduction (GO:0007264)	adherens junction (GO:0005912)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|receptor binding (GO:0005102)	p.R201*(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1)	10						GAGAGGCTTCGGACAGGGCTC	0.522																																					p.R201X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C601T	12						.						138.0	124.0	129.0					12																	49251877		2203	4300	6503	47538144	SO:0001587	stop_gained	27289	exon5			Y07923	CCDS8771.1	12q12	2008-01-23				ENSG00000172602			18314	protein-coding gene	gene with protein product	"""ras homolog gene family, member S"""	609038				9531558	Standard	NM_014470		Approved	Rho6, ARHS, RHOS	uc001rsn.3	Q92730	OTTHUMG00000170400	ENST00000309739.5:c.601C>T	12.37:g.49251877G>A	ENSP00000308461:p.Arg201*		47538144	NM_014470	A8K9P7	Nonsense_Mutation	SNP	ENST00000309739.5	37	CCDS8771.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.572335	0.45798	.	.	ENSG00000172602	ENST00000550607;ENST00000309739	.	.	.	5.1	3.24	0.37175	.	0.425376	0.25329	N	0.031446	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.3568	11.6654	0.51370	0.0:0.1348:0.725:0.1402	.	.	.	.	X	95;201	.	ENSP00000308461:R201X	R	-	1	2	RND1	47538144	1.000000	0.71417	0.977000	0.42913	0.987000	0.75469	3.641000	0.54360	0.793000	0.33875	-0.273000	0.10243	CGA		0.522	RND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408915.1	NM_014470	
KMT2D	8085	broad.mit.edu	37	12	49424777	49424777	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr12:49424777G>A	ENST00000301067.7	-	40	13569	c.13570C>T	c.(13570-13572)Cgg>Tgg	p.R4524W		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4524					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R4254W(1)									TTCTGTACCCGCTTGGGCTTC	0.572																																					p.R4524W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C13570T	12						.						61.0	65.0	64.0					12																	49424777		2069	4197	6266	47711044	SO:0001583	missense	8085	exon40			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.13570C>T	12.37:g.49424777G>A	ENSP00000301067:p.Arg4524Trp		47711044	NM_003482	O14687	Missense_Mutation	SNP	ENST00000301067.7	37	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	9.183	1.024122	0.19433	.	.	ENSG00000167548	ENST00000301067	D	0.84944	-1.92	5.51	1.28	0.21552	.	0.000000	0.35013	N	0.003501	D	0.87063	0.6084	L	0.29908	0.895	0.52099	D	0.999943	D	0.89917	1.0	D	0.91635	0.999	D	0.87288	0.2297	10	0.87932	D	0	.	15.0789	0.72099	0.0:0.0:0.4262:0.5738	.	4524	O14686	MLL2_HUMAN	W	4524	ENSP00000301067:R4524W	ENSP00000301067:R4524W	R	-	1	2	MLL2	47711044	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.806000	0.47947	0.356000	0.24157	-0.314000	0.08810	CGG		0.572	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2		
LIMA1	51474	broad.mit.edu	37	12	50615893	50615893	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr12:50615893T>C	ENST00000341247.4	-	4	690	c.541A>G	c.(541-543)Aca>Gca	p.T181A	LIMA1_ENST00000552783.1_Missense_Mutation_p.T21A|LIMA1_ENST00000394943.3_Missense_Mutation_p.T181A|LIMA1_ENST00000552909.1_Missense_Mutation_p.T21A|LIMA1_ENST00000552823.1_Missense_Mutation_p.T21A|LIMA1_ENST00000552008.1_5'Flank|RP3-405J10.4_ENST00000551284.1_RNA	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	181					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)	p.T181A(1)		NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						GAAGCATCTGTGTTTTCACTG	0.373																																					p.T181A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A541G	12						.						197.0	197.0	197.0					12																	50615893		2203	4300	6503	48902160	SO:0001583	missense	51474	exon4			AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"""epithelial protein lost in neoplasm beta"""	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.541A>G	12.37:g.50615893T>C	ENSP00000340184:p.Thr181Ala		48902160	NM_001113546	B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Missense_Mutation	SNP	ENST00000341247.4	37	CCDS8802.1	.	.	.	.	.	.	.	.	.	.	T	11.67	1.707137	0.30232	.	.	ENSG00000050405	ENST00000552823;ENST00000394943;ENST00000341247;ENST00000552783;ENST00000552909;ENST00000420992	T;D;T;T;T	0.83755	-1.39;-1.76;-1.03;-1.39;-1.39	6.17	-5.49	0.02584	.	0.994677	0.08175	N	0.986351	T	0.62502	0.2433	N	0.20685	0.6	0.09310	N	1	B;B;B	0.11235	0.001;0.001;0.004	B;B;B	0.11329	0.001;0.001;0.006	T	0.47086	-0.9144	10	0.25751	T	0.34	.	2.0746	0.03621	0.2507:0.1381:0.4319:0.1793	.	190;181;21	Q59FE8;Q9UHB6;F8VQE1	.;LIMA1_HUMAN;.	A	21;181;181;21;21;100	ENSP00000450266:T21A;ENSP00000378400:T181A;ENSP00000340184:T181A;ENSP00000448779:T21A;ENSP00000450087:T21A	ENSP00000340184:T181A	T	-	1	0	LIMA1	48902160	0.061000	0.20836	0.413000	0.26509	0.910000	0.53928	-1.304000	0.02741	-0.389000	0.07786	0.533000	0.62120	ACA		0.373	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406235.2	NM_016357	
KRT78	196374	broad.mit.edu	37	12	53238406	53238406	+	Silent	SNP	G	G	A	rs200355330	byFrequency	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr12:53238406G>A	ENST00000304620.4	-	5	921	c.858C>T	c.(856-858)cgC>cgT	p.R286R	KRT78_ENST00000359499.4_Silent_p.R176R	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	286	Coil 2.|Rod.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.R286R(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CGTACCGGGCGCGGACCTCAG	0.632													G|||	2	0.000399361	0.0008	0.0	5008	,	,		19481	0.0		0.001	False		,,,				2504	0.0				p.R286R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C858T	12						.	G		1,4405	2.1+/-5.4	0,1,2202	117.0	90.0	99.0		858	-10.2	0.0	12		99	0,8600		0,0,4300	no	coding-synonymous	KRT78	NM_173352.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		286/521	53238406	1,13005	2203	4300	6503	51524673	SO:0001819	synonymous_variant	196374	exon5			AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.858C>T	12.37:g.53238406G>A			51524673	NM_173352	A8K4D6|Q5HYM7|Q7RTT2	Silent	SNP	ENST00000304620.4	37	CCDS8840.1																																																																																				0.632	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406380.1	NM_173352	
AMHR2	269	broad.mit.edu	37	12	53818998	53818998	+	Silent	SNP	C	C	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr12:53818998C>G	ENST00000257863.4	+	4	554	c.474C>G	c.(472-474)ctC>ctG	p.L158L	AMHR2_ENST00000550311.1_Silent_p.L158L|AMHR2_ENST00000379791.3_Silent_p.L158L	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	158					Mullerian duct regression (GO:0001880)|negative regulation of anti-Mullerian hormone signaling pathway (GO:1902613)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	integral component of plasma membrane (GO:0005887)	anti-Mullerian hormone receptor activity (GO:1990272)|ATP binding (GO:0005524)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor activity, type II (GO:0005026)	p.L158L(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	TCCTCCTCCTCCTGCTGCTGC	0.582																																					p.L158L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C474G	12						.						185.0	142.0	157.0					12																	53818998		2203	4300	6503	52105265	SO:0001819	synonymous_variant	269	exon4			AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14							465	protein-coding gene	gene with protein product	"""Muellerian inhibiting substance type II receptor"""	600956				7493017	Standard	NM_001164690		Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000257863.4:c.474C>G	12.37:g.53818998C>G			52105265	NM_001164691	A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Silent	SNP	ENST00000257863.4	37	CCDS8858.1																																																																																				0.582	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407048.1	NM_020547	
NFE2	4778	broad.mit.edu	37	12	54686963	54686963	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr12:54686963A>C	ENST00000540264.2	-	2	826	c.317T>G	c.(316-318)gTc>gGc	p.V106G	NFE2_ENST00000312156.4_Missense_Mutation_p.V106G|RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000435572.2_Missense_Mutation_p.V106G|NFE2_ENST00000553070.1_Missense_Mutation_p.V106G			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	106	Transactivation domain.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|hemostasis (GO:0007599)|labyrinthine layer blood vessel development (GO:0060716)|multicellular organismal development (GO:0007275)|negative regulation of bone mineralization (GO:0030502)|negative regulation of syncytium formation by plasma membrane fusion (GO:0034242)|nucleosome disassembly (GO:0006337)|positive regulation of peptidyl-lysine acetylation (GO:2000758)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|WW domain binding (GO:0050699)	p.V106G(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						TGGCTTGGAGACTGGTATGGC	0.592																																					p.V106G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T317G	12						.						109.0	114.0	113.0					12																	54686963		2203	4300	6503	52973230	SO:0001583	missense	4778	exon3			BC005044	CCDS8876.1	12q13	2013-08-23	2013-08-23			ENSG00000123405		"""basic leucine zipper proteins"""	7780	protein-coding gene	gene with protein product		601490	"""nuclear factor (erythroid-derived 2), 45kD"", ""nuclear factor (erythroid-derived 2), 45kDa"""			8355703	Standard	NM_001136023		Approved	NF-E2	uc001sfr.5	Q16621		ENST00000540264.2:c.317T>G	12.37:g.54686963A>C	ENSP00000439120:p.Val106Gly		52973230	NM_001136023	Q07720|Q6ICV9	Missense_Mutation	SNP	ENST00000540264.2	37	CCDS8876.1	.	.	.	.	.	.	.	.	.	.	A	14.31	2.498066	0.44455	.	.	ENSG00000123405	ENST00000312156;ENST00000435572;ENST00000540264;ENST00000553070;ENST00000553198	.	.	.	5.1	3.95	0.45737	.	0.833874	0.10845	N	0.627833	T	0.47691	0.1459	L	0.36672	1.1	0.49582	D	0.999804	B	0.27823	0.19	B	0.30029	0.11	T	0.25117	-1.0141	9	0.30078	T	0.28	-16.5534	9.4402	0.38664	0.9157:0.0:0.0843:0.0	.	106	Q16621	NFE2_HUMAN	G	106	.	ENSP00000312436:V106G	V	-	2	0	NFE2	52973230	0.998000	0.40836	1.000000	0.80357	0.978000	0.69477	1.427000	0.34881	1.070000	0.40811	0.533000	0.62120	GTC		0.592	NFE2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405747.1	NM_006163	
MYL6B	140465	broad.mit.edu	37	12	56549212	56549212	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr12:56549212C>T	ENST00000553066.1	+	5	778	c.356C>T	c.(355-357)tCg>tTg	p.S119L	MYL6B_ENST00000550152.1_3'UTR|MYL6_ENST00000548400.1_5'Flank|MYL6_ENST00000549017.1_5'Flank|RP11-603J24.14_ENST00000548731.1_RNA|MYL6_ENST00000547649.1_5'Flank|MYL6_ENST00000548580.1_5'Flank|MYL6B_ENST00000207437.5_Missense_Mutation_p.S119L|MYL6_ENST00000551589.1_5'Flank|MYL6_ENST00000549566.1_5'Flank|MYL6B_ENST00000550443.1_Missense_Mutation_p.S119L|MYL6B_ENST00000552568.1_Missense_Mutation_p.S119L|MYL6_ENST00000293422.5_5'Flank|MYL6_ENST00000547408.1_5'Flank|MYL6_ENST00000536128.1_5'Flank|MYL6_ENST00000550697.1_5'Flank|MYL6_ENST00000548293.1_5'Flank|MYL6_ENST00000348108.4_5'Flank			P14649	MYL6B_HUMAN	myosin, light chain 6B, alkali, smooth muscle and non-muscle	119					metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle tissue development (GO:0007519)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|unconventional myosin complex (GO:0016461)	calcium ion binding (GO:0005509)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)	p.S119L(1)		endometrium(2)|kidney(1)|large_intestine(4)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			GAGCTGAAGTCGCGGCGTGTG	0.527																																					p.S119L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C356T	12						.						96.0	94.0	95.0					12																	56549212		2203	4300	6503	54835479	SO:0001583	missense	140465	exon5			M31211	CCDS8905.1	12q13.2	2013-01-10	2006-09-29			ENSG00000196465		"""Myosins / Light chain"", ""EF-hand domain containing"""	29823	protein-coding gene	gene with protein product	"""myosin light chain 1 slow a"""	609930	"""myosin, light polypeptide 6B, alkali, smooth muscle and non-muscle"""			2602161, 2304459	Standard	NM_002475		Approved	MLC1SA	uc001sjs.3	P14649		ENST00000553066.1:c.356C>T	12.37:g.56549212C>T	ENSP00000450385:p.Ser119Leu		54835479	NM_001199629		Missense_Mutation	SNP	ENST00000553066.1	37	CCDS8905.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.321705	0.23994	.	.	ENSG00000196465	ENST00000553066;ENST00000550443;ENST00000207437;ENST00000552568	T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46	4.69	4.69	0.59074	EF-hand-like domain (1);	1.038110	0.07533	N	0.912516	T	0.78342	0.4268	L	0.55743	1.74	0.33221	D	0.554693	B;B	0.32620	0.378;0.001	B;B	0.25140	0.058;0.001	T	0.74954	-0.3488	10	0.36615	T	0.2	-14.9302	16.9235	0.86169	0.0:1.0:0.0:0.0	.	119;119	B4E368;P14649	.;MYL6B_HUMAN	L	119	ENSP00000450385:S119L;ENSP00000446643:S119L;ENSP00000207437:S119L;ENSP00000446965:S119L	ENSP00000207437:S119L	S	+	2	0	MYL6B	54835479	0.003000	0.15002	1.000000	0.80357	0.675000	0.39556	0.365000	0.20348	2.625000	0.88918	0.313000	0.20887	TCG		0.527	MYL6B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407920.2	NM_002475	
GPR182	11318	broad.mit.edu	37	12	57389976	57389976	+	Missense_Mutation	SNP	G	G	A	rs142483692	byFrequency	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr12:57389976G>A	ENST00000300098.1	+	2	1202	c.983G>A	c.(982-984)cGg>cAg	p.R328Q	RP11-474N8.5_ENST00000556850.1_RNA|HBCBP_ENST00000600202.1_5'Flank	NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182	328					cell surface receptor signaling pathway (GO:0007166)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)	p.R328Q(1)		endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						CCACACTTCCGGGGCCGGCTC	0.537																																					p.R328Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G983A	12						.	G	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	151.0	147.0	149.0		983	1.9	0.9	12	dbSNP_134	149	1,8599	1.2+/-3.3	0,1,4299	no	missense	GPR182	NM_007264.3	43	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	possibly-damaging	328/405	57389976	3,13003	2203	4300	6503	55676243	SO:0001583	missense	11318	exon2			Y13583	CCDS8927.1	12q13.3	2012-08-21	2007-09-24	2007-09-24		ENSG00000166856		"""GPCR / Class A : Orphans"""	13708	protein-coding gene	gene with protein product		605307	"""adrenomedullin receptor"""	ADMR		9367907, 9535752	Standard	NM_007264		Approved	hrhAMR, G10D, AM-R	uc001smk.3	O15218		ENST00000300098.1:c.983G>A	12.37:g.57389976G>A	ENSP00000300098:p.Arg328Gln		55676243	NM_007264		Missense_Mutation	SNP	ENST00000300098.1	37	CCDS8927.1	.	.	.	.	.	.	.	.	.	.	G	10.64	1.405886	0.25378	4.54E-4	1.16E-4	ENSG00000166856	ENST00000300098	T	0.57273	0.41	4.66	1.85	0.25348	.	0.347830	0.26404	N	0.024566	T	0.35189	0.0923	L	0.34521	1.04	0.35642	D	0.811058	B	0.28820	0.224	B	0.19148	0.024	T	0.33497	-0.9866	10	0.62326	D	0.03	.	6.8572	0.24048	0.374:0.0:0.6259:0.0	.	328	O15218	GP182_HUMAN	Q	328	ENSP00000300098:R328Q	ENSP00000300098:R328Q	R	+	2	0	GPR182	55676243	0.969000	0.33509	0.899000	0.35326	0.408000	0.30992	1.747000	0.38298	0.291000	0.22468	-0.291000	0.09656	CGG		0.537	GPR182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411212.1	NM_007264	
MYO1A	4640	broad.mit.edu	37	12	57430125	57430125	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr12:57430125G>A	ENST00000442789.2	-	23	2602	c.2315C>T	c.(2314-2316)gCc>gTc	p.A772V	MYO1A_ENST00000544473.1_Missense_Mutation_p.A610V|MYO1A_ENST00000476795.1_5'Flank|MYO1A_ENST00000300119.3_Missense_Mutation_p.A772V	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	772	IQ 3. {ECO:0000255|PROSITE- ProRule:PRU00116}.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.A772V(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CAAGGTGAGGGCAGCCTCTGA	0.498																																					p.A772V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2315T	12						.						153.0	150.0	151.0					12																	57430125		2203	4300	6503	55716392	SO:0001583	missense	4640	exon22			L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"""Myosins / Myosin superfamily : Class I"""	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.2315C>T	12.37:g.57430125G>A	ENSP00000393392:p.Ala772Val		55716392	NM_005379	Q9UQD7	Missense_Mutation	SNP	ENST00000442789.2	37	CCDS8929.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.971884	0.34754	.	.	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000544473	D;D;D	0.88277	-2.28;-2.28;-2.36	4.79	3.88	0.44766	.	0.493565	0.21989	N	0.066186	T	0.76478	0.3993	N	0.08118	0	0.32773	N	0.503548	B	0.17038	0.02	B	0.16722	0.016	T	0.74402	-0.3677	10	0.30078	T	0.28	.	10.5403	0.45029	0.0:0.2201:0.7799:0.0	.	772	Q9UBC5	MYO1A_HUMAN	V	772;772;610	ENSP00000300119:A772V;ENSP00000393392:A772V;ENSP00000440514:A610V	ENSP00000300119:A772V	A	-	2	0	MYO1A	55716392	0.184000	0.23200	0.898000	0.35279	0.759000	0.43091	1.925000	0.40074	1.205000	0.43262	0.563000	0.77884	GCC		0.498	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379	
LRP1	4035	broad.mit.edu	37	12	57550570	57550570	+	Silent	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr12:57550570T>C	ENST00000243077.3	+	10	1894	c.1428T>C	c.(1426-1428)caT>caC	p.H476H		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	476	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.H476H(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGAGGAGCCATGCCTGTGAAA	0.632																																					p.H476H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1428C	12						.						43.0	39.0	41.0					12																	57550570		2203	4300	6503	55836837	SO:0001819	synonymous_variant	4035	exon10			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.1428T>C	12.37:g.57550570T>C			55836837	NM_002332	Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	CCDS8932.1																																																																																				0.632	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332	
GLI1	2735	broad.mit.edu	37	12	57864569	57864569	+	Silent	SNP	C	C	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr12:57864569C>A	ENST00000228682.2	+	12	2137	c.2046C>A	c.(2044-2046)acC>acA	p.T682T	GLI1_ENST00000546141.1_Silent_p.T641T|GLI1_ENST00000543426.1_Silent_p.T554T	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	682					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)	p.T682T(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			ACCTCCCAACCTCTGTCTACT	0.577																																					p.T554T	Pancreas(157;841 1936 10503 41495 50368)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1662A	12						.						42.0	43.0	43.0					12																	57864569		2203	4300	6503	56150836	SO:0001819	synonymous_variant	2735	exon10				CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.2046C>A	12.37:g.57864569C>A			56150836	NM_001160045	D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Silent	SNP	ENST00000228682.2	37	CCDS8940.1																																																																																				0.577	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269	
TSFM	10102	broad.mit.edu	37	12	58180824	58180824	+	Splice_Site	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr12:58180824T>C	ENST00000550559.1	+	4	377	c.362T>C	c.(361-363)gTa>gCa	p.V121A	TSFM_ENST00000548851.1_Splice_Site_p.V121A|RP11-571M6.15_ENST00000471530.1_3'UTR|TSFM_ENST00000543727.1_Splice_Site_p.V121A|TSFM_ENST00000454289.3_Splice_Site_p.V121A|TSFM_ENST00000350762.5_Splice_Site_p.V81A|TSFM_ENST00000323833.8_Splice_Site_p.V121A|TSFM_ENST00000497617.1_3'UTR|TSFM_ENST00000540550.1_Splice_Site_p.V121A					Ts translation elongation factor, mitochondrial									p.V121A(1)		endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)	8	all_cancers(7;6.31e-80)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					TTCCCACAGGTAAACTGTGAG	0.363																																					p.V121A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T362C	12						.						43.0	44.0	44.0					12																	58180824		2201	4299	6500	56467091	SO:0001630	splice_region_variant	10102	exon4			L37936	CCDS8958.2, CCDS53809.1, CCDS53810.1, CCDS53811.1	12q14.1	2006-06-10			ENSG00000123297	ENSG00000123297			12367	protein-coding gene	gene with protein product		604723				7615523	Standard	NM_005726		Approved	EF-Tsmt, EF-TS	uc001sqh.3	P43897	OTTHUMG00000153042	ENST00000550559.1:c.361-1T>C	12.37:g.58180824T>C			56467091	NM_001172695		Missense_Mutation	SNP	ENST00000550559.1	37		.	.	.	.	.	.	.	.	.	.	T	24.5	4.535296	0.85812	.	.	ENSG00000123297	ENST00000454289;ENST00000543727;ENST00000540550;ENST00000323833;ENST00000350762;ENST00000550559;ENST00000548851;ENST00000434359;ENST00000457189	D;D;D;D;D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54	5.2	5.2	0.72013	Translation elongation factor Ts, conserved site (1);Translation elongation factor EFTs/EF1B, dimerisation (3);	0.000000	0.85682	D	0.000000	D	0.91338	0.7268	M	0.93062	3.375	0.54753	D	0.999988	D;D;D;D	0.76494	0.999;0.999;0.999;0.997	D;D;D;D	0.81914	0.992;0.99;0.995;0.979	D	0.93098	0.6506	10	0.87932	D	0	.	12.8551	0.57880	0.0:0.0:0.0:1.0	.	121;81;121;121	B4E391;F8W6R3;P43897;P43897-2	.;.;EFTS_HUMAN;.	A	121;121;121;121;81;121;121;71;71	ENSP00000388330:V121A;ENSP00000439342:V121A;ENSP00000440987:V121A;ENSP00000313877:V121A;ENSP00000242983:V81A;ENSP00000448575:V121A;ENSP00000450041:V121A;ENSP00000390679:V71A;ENSP00000389162:V71A	ENSP00000313877:V121A	V	+	2	0	TSFM	56467091	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.346000	0.72999	2.075000	0.62263	0.533000	0.62120	GTA		0.363	TSFM-008	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000409343.1	NM_005726	Missense_Mutation
PPM1H	57460	broad.mit.edu	37	12	63060961	63060961	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr12:63060961T>C	ENST00000228705.6	-	9	1694	c.1394A>G	c.(1393-1395)cAc>cGc	p.H465R	PPM1H_ENST00000551214.1_5'UTR	NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	465	PP2C-like.						phosphoprotein phosphatase activity (GO:0004721)	p.H465R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		CACAAACCTGTGAGGATCATC	0.388																																					p.H465R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1394G	12						.						98.0	99.0	99.0					12																	63060961		1926	4141	6067	61347228	SO:0001583	missense	57460	exon9			AB032983	CCDS44934.1	12q14.1	2012-04-17	2010-03-05	2004-03-26	ENSG00000111110	ENSG00000111110	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	18583	protein-coding gene	gene with protein product	"""neurite extension-related protein phosphatase related to PP2C"""		"""ras homolog gene family, member C like 1"", ""protein phosphatase 1H (PP2C domain containing)"""	ARHCL1			Standard	NM_020700		Approved	KIAA1157, FLJ13253, NERPP-2C	uc001srk.3	Q9ULR3	OTTHUMG00000169990	ENST00000228705.6:c.1394A>G	12.37:g.63060961T>C	ENSP00000228705:p.His465Arg		61347228	NM_020700	B1Q2A9|B2RXG4|Q6PI86	Missense_Mutation	SNP	ENST00000228705.6	37	CCDS44934.1	.	.	.	.	.	.	.	.	.	.	T	14.06	2.422675	0.43020	.	.	ENSG00000111110	ENST00000228705	T	0.21932	1.98	5.8	5.8	0.92144	Protein phosphatase 2C-like (4);	0.046598	0.85682	D	0.000000	T	0.17534	0.0421	L	0.31664	0.95	0.58432	D	0.999999	B	0.09022	0.002	B	0.15052	0.012	T	0.06250	-1.0837	9	.	.	.	.	16.1475	0.81580	0.0:0.0:0.0:1.0	.	465	Q9ULR3	PPM1H_HUMAN	R	465	ENSP00000228705:H465R	.	H	-	2	0	PPM1H	61347228	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	4.549000	0.60726	2.213000	0.71641	0.528000	0.53228	CAC		0.388	PPM1H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406760.2	NM_020700	
DPY19L2	283417	broad.mit.edu	37	12	63954369	63954369	+	Missense_Mutation	SNP	C	C	T	rs201845477		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr12:63954369C>T	ENST00000324472.4	-	22	2383	c.2200G>A	c.(2200-2202)Gtc>Atc	p.V734I	DPY19L2_ENST00000413230.2_Missense_Mutation_p.V181I	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	734					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)	p.V734I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		TCGAGCAGGACGCTACATAAG	0.433													c|||	1	0.000199681	0.0	0.0	5008	,	,		16402	0.0		0.001	False		,,,				2504	0.0				p.V734I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2200A	12						.						87.0	76.0	80.0					12																	63954369		2203	4300	6503	62240636	SO:0001583	missense	283417	exon22				CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"""spermatogenesis associated 34"""	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.2200G>A	12.37:g.63954369C>T	ENSP00000315988:p.Val734Ile		62240636	NM_173812	A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	ENST00000324472.4	37	CCDS31851.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	3.877	-0.026678	0.07589	.	.	ENSG00000177990	ENST00000324472;ENST00000413230	T;T	0.54866	0.55;0.55	3.0	-1.1	0.09872	.	0.773939	0.12602	N	0.454616	T	0.27063	0.0663	N	0.12182	0.205	0.19300	N	0.99997	B	0.13145	0.007	B	0.09377	0.004	T	0.17684	-1.0361	9	.	.	.	.	6.357	0.21406	0.0:0.4415:0.0:0.5585	.	734	Q6NUT2	D19L2_HUMAN	I	734;181	ENSP00000315988:V734I;ENSP00000439794:V181I	.	V	-	1	0	DPY19L2	62240636	0.003000	0.15002	0.843000	0.33291	0.255000	0.26057	-0.323000	0.07997	-0.134000	0.11516	0.162000	0.16502	GTC		0.433	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812	
LRRC10	376132	broad.mit.edu	37	12	70003877	70003877	+	Missense_Mutation	SNP	C	C	T	rs373847240		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr12:70003877C>T	ENST00000361484.3	-	1	1065	c.742G>A	c.(742-744)Gac>Aac	p.D248N		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	248					cardiac muscle cell development (GO:0055013)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sarcomere (GO:0030017)		p.D248N(1)		large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TTTCTAGGGTCGGGCTCTGGC	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		19837	0.0		0.0	False		,,,				2504	0.001				p.D248N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G742A	12						.	C	ASN/ASP	0,4406		0,0,2203	96.0	80.0	86.0		742	3.7	1.0	12		86	1,8599	1.2+/-3.3	0,1,4299	no	missense	LRRC10	NM_201550.2	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	248/278	70003877	1,13005	2203	4300	6503	68290144	SO:0001583	missense	376132	exon1			AK095935	CCDS31856.1	12q15	2009-09-08				ENSG00000198812			20264	protein-coding gene	gene with protein product		610846				14751244	Standard	NM_201550		Approved	HRLRRP, LRRC10A	uc001svc.3	Q5BKY1		ENST00000361484.3:c.742G>A	12.37:g.70003877C>T	ENSP00000355166:p.Asp248Asn		68290144	NM_201550	Q6ZVY4	Missense_Mutation	SNP	ENST00000361484.3	37	CCDS31856.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.209351	0.39003	0.0	1.16E-4	ENSG00000198812	ENST00000361484	T	0.56611	0.45	5.63	3.69	0.42338	.	0.461225	0.26029	N	0.026772	T	0.38532	0.1044	L	0.44542	1.39	0.29690	N	0.840995	B	0.15719	0.014	B	0.08055	0.003	T	0.22695	-1.0209	10	0.17832	T	0.49	.	7.3461	0.26664	0.0:0.7409:0.1695:0.0896	.	248	Q5BKY1	LRC10_HUMAN	N	248	ENSP00000355166:D248N	ENSP00000355166:D248N	D	-	1	0	LRRC10	68290144	.	.	0.975000	0.42487	0.911000	0.54048	.	.	1.513000	0.48852	0.561000	0.74099	GAC		0.587	LRRC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403834.1	NM_201550	
PPP1R12A	4659	broad.mit.edu	37	12	80202304	80202304	+	Silent	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr12:80202304T>C	ENST00000450142.2	-	11	1775	c.1509A>G	c.(1507-1509)agA>agG	p.R503R	PPP1R12A_ENST00000437004.2_Silent_p.R503R|AC073569.1_ENST00000598624.1_Intron|PPP1R12A_ENST00000546369.1_Silent_p.R416R|PPP1R12A_ENST00000550107.1_Silent_p.R503R|PPP1R12A_ENST00000261207.5_Silent_p.R503R	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	503					centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)|regulation of nucleocytoplasmic transport (GO:0046822)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|PTW/PP1 phosphatase complex (GO:0072357)	14-3-3 protein binding (GO:0071889)|enzyme inhibitor activity (GO:0004857)|phosphatase regulator activity (GO:0019208)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.R503R(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						TGGCTAGTCGTCTTGGTATTG	0.328																																					p.R416R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1248G	12						.						139.0	137.0	137.0					12																	80202304		1840	4082	5922	78726435	SO:0001819	synonymous_variant	4659	exon11			D87930	CCDS44947.1, CCDS44948.1, CCDS58259.1, CCDS58260.1	12q15-q21	2013-01-18	2011-10-04	2001-08-10	ENSG00000058272	ENSG00000058272		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7618	protein-coding gene	gene with protein product	"""myosin phosphatase-targeting subunit 1"", ""myosin binding subunit"""	602021	"""protein phosphatase 1, regulatory (inhibitor) subunit 12A"""	MYPT1		9286714	Standard	NM_002480		Approved	MBS, M130	uc001syz.3	O14974	OTTHUMG00000170100	ENST00000450142.2:c.1509A>G	12.37:g.80202304T>C			78726435	NM_001143886	B4DZ09|F8VWB4|Q2NKL4|Q569H0|Q86WU3|Q8NFR6|Q9BYH0	Silent	SNP	ENST00000450142.2	37	CCDS44947.1	.	.	.	.	.	.	.	.	.	.	T	10.44	1.350530	0.24512	.	.	ENSG00000058272	ENST00000553081	.	.	.	5.26	1.43	0.22495	.	.	.	.	.	T	0.57330	0.2046	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50311	-0.8843	4	.	.	.	.	8.8818	0.35378	0.0:0.2859:0.0:0.7141	.	.	.	.	G	107	.	.	D	-	2	0	PPP1R12A	78726435	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.617000	0.24359	0.294000	0.22547	0.533000	0.62120	GAC		0.328	PPP1R12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407254.2	NM_002480	
ATP2B1	490	broad.mit.edu	37	12	89998030	89998030	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr12:89998030G>A	ENST00000428670.3	-	16	2992	c.2536C>T	c.(2536-2538)Cga>Tga	p.R846*	ATP2B1_ENST00000359142.3_Nonsense_Mutation_p.R846*|ATP2B1_ENST00000348959.3_Nonsense_Mutation_p.R846*|ATP2B1_ENST00000393164.2_Nonsense_Mutation_p.R589*|ATP2B1_ENST00000261173.2_Nonsense_Mutation_p.R846*			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	846					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.R846*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						TAGACATTTCGTCCCCACATA	0.393																																					p.R846X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2536T	12						.						122.0	114.0	116.0					12																	89998030		2203	4300	6503	88522161	SO:0001587	stop_gained	490	exon15			J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"""ATPases / P-type"""	814	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 1"""	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.2536C>T	12.37:g.89998030G>A	ENSP00000392043:p.Arg846*		88522161	NM_001001323	Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Nonsense_Mutation	SNP	ENST00000428670.3	37	CCDS9035.1	.	.	.	.	.	.	.	.	.	.	G	38	6.669468	0.97751	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670;ENST00000393164	.	.	.	5.75	1.47	0.22746	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.7851	15.4439	0.75213	0.0:0.0:0.4012:0.5988	.	.	.	.	X	846;846;846;846;589	.	ENSP00000261173:R846X	R	-	1	2	ATP2B1	88522161	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.709000	0.47160	0.396000	0.25283	-0.158000	0.13435	CGA		0.393	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	NM_001682	
ATP2B1	490	broad.mit.edu	37	12	90049525	90049525	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr12:90049525G>A	ENST00000428670.3	-	2	595	c.139C>T	c.(139-141)Cga>Tga	p.R47*	ATP2B1_ENST00000359142.3_Nonsense_Mutation_p.R47*|ATP2B1_ENST00000348959.3_Nonsense_Mutation_p.R47*|ATP2B1_ENST00000261173.2_Nonsense_Mutation_p.R47*			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	47					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.R47*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						TGTATTTTTCGTAATGCATCT	0.408																																					p.R47X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C139T	12						.						85.0	84.0	85.0					12																	90049525		2203	4300	6503	88573656	SO:0001587	stop_gained	490	exon1			J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"""ATPases / P-type"""	814	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 1"""	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.139C>T	12.37:g.90049525G>A	ENSP00000392043:p.Arg47*		88573656	NM_001001323	Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Nonsense_Mutation	SNP	ENST00000428670.3	37	CCDS9035.1	.	.	.	.	.	.	.	.	.	.	G	37	6.156602	0.97334	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670;ENST00000551310	.	.	.	5.58	3.69	0.42338	.	0.482891	0.23734	N	0.045092	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.1654	10.3451	0.43901	0.07:0.0:0.7937:0.1362	.	.	.	.	X	47	.	.	R	-	1	2	ATP2B1	88573656	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.198000	0.51035	1.445000	0.47624	0.655000	0.94253	CGA		0.408	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	NM_001682	
USP44	84101	broad.mit.edu	37	12	95927048	95927048	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	T	T	T	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr12:95927048T>C	ENST00000258499.3	-	2	1273	c.985A>G	c.(985-987)Aca>Gca	p.T329A	USP44_ENST00000552440.1_Missense_Mutation_p.T329A|USP44_ENST00000537435.2_Missense_Mutation_p.T329A|USP44_ENST00000393091.2_Missense_Mutation_p.T329A	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	329	USP.				mitotic nuclear division (GO:0007067)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deubiquitination (GO:0016579)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|regulation of spindle checkpoint (GO:0090231)	nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						TATACTACTGTATCTGTGACT	0.388																																					p.T329A												.	.	0			c.A985G	12						.						76.0	66.0	69.0					12																	95927048		2203	4300	6503	94451179	SO:0001583	missense	84101	exon2			AK027434	CCDS9053.1	12q21.33	2005-08-08	2005-08-08			ENSG00000136014		"""Ubiquitin-specific peptidases"""	20064	protein-coding gene	gene with protein product		610993	"""ubiquitin specific protease 44"""			12838346	Standard	NM_001278393		Approved	FLJ14528	uc001teg.3	Q9H0E7		ENST00000258499.3:c.985A>G	12.37:g.95927048T>C	ENSP00000258499:p.Thr329Ala		94451179	NM_001042403	B2RDW3	Missense_Mutation	SNP	ENST00000258499.3	37	CCDS9053.1	.	.	.	.	.	.	.	.	.	.	T	0.019	-1.452773	0.01080	.	.	ENSG00000136014	ENST00000258499;ENST00000393091;ENST00000552440;ENST00000537435	T;T;T;T	0.13538	3.82;3.82;2.58;3.82	4.96	-3.57	0.04612	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.621077	0.14603	N	0.309493	T	0.02193	0.0068	N	0.00563	-1.375	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.42816	-0.9429	10	0.02654	T	1	.	5.9783	0.19393	0.1852:0.4146:0.0:0.4002	.	329	Q9H0E7	UBP44_HUMAN	A	329	ENSP00000258499:T329A;ENSP00000376806:T329A;ENSP00000448670:T329A;ENSP00000442629:T329A	ENSP00000258499:T329A	T	-	1	0	USP44	94451179	0.007000	0.16637	0.002000	0.10522	0.887000	0.51463	0.187000	0.16998	-0.270000	0.09285	0.459000	0.35465	ACA		0.388	USP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408312.1	NM_032147	
HAL	3034	broad.mit.edu	37	12	96386561	96386561	+	Silent	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr12:96386561A>G	ENST00000261208.3	-	9	980	c.612T>C	c.(610-612)ccT>ccC	p.P204P	HAL_ENST00000538703.1_Silent_p.P204P|HAL_ENST00000541929.1_5'UTR|HAL_ENST00000551562.1_5'Flank	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	204					biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	histidine ammonia-lyase activity (GO:0004397)	p.P204P(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	GACACCTCTCAGGACTTAGTG	0.443																																					p.P204P	NSCLC(169;943 2815 23563 30031)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T612C	12						.						197.0	175.0	183.0					12																	96386561		2203	4300	6503	94910692	SO:0001819	synonymous_variant	3034	exon9				CCDS9058.1, CCDS58264.1, CCDS58265.1	12q22-q24.1	1991-07-12				ENSG00000084110	4.3.1.3		4806	protein-coding gene	gene with protein product		609457		HIS			Standard	NM_002108		Approved		uc001tem.2	P42357	OTTHUMG00000170354	ENST00000261208.3:c.612T>C	12.37:g.96386561A>G			94910692	NM_002108	B4DQC1|B4E0V8|F5GXF2|F5H1U5|Q4VB92|Q4VB93	Silent	SNP	ENST00000261208.3	37	CCDS9058.1																																																																																				0.443	HAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408644.1		
DDX54	79039	broad.mit.edu	37	12	113600827	113600827	+	Frame_Shift_Del	DEL	C	C	-	rs114497647	byFrequency	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr12:113600827delC	ENST00000306014.5	-	17	2132	c.2105delG	c.(2104-2106)ggafs	p.G702fs	DDX54_ENST00000549271.1_5'Flank|DDX54_ENST00000314045.7_Frame_Shift_Del_p.G702fs	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	702					ATP catabolic process (GO:0006200)|intracellular estrogen receptor signaling pathway (GO:0030520)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)	p.G702fs*14(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CTCAAAGGCTCCCCCTTCCCC	0.627																																					p.G702fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2105delG	12						.						54.0	51.0	52.0					12																	113600827		2203	4300	6503	112085210	SO:0001589	frameshift_variant	79039	exon17			AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064		"""DEAD-boxes"""	20084	protein-coding gene	gene with protein product		611665				12466272	Standard	NM_001111322		Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000306014.5:c.2105delG	12.37:g.113600827delC	ENSP00000304072:p.Gly702fs		112085210	NM_024072	Q86YT8|Q9BRZ1	Frame_Shift_Del	DEL	ENST00000306014.5	37	CCDS31907.1																																																																																				0.627	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405435.1	NM_024072	
ZNF26	7574	broad.mit.edu	37	12	133583719	133583719	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr12:133583719T>C	ENST00000328654.5	+	2	502	c.125T>C	c.(124-126)gTg>gCg	p.V42A	ZNF26_ENST00000534834.1_Missense_Mutation_p.V22A	NM_019591.3	NP_062537.2	P17031	ZNF26_HUMAN	zinc finger protein 26	42	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V42A(1)		autonomic_ganglia(1)|large_intestine(7)|lung(2)|prostate(1)|skin(2)	13	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.24e-11)|all_epithelial(31;1.21e-08)|Lung NSC(355;0.000431)		OV - Ovarian serous cystadenocarcinoma(86;9.53e-09)|Epithelial(86;2.63e-07)|all cancers(50;1.14e-05)		TACAGAGATGTGATATTGGAA	0.368																																					p.V42A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T125C	12						.						1.0	1.0	1.0					12																	133583719		1	1	2	132093792	SO:0001583	missense	7574	exon2			X52351	CCDS31939.1	12q24.33	2013-01-08	2006-05-10		ENSG00000198393	ENSG00000198393		"""Zinc fingers, C2H2-type"", ""-"""	13053	protein-coding gene	gene with protein product		194537	"""zinc finger protein 26 (KOX 20)"""				Standard	NM_001256279		Approved	KOX20, FLJ20755	uc031qkj.1	P17031	OTTHUMG00000167936	ENST00000328654.5:c.125T>C	12.37:g.133583719T>C	ENSP00000333725:p.Val42Ala		132093792	NM_019591	Q86X57|Q9NWL3	Missense_Mutation	SNP	ENST00000328654.5	37	CCDS31939.1	.	.	.	.	.	.	.	.	.	.	T	15.22	2.768096	0.49680	.	.	ENSG00000198393	ENST00000540238;ENST00000328654;ENST00000544181;ENST00000534834	T;T;T;T	0.03951	3.75;3.75;3.75;3.75	3.4	3.4	0.38934	Krueppel-associated box (4);	.	.	.	.	T	0.28200	0.0696	H	0.94462	3.54	0.29546	N	0.851746	D	0.69078	0.997	D	0.76071	0.987	T	0.21348	-1.0248	9	0.87932	D	0	.	10.1104	0.42559	0.0:0.0:0.0:1.0	.	42	P17031	ZNF26_HUMAN	A	42;42;75;22	ENSP00000443888:V42A;ENSP00000333725:V42A;ENSP00000445494:V75A;ENSP00000437420:V22A	ENSP00000333725:V42A	V	+	2	0	ZNF26	132093792	1.000000	0.71417	0.885000	0.34714	0.472000	0.32918	3.783000	0.55409	1.549000	0.49425	0.477000	0.44152	GTG		0.368	ZNF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397145.2	NM_019591	
ARHGEF7	8874	broad.mit.edu	37	13	111896291	111896291	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr13:111896291C>T	ENST00000375741.2	+	8	1145	c.895C>T	c.(895-897)Cgg>Tgg	p.R299W	ARHGEF7_ENST00000426073.2_Missense_Mutation_p.R121W|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.R121W|ARHGEF7_ENST00000478679.1_Missense_Mutation_p.R43W|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.R196W|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.R206W|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.R121W|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.R121W|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.R249W|ARHGEF7_ENST00000544132.1_Intron|ARHGEF7_ENST00000483189.1_3'UTR|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.R278W	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	299	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R278W(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			AACGTACCTACGGCCATTGCA	0.318																																					p.R249W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C745T	13						.						50.0	50.0	50.0					13																	111896291		2203	4298	6501	110694292	SO:0001583	missense	8874	exon6			D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15607	protein-coding gene	gene with protein product	"""SH3 domain-containing proline-rich protein"", ""PAK-interacting exchange factor beta"", ""rho"", ""guanine nucleotide exchange factor 7"""	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.895C>T	13.37:g.111896291C>T	ENSP00000364893:p.Arg299Trp		110694292	NM_001113512	B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Missense_Mutation	SNP	ENST00000375741.2	37	CCDS45068.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.795526	0.50208	.	.	ENSG00000102606	ENST00000317133;ENST00000375741;ENST00000375739;ENST00000370623;ENST00000545635;ENST00000466143;ENST00000218789;ENST00000375736;ENST00000426073;ENST00000375737;ENST00000375723;ENST00000478679	T;T;T;T;T;T;T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14	4.82	3.96	0.45880	Dbl homology (DH) domain (5);	0.064576	0.64402	N	0.000005	T	0.67192	0.2867	M	0.76574	2.34	0.80722	D	1	B;P;B;B;B;B	0.38223	0.012;0.623;0.012;0.014;0.294;0.032	B;B;B;B;B;B	0.43360	0.005;0.417;0.005;0.007;0.045;0.016	T	0.70171	-0.4945	10	0.62326	D	0.03	.	13.0543	0.58971	0.0:0.919:0.0:0.0809	.	43;196;43;249;299;278	E9PDQ5;B7Z6G2;B7Z344;Q14155-2;Q14155;Q14155-3	.;.;.;.;ARHG7_HUMAN;.	W	278;299;249;206;276;121;121;121;121;196;121;43	ENSP00000325994:R278W;ENSP00000364893:R299W;ENSP00000364891:R249W;ENSP00000359657:R206W;ENSP00000418067:R121W;ENSP00000218789:R121W;ENSP00000364888:R121W;ENSP00000397068:R121W;ENSP00000364889:R196W;ENSP00000364875:R121W;ENSP00000417596:R43W	ENSP00000218789:R121W	R	+	1	2	ARHGEF7	110694292	0.997000	0.39634	0.992000	0.48379	0.993000	0.82548	3.612000	0.54142	0.976000	0.38417	0.467000	0.42956	CGG		0.318	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113511	
ARHGEF7	8874	broad.mit.edu	37	13	111944540	111944540	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr13:111944540G>A	ENST00000375741.2	+	20	2523	c.2273G>A	c.(2272-2274)cGt>cAt	p.R758H	ARHGEF7_ENST00000426073.2_Intron|ARHGEF7_ENST00000375736.4_Intron|ARHGEF7_ENST00000478679.1_Missense_Mutation_p.R502H|ARHGEF7_ENST00000375737.5_Intron|ARHGEF7_ENST00000370623.3_Intron|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.R580H|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.R580H|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.R708H|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.R737H	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	758					apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R737H(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TCCCTGGGGCGTCGCAGTAGC	0.532																																					p.R708H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2123A	13						.						132.0	116.0	121.0					13																	111944540		2203	4300	6503	110742541	SO:0001583	missense	8874	exon18			D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15607	protein-coding gene	gene with protein product	"""SH3 domain-containing proline-rich protein"", ""PAK-interacting exchange factor beta"", ""rho"", ""guanine nucleotide exchange factor 7"""	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.2273G>A	13.37:g.111944540G>A	ENSP00000364893:p.Arg758His		110742541	NM_001113512	B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Missense_Mutation	SNP	ENST00000375741.2	37	CCDS45068.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.022956	0.93462	.	.	ENSG00000102606	ENST00000317133;ENST00000375741;ENST00000375739;ENST00000218789;ENST00000375723;ENST00000478679	T;T;T;T;T;T	0.67523	0.36;0.35;0.35;0.52;0.32;-0.27	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.61438	0.2347	N	0.08118	0	0.80722	D	1	D;D;D;D;D	0.76494	0.995;0.992;0.992;0.995;0.999	P;P;P;P;P	0.57152	0.707;0.759;0.759;0.726;0.814	T	0.61148	-0.7121	10	0.19147	T	0.46	.	19.1045	0.93287	0.0:0.0:1.0:0.0	.	502;580;708;758;737	E9PDQ5;Q14155-6;Q14155-2;Q14155;Q14155-3	.;.;.;ARHG7_HUMAN;.	H	737;758;708;580;580;502	ENSP00000325994:R737H;ENSP00000364893:R758H;ENSP00000364891:R708H;ENSP00000218789:R580H;ENSP00000364875:R580H;ENSP00000417596:R502H	ENSP00000218789:R580H	R	+	2	0	ARHGEF7	110742541	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.920000	0.70017	2.510000	0.84645	0.655000	0.94253	CGT		0.532	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113511	
F7	2155	broad.mit.edu	37	13	113765033	113765033	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr13:113765033G>A	ENST00000375581.3	+	3	195	c.160G>A	c.(160-162)Gtc>Atc	p.V54I	F7_ENST00000473085.1_3'UTR|F7_ENST00000346342.3_Missense_Mutation_p.V32I|F7_ENST00000541084.1_Intron	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	54					blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|cellular protein metabolic process (GO:0044267)|circadian rhythm (GO:0007623)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell migration (GO:0030335)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of platelet-derived growth factor receptor signaling pathway (GO:0010641)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to growth hormone (GO:0060416)|response to vitamin K (GO:0032571)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.V54I(1)		large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	AGCCCACGGCGTCCTGCACCG	0.711																																					p.V54I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G160A	13	GRCh37	CM090299	F7	M		.						13.0	13.0	13.0					13																	113765033		2000	3860	5860	112813034	SO:0001583	missense	2155	exon3				CCDS9528.1, CCDS9529.1, CCDS73602.1	13q34	2014-02-03			ENSG00000057593	ENSG00000057593	3.4.21.21		3544	protein-coding gene	gene with protein product	"""eptacog alfa"", ""FVII coagulation protein"", ""factor VII"""	613878				3264725, 2511201	Standard	NM_000131		Approved		uc001vsv.4	P08709	OTTHUMG00000017373	ENST00000375581.3:c.160G>A	13.37:g.113765033G>A	ENSP00000364731:p.Val54Ile		112813034	NM_000131	B0YJC8|Q14339|Q5JVF1|Q5JVF2|Q9UD52|Q9UD53|Q9UD54	Missense_Mutation	SNP	ENST00000375581.3	37	CCDS9528.1	.	.	.	.	.	.	.	.	.	.	g	6.165	0.398675	0.11696	.	.	ENSG00000057593	ENST00000346342;ENST00000375581	D;D	0.92099	-2.97;-2.97	4.47	-2.38	0.06622	Gamma-carboxyglutamic acid-rich (GLA) domain (1);	0.619112	0.15192	N	0.275514	T	0.78097	0.4230	N	0.16656	0.425	0.26623	N	0.972613	B;B	0.29037	0.061;0.231	B;B	0.14023	0.009;0.01	T	0.66642	-0.5872	10	0.36615	T	0.2	.	2.7116	0.05176	0.4207:0.1101:0.3572:0.112	.	32;54	P08709-2;P08709	.;FA7_HUMAN	I	32;54	ENSP00000329546:V32I;ENSP00000364731:V54I	ENSP00000329546:V32I	V	+	1	0	F7	112813034	0.000000	0.05858	0.001000	0.08648	0.040000	0.13550	-0.482000	0.06544	-0.222000	0.09958	0.503000	0.49774	GTC		0.711	F7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045838.4	NM_000131	
GRK1	6011	broad.mit.edu	37	13	114325879	114325879	+	Missense_Mutation	SNP	C	C	T	rs572803634	byFrequency	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr13:114325879C>T	ENST00000335678.6	+	3	1125	c.893C>T	c.(892-894)aCg>aTg	p.T298M		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	298	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		T -> M. {ECO:0000269|PubMed:9268593}.		negative regulation of apoptotic process (GO:0043066)|photoreceptor cell morphogenesis (GO:0008594)|phototransduction, visible light (GO:0007603)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)|rhodopsin kinase activity (GO:0050254)	p.T298M(1)		ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			CTCTTCTACACGGCGCAGATC	0.632													c|||	4	0.000798722	0.0	0.0014	5008	,	,		20021	0.003		0.0	False		,,,				2504	0.0				p.T298M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C893T	13						.						38.0	43.0	42.0					13																	114325879		2062	4203	6265	113373880	SO:0001583	missense	6011	exon3					13q34	2013-09-02	2004-03-23	2004-03-24	ENSG00000185974	ENSG00000185974	2.7.11.14		10013	protein-coding gene	gene with protein product		180381	"""rhodopsin kinase"""	RHOK		8812493, 15057823	Standard	NM_002929		Approved	GPRK1, RK	uc010tkf.2	Q15835	OTTHUMG00000185528	ENST00000335678.6:c.893C>T	13.37:g.114325879C>T	ENSP00000334876:p.Thr298Met		113373880	NM_002929	Q53X14	Missense_Mutation	SNP	ENST00000335678.6	37		.	.	.	.	.	.	.	.	.	.	c	14.31	2.498033	0.44455	.	.	ENSG00000185974	ENST00000335678	T	0.64085	-0.08	4.43	3.29	0.37713	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.224065	0.45867	D	0.000332	T	0.68302	0.2986	.	.	.	0.36088	D	0.84322	D	0.56521	0.976	P	0.56474	0.799	T	0.76222	-0.3038	9	0.87932	D	0	-14.3093	7.8935	0.29693	0.0:0.8345:0.0:0.1655	.	298	Q15835	RK_HUMAN	M	298	ENSP00000334876:T298M	ENSP00000334876:T298M	T	+	2	0	GRK1	113373880	0.019000	0.18553	0.984000	0.44739	0.670000	0.39368	2.143000	0.42187	2.148000	0.66965	0.506000	0.49869	ACG		0.632	GRK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470655.1	NM_002929	
RASA3	22821	broad.mit.edu	37	13	114774873	114774873	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr13:114774873G>A	ENST00000334062.7	-	17	1779	c.1658C>T	c.(1657-1659)gCg>gTg	p.A553V	RASA3_ENST00000389544.4_Missense_Mutation_p.A521V	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	553					calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)	p.A553V(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			GTTCTTCACCGCATCAGCATA	0.463																																					p.A553V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1658T	13						.						121.0	116.0	118.0					13																	114774873		2201	4299	6500	113792975	SO:0001583	missense	22821	exon17				CCDS32016.1	13q34	2013-01-10			ENSG00000185989	ENSG00000185989		"""Pleckstrin homology (PH) domain containing"""	20331	protein-coding gene	gene with protein product		605182				7637787, 9382842	Standard	NM_007368		Approved	GAP1IP4BP, GAPIII	uc001vui.3	Q14644	OTTHUMG00000017399	ENST00000334062.7:c.1658C>T	13.37:g.114774873G>A	ENSP00000335029:p.Ala553Val		113792975	NM_007368	A6NL15|F8W6X8|Q8IUY2	Missense_Mutation	SNP	ENST00000334062.7	37	CCDS32016.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.403381	0.42613	.	.	ENSG00000185989	ENST00000334062;ENST00000389544	T;T	0.17854	2.25;2.25	5.1	5.1	0.69264	Rho GTPase activation protein (1);Ras GTPase-activating protein (2);	0.052258	0.85682	D	0.000000	T	0.16981	0.0408	L	0.53249	1.67	0.80722	D	1	B	0.34226	0.443	B	0.22601	0.04	T	0.03503	-1.1030	9	.	.	.	.	17.2851	0.87139	0.0:0.0:1.0:0.0	.	553	Q14644	RASA3_HUMAN	V	553;521	ENSP00000335029:A553V;ENSP00000374195:A521V	.	A	-	2	0	RASA3	113792975	1.000000	0.71417	0.917000	0.36280	0.018000	0.09664	6.354000	0.73036	2.358000	0.79984	0.561000	0.74099	GCG		0.463	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045957.2	NM_007368	
SKA3	221150	broad.mit.edu	37	13	21742187	21742187	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr13:21742187T>A	ENST00000314759.5	-	4	807	c.683A>T	c.(682-684)tAt>tTt	p.Y228F	SKA3_ENST00000400018.3_Missense_Mutation_p.Y228F	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	228					chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|spindle microtubule (GO:0005876)		p.Y228F(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						ACACATAGTATATTCAGAGAT	0.308																																					p.Y228F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A683T	13						.						112.0	117.0	116.0					13																	21742187		2203	4300	6503	20640187	SO:0001583	missense	221150	exon4			AF361358	CCDS31946.1, CCDS53856.1	13q11	2013-01-17	2009-08-19	2009-08-19	ENSG00000165480	ENSG00000165480			20262	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 3"""	C13orf3		19387489, 19289083, 19646878, 19360002	Standard	NM_145061		Approved	MGC4832, RAMA1	uc001unt.3	Q8IX90	OTTHUMG00000016539	ENST00000314759.5:c.683A>T	13.37:g.21742187T>A	ENSP00000319417:p.Tyr228Phe		20640187	NM_001166017	A2A330|A2A331|B2RBY2|Q5VZV5|Q86WR2|Q8NBG1|Q96D22	Missense_Mutation	SNP	ENST00000314759.5	37	CCDS31946.1	.	.	.	.	.	.	.	.	.	.	T	18.62	3.663633	0.67700	.	.	ENSG00000165480	ENST00000314759;ENST00000400018	T;T	0.24538	1.85;1.85	5.86	4.67	0.58626	.	0.684834	0.15247	N	0.272554	T	0.39332	0.1074	L	0.54323	1.7	0.23555	N	0.997429	D;D	0.63880	0.993;0.993	P;P	0.57776	0.827;0.827	T	0.18618	-1.0331	10	0.66056	D	0.02	-3.188	9.6538	0.39914	0.0:0.0795:0.0:0.9205	.	228;228	Q8IX90-3;Q8IX90	.;SKA3_HUMAN	F	228	ENSP00000319417:Y228F;ENSP00000382896:Y228F	ENSP00000319417:Y228F	Y	-	2	0	SKA3	20640187	1.000000	0.71417	0.798000	0.32154	0.986000	0.74619	2.245000	0.43133	1.038000	0.40049	0.533000	0.62120	TAT		0.308	SKA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000272912.1	NM_145061	
SACS	26278	broad.mit.edu	37	13	23929925	23929925	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr13:23929925G>A	ENST00000382292.3	-	7	1099	c.826C>T	c.(826-828)Cgc>Tgc	p.R276C	SACS_ENST00000382298.3_Missense_Mutation_p.R276C|SACS_ENST00000402364.1_5'UTR|SACS_ENST00000476776.1_5'Flank			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	276					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.R129C(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GGTTGTAGGCGAAGAGGGAAA	0.413																																					p.R276C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C826T	13						.						107.0	102.0	103.0					13																	23929925		2203	4300	6503	22827925	SO:0001583	missense	26278	exon8			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.826C>T	13.37:g.23929925G>A	ENSP00000371729:p.Arg276Cys		22827925	NM_014363	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.1|27.1	4.798990|4.798990	0.90538|0.90538	.|.	.|.	ENSG00000151835|ENSG00000151835	ENST00000382292;ENST00000382298|ENST00000455470	D;D|.	0.96136|.	-3.92;-3.92|.	5.64|5.64	5.64|5.64	0.86602|0.86602	ATPase-like, ATP-binding domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85775|0.85775	0.5775|0.5775	M|M	0.89968|0.89968	3.075|3.075	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;1.0|.	D|D	0.87308|0.87308	0.2310|0.2310	10|5	0.87932|.	D|.	0|.	.|.	20.0769|20.0769	0.97748|0.97748	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	175;63;276|.	B2REB1;E9PAL4;Q9NZJ4|.	.;.;SACS_HUMAN|.	C|L	276|175	ENSP00000371729:R276C;ENSP00000371735:R276C|.	ENSP00000371729:R276C|.	R|S	-|-	1|2	0|0	SACS|SACS	22827925|22827925	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.867000|0.867000	0.49689|0.49689	7.955000|7.955000	0.87856|0.87856	2.820000|2.820000	0.97059|0.97059	0.650000|0.650000	0.86243|0.86243	CGC|TCG		0.413	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363	
SPATA13	221178	broad.mit.edu	37	13	24876751	24876751	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr13:24876751C>A	ENST00000382095.4	+	12	2206	c.1799C>A	c.(1798-1800)cCt>cAt	p.P600H	SPATA13_ENST00000382108.3_Missense_Mutation_p.P1225H|SPATA13_ENST00000343003.6_Missense_Mutation_p.P544H|RP11-307N16.6_ENST00000382141.4_Intron|SPATA13_ENST00000409126.1_Missense_Mutation_p.P460H|SPATA13_ENST00000424834.2_Missense_Mutation_p.P1225H|SPATA13_ENST00000399949.2_Missense_Mutation_p.P522H	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13	600	C-terminal tail.				cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.P600H(1)		breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		AACAGGTGCCCTGTGGCCCCA	0.592																																					p.P1225H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3674A	13						.						80.0	79.0	79.0					13																	24876751		2203	4300	6503	23774751	SO:0001583	missense	221178	exon13			AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.1799C>A	13.37:g.24876751C>A	ENSP00000371527:p.Pro600His		23774751	NM_001166271	A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Missense_Mutation	SNP	ENST00000382095.4	37	CCDS9305.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.818948	0.71028	.	.	ENSG00000182957	ENST00000382108;ENST00000382095;ENST00000434675;ENST00000399949;ENST00000409126;ENST00000343003	T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92	5.83	5.83	0.93111	.	0.315152	0.30584	N	0.009315	T	0.56920	0.2018	L	0.57536	1.79	0.54753	D	0.999986	P;P;P;P;P	0.51933	0.916;0.742;0.949;0.831;0.626	P;P;P;P;B	0.56216	0.738;0.605;0.794;0.482;0.289	T	0.48692	-0.9013	10	0.35671	T	0.21	.	19.1066	0.93299	0.0:1.0:0.0:0.0	.	460;544;484;522;600	E9PFR9;Q96N96-3;Q96N96-5;Q96N96-2;Q96N96	.;.;.;.;SPT13_HUMAN	H	1225;600;498;522;460;544	ENSP00000371542:P1225H;ENSP00000371527:P600H;ENSP00000401605:P498H;ENSP00000382830:P522H;ENSP00000386471:P460H;ENSP00000343631:P544H	ENSP00000343631:P544H	P	+	2	0	SPATA13	23774751	1.000000	0.71417	0.954000	0.39281	0.112000	0.19704	7.047000	0.76599	2.769000	0.95229	0.655000	0.94253	CCT		0.592	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044180.2	NM_153023	
RNF17	56163	broad.mit.edu	37	13	25416286	25416286	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr13:25416286T>A	ENST00000255324.5	+	19	2642	c.2590T>A	c.(2590-2592)Tct>Act	p.S864T	RNF17_ENST00000339524.3_5'Flank|RNF17_ENST00000381921.1_Missense_Mutation_p.S864T	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	864					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.S864T(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GGGCCTAGCATCTTATGAAAT	0.368																																					p.S864T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2590A	13						.						135.0	124.0	128.0					13																	25416286		2203	4300	6503	24314286	SO:0001583	missense	56163	exon19			AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.2590T>A	13.37:g.25416286T>A	ENSP00000255324:p.Ser864Thr		24314286	NM_001184993	Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	T	9.555	1.117007	0.20795	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000418120	T;T;T	0.28069	1.63;1.63;1.63	5.1	5.1	0.69264	Staphylococcal nuclease (SNase-like) (1);	0.348813	0.25030	N	0.033700	T	0.19446	0.0467	L	0.32530	0.975	0.80722	D	1	B;B;B	0.32573	0.134;0.376;0.085	B;B;B	0.29598	0.018;0.104;0.033	T	0.06215	-1.0839	10	0.15499	T	0.54	-17.2164	8.633	0.33930	0.1705:0.0:0.0:0.8295	.	864;864;864	B7Z7S1;Q9BXT8-5;Q9BXT8	.;.;RNF17_HUMAN	T	864;864;723;188	ENSP00000255324:S864T;ENSP00000371346:S864T;ENSP00000388892:S188T	ENSP00000255324:S864T	S	+	1	0	RNF17	24314286	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.249000	0.43169	2.051000	0.60960	0.477000	0.44152	TCT		0.368	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994	
MTMR6	9107	broad.mit.edu	37	13	25827992	25827992	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr13:25827992T>C	ENST00000381801.5	-	11	2017	c.1256A>G	c.(1255-1257)gAa>gGa	p.E419G	MTMR6_ENST00000540661.1_Missense_Mutation_p.E419G	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	419	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|potassium ion transmembrane transport (GO:0071805)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	calcium-activated potassium channel activity (GO:0015269)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)	p.E419G(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		AAGAAATGCTTCACTGAATTC	0.413																																					p.E419G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1256G	13						.						106.0	102.0	103.0					13																	25827992		2203	4300	6503	24725992	SO:0001583	missense	9107	exon11			AF072928	CCDS9313.1	13q12	2011-06-09			ENSG00000139505	ENSG00000139505		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7453	protein-coding gene	gene with protein product		603561				9736772	Standard	NM_004685		Approved		uc001uqf.4	Q9Y217	OTTHUMG00000016606	ENST00000381801.5:c.1256A>G	13.37:g.25827992T>C	ENSP00000371221:p.Glu419Gly		24725992	NM_004685	B2RBB5|B3KSB4|Q5JRG6|Q86TB7|Q86YH4|Q96P80	Missense_Mutation	SNP	ENST00000381801.5	37	CCDS9313.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.880018	0.91740	.	.	ENSG00000139505	ENST00000540661;ENST00000541021;ENST00000381801	D;D	0.91894	-2.93;-2.93	5.86	5.86	0.93980	Myotubularin phosphatase domain (1);	0.087944	0.85682	D	0.000000	D	0.96494	0.8856	M	0.87900	2.915	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.76575	0.953;0.988	D	0.97106	0.9801	10	0.87932	D	0	.	16.2507	0.82485	0.0:0.0:0.0:1.0	.	419;419	Q9Y217;Q9Y217-2	MTMR6_HUMAN;.	G	419	ENSP00000443161:E419G;ENSP00000371221:E419G	ENSP00000371221:E419G	E	-	2	0	MTMR6	24725992	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	7.988000	0.88194	2.237000	0.73441	0.528000	0.53228	GAA		0.413	MTMR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044225.1	NM_004685	
LNX2	222484	broad.mit.edu	37	13	28136818	28136818	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr13:28136818C>T	ENST00000316334.3	-	5	1085	c.956G>A	c.(955-957)cGc>cAc	p.R319H		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	319					protein homooligomerization (GO:0051260)		zinc ion binding (GO:0008270)	p.R319H(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		GTTGCCAAAGCGCCTCTCTCG	0.493																																					p.R319H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G956A	13						.						120.0	114.0	116.0					13																	28136818		2203	4300	6503	27034818	SO:0001583	missense	222484	exon5			AL138699	CCDS9323.1	13q12.2	2013-01-09	2004-01-22	2004-01-23	ENSG00000139517	ENSG00000139517		"""RING-type (C3HC4) zinc fingers"""	20421	protein-coding gene	gene with protein product		609733	"""PDZ domain containing ring finger 1"""	PDZRN1			Standard	NM_153371		Approved	MGC46315	uc001url.4	Q8N448	OTTHUMG00000016634	ENST00000316334.3:c.956G>A	13.37:g.28136818C>T	ENSP00000325929:p.Arg319His		27034818	NM_153371	Q5W0P0|Q6ZMH2|Q96SH4	Missense_Mutation	SNP	ENST00000316334.3	37	CCDS9323.1	.	.	.	.	.	.	.	.	.	.	C	34	5.353020	0.95830	.	.	ENSG00000139517	ENST00000316334	T	0.06294	3.32	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.28234	0.0697	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.66351	0.943	T	0.00234	-1.1893	10	0.46703	T	0.11	.	20.2422	0.98381	0.0:1.0:0.0:0.0	.	319	Q8N448	LNX2_HUMAN	H	319	ENSP00000325929:R319H	ENSP00000325929:R319H	R	-	2	0	LNX2	27034818	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.445000	0.80570	2.782000	0.95742	0.655000	0.94253	CGC		0.493	LNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044302.2		
FLT1	2321	broad.mit.edu	37	13	28885759	28885759	+	Silent	SNP	C	C	T	rs374796929		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr13:28885759C>T	ENST00000282397.4	-	27	3854	c.3603G>A	c.(3601-3603)ccG>ccA	p.P1201P	FLT1_ENST00000540678.1_Silent_p.P419P|FLT1_ENST00000543394.1_Silent_p.P224P	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1201					blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)	p.P1201P(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AATTAAACTTCGGAGCTGAAA	0.373																																					p.P1201P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3603A	13						.	C		0,4406		0,0,2203	78.0	75.0	76.0		3603	-8.8	0.0	13		76	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FLT1	NM_002019.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1201/1339	28885759	1,13005	2203	4300	6503	27783759	SO:0001819	synonymous_variant	2321	exon27			AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.3603G>A	13.37:g.28885759C>T			27783759	NM_002019	A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Silent	SNP	ENST00000282397.4	37	CCDS9330.1																																																																																				0.373	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1		
BRCA2	675	broad.mit.edu	37	13	32906626	32906626	+	Silent	SNP	C	C	T	rs41293473		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr13:32906626C>T	ENST00000380152.3	+	10	1244	c.1011C>T	c.(1009-1011)aaC>aaT	p.N337N	BRCA2_ENST00000544455.1_Silent_p.N337N			P51587	BRCA2_HUMAN	breast cancer 2, early onset	337					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.N337N(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		ATGAAGCAAACGCTGATGAAT	0.284			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			C|||	1	0.000199681	0.0008	0.0	5008	,	,		18289	0.0		0.0	False		,,,				2504	0.0				p.N337N	Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"""L, E"""	.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1011T	13						.						71.0	82.0	79.0					13																	32906626		2202	4300	6502	31804626	SO:0001819	synonymous_variant	675	exon10	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.1011C>T	13.37:g.32906626C>T			31804626	NM_000059	O00183|O15008|Q13879|Q5TBJ7	Silent	SNP	ENST00000380152.3	37	CCDS9344.1																																																																																				0.284	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059	
PDS5B	23047	broad.mit.edu	37	13	33309356	33309356	+	Silent	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr13:33309356A>G	ENST00000315596.10	+	21	2481	c.2295A>G	c.(2293-2295)acA>acG	p.T765T		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	765					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.T765T(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		ATCTCATAACACCATTGGTTA	0.383																																					p.T765T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2295G	13						.						170.0	158.0	162.0					13																	33309356		1917	4125	6042	32207356	SO:0001819	synonymous_variant	23047	exon21			AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"""androgen-induced proliferation inhibitor"""	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.2295A>G	13.37:g.33309356A>G			32207356	NM_015032	Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Silent	SNP	ENST00000315596.10	37	CCDS41878.1																																																																																				0.383	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032	
FOXO1	2308	broad.mit.edu	37	13	41133681	41133681	+	Silent	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr13:41133681T>C	ENST00000379561.5	-	2	2331	c.1947A>G	c.(1945-1947)acA>acG	p.T649T	FOXO1_ENST00000473775.1_5'Flank	NM_002015.3	NP_002006.2	Q12778	FOXO1_HUMAN	forkhead box O1	649					apoptotic process (GO:0006915)|autophagy (GO:0006914)|blood vessel development (GO:0001568)|cellular glucose homeostasis (GO:0001678)|cellular response to cold (GO:0070417)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hyperoxia (GO:0071455)|cellular response to insulin stimulus (GO:0032869)|cellular response to nitric oxide (GO:0071732)|cellular response to oxidative stress (GO:0034599)|cellular response to starvation (GO:0009267)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|fat cell differentiation (GO:0045444)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|regulation of cell proliferation (GO:0042127)|regulation of energy homeostasis (GO:2000505)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|protein phosphatase 2A binding (GO:0051721)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)	p.T649T(1)	PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		CCCAGCTATGTGTCGTTGTCT	0.428																																					p.T649T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1947G	13						.						146.0	126.0	133.0					13																	41133681		2203	4300	6503	40031681	SO:0001819	synonymous_variant	2308	exon2				CCDS9371.1	13q14.1	2011-08-01	2007-05-02	2007-05-02	ENSG00000150907	ENSG00000150907		"""Forkhead boxes"""	3819	protein-coding gene	gene with protein product		136533	"""forkhead homolog in rhabdomyosarcoma"""	FKHR, FOXO1A		8275086, 15057823	Standard	NM_002015		Approved	FKH1	uc001uxl.4	Q12778	OTTHUMG00000016775	ENST00000379561.5:c.1947A>G	13.37:g.41133681T>C			40031681	NM_002015	O43523|Q5VYC7|Q6NSK6	Silent	SNP	ENST00000379561.5	37	CCDS9371.1																																																																																				0.428	FOXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044634.3	NM_002015	
RB1	5925	broad.mit.edu	37	13	49037867	49037867	+	Splice_Site	SNP	A	A	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr13:49037867A>T	ENST00000267163.4	+	21	2245	c.2107A>T	c.(2107-2109)Att>Ttt	p.I703F		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	703	Domain B.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(10)|p.I703_E737del(2)|p.I703F(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TATTTACTAGATTATGATGTG	0.289		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																											p.I703F		yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	.	.	28	Whole gene deletion(15)|Unknown(10)|Deletion - In frame(2)|Substitution - Missense(1)	bone(10)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|adrenal_gland(1)|large_intestine(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|ovary(1)|prostate(1)|liver(1)	c.A2107T	13						.						86.0	91.0	89.0					13																	49037867		2203	4294	6497	47935868	SO:0001630	splice_region_variant	5925	exon21	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2107-1A>T	13.37:g.49037867A>T			47935868	NM_000321	A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	ENST00000267163.4	37	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.974449	0.74246	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.93604	-3.25	6.07	6.07	0.98685	Retinoblastoma-associated protein, B-box (1);Cyclin-like (3);	0.081039	0.64402	D	0.000011	D	0.95859	0.8652	M	0.81614	2.55	0.80722	D	1	D	0.62365	0.991	P	0.60789	0.879	D	0.95666	0.8719	9	.	.	.	-20.5102	12.4026	0.55422	0.9333:0.0:0.0667:0.0	.	703	P06400	RB_HUMAN	F	682;703	ENSP00000267163:I703F	.	I	+	1	0	RB1	47935868	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.640000	0.54350	2.326000	0.78906	0.533000	0.62120	ATT		0.289	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		Missense_Mutation
FNDC3A	22862	broad.mit.edu	37	13	49765244	49765244	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr13:49765244C>T	ENST00000492622.2	+	18	2343	c.2038C>T	c.(2038-2040)Cag>Tag	p.Q680*	FNDC3A_ENST00000398316.3_Nonsense_Mutation_p.Q624*|FNDC3A_ENST00000541916.1_Nonsense_Mutation_p.Q680*	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	680	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)	p.Q680*(1)		endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		AAAAGAAATACAGTTACGATG	0.403																																					p.Q680X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2038T	13						.						72.0	82.0	79.0					13																	49765244		2203	4300	6503	48663245	SO:0001587	stop_gained	22862	exon18			AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"""Fibronectin type III domain containing"""	20296	protein-coding gene	gene with protein product		615794	"""fibronectin type III domain containing 3"""	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.2038C>T	13.37:g.49765244C>T	ENSP00000417257:p.Gln680*		48663245	NM_001079673	B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Nonsense_Mutation	SNP	ENST00000492622.2	37	CCDS41886.1	.	.	.	.	.	.	.	.	.	.	C	38	7.243243	0.98161	.	.	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	.	.	.	5.18	4.33	0.51752	.	0.000000	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-5.4087	14.4343	0.67270	0.1484:0.8516:0.0:0.0	.	.	.	.	X	680;616;680;624	.	ENSP00000338579:Q616X	Q	+	1	0	FNDC3A	48663245	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.381000	0.66208	1.286000	0.44565	0.655000	0.94253	CAG		0.403	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923	
THSD1	55901	broad.mit.edu	37	13	52952072	52952072	+	Missense_Mutation	SNP	G	G	A	rs201708767		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr13:52952072G>A	ENST00000258613.4	-	5	2211	c.2033C>T	c.(2032-2034)gCc>gTc	p.A678V	THSD1_ENST00000349258.4_Missense_Mutation_p.A625V|THSD1_ENST00000544466.1_Missense_Mutation_p.A299V	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	678					hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.A678V(1)		breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		GTAGGCAGGGGCCTGCCGTGG	0.607																																					p.A678V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2033T	13						.						27.0	29.0	28.0					13																	52952072		2203	4300	6503	51850073	SO:0001583	missense	55901	exon5			AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"""thrombospondin, type I, domain 1"""				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.2033C>T	13.37:g.52952072G>A	ENSP00000258613:p.Ala678Val		51850073	NM_018676	A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Missense_Mutation	SNP	ENST00000258613.4	37	CCDS9432.1	.	.	.	.	.	.	.	.	.	.	G	0.049	-1.256983	0.01457	.	.	ENSG00000136114	ENST00000349258;ENST00000544466;ENST00000258613	T;T;T	0.30448	2.27;1.53;2.45	5.41	-1.28	0.09318	.	0.893166	0.09663	N	0.772139	T	0.19846	0.0477	L	0.27053	0.805	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.08055	0.002;0.003	T	0.30794	-0.9966	10	0.20046	T	0.44	-6.5776	11.6627	0.51356	0.4307:0.0:0.5693:0.0	.	625;678	Q9NS62-2;Q9NS62	.;THSD1_HUMAN	V	625;299;678	ENSP00000340650:A625V;ENSP00000438512:A299V;ENSP00000258613:A678V	ENSP00000258613:A678V	A	-	2	0	THSD1	51850073	0.007000	0.16637	0.039000	0.18376	0.182000	0.23217	-0.171000	0.09883	-0.212000	0.10109	0.552000	0.68991	GCC		0.607	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045058.3		
KLHL1	57626	broad.mit.edu	37	13	70681409	70681409	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr13:70681409delT	ENST00000377844.4	-	1	1182	c.423delA	c.(421-423)aaafs	p.K141fs	KLHL1_ENST00000545028.1_Frame_Shift_Del_p.K9fs|ATXN8OS_ENST00000414504.2_RNA|ATXN8OS_ENST00000424524.1_RNA	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	141					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)	p.L143fs*32(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GAACCAGCCCTTTTTCGTGTG	0.577																																					p.K141fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.423delA	13						.						133.0	107.0	116.0					13																	70681409		2203	4300	6503	69579410	SO:0001589	frameshift_variant	57626	exon1			AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.423delA	13.37:g.70681409delT	ENSP00000367075:p.Lys141fs		69579410	NM_020866	A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Frame_Shift_Del	DEL	ENST00000377844.4	37	CCDS9445.1																																																																																				0.577	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866	
CHAMP1	283489	broad.mit.edu	37	13	115091732	115091732	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr13:115091732G>A	ENST00000361283.1	+	3	2724	c.2415G>A	c.(2413-2415)ccG>ccA	p.P805P		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	CHAP1_HUMAN	chromosome alignment maintaining phosphoprotein 1	805	Mediates localization to the chromosome and the spindle and negatively regulates chromosome alignment.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|protein localization to kinetochore (GO:0034501)|protein localization to microtubule (GO:0035372)|sister chromatid biorientation (GO:0031134)	condensed chromosome (GO:0000793)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.P805P(1)									CTCTTGAACCGCCACTGGAGG	0.363																																					p.P805P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2415A	13						.						41.0	38.0	39.0					13																	115091732		2203	4300	6503	114109834	SO:0001819	synonymous_variant	283489	exon3			AK074894	CCDS9545.1	13q34	2013-01-07	2011-10-07	2011-10-07	ENSG00000198824	ENSG00000198824		"""Zinc fingers, C2H2-type"""	20311	protein-coding gene	gene with protein product	"""chromosome alignment-maintaining phosphoprotein"""		"""chromosome 13 open reading frame 8"", ""zinc finger protein 828"""	C13orf8, ZNF828		21063390	Standard	NM_032436		Approved	CAMP, CHAMP	uc010ahb.3	Q96JM3	OTTHUMG00000017404	ENST00000361283.1:c.2415G>A	13.37:g.115091732G>A			114109834	NM_001164145	B3KU06|Q6P181|Q8NC88|Q9BST0	Silent	SNP	ENST00000361283.1	37	CCDS9545.1																																																																																				0.363	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045977.2	NM_032436	
DYNC1H1	1778	broad.mit.edu	37	14	102473402	102473402	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr14:102473402G>A	ENST00000360184.4	+	28	5938	c.5774G>A	c.(5773-5775)cGg>cAg	p.R1925Q		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1925	AAA 1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.R1925Q(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CAGCTTGGACGGTTTGTTTTA	0.438																																					p.R1925Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5774A	14						.						164.0	138.0	147.0					14																	102473402		2203	4300	6503	101543155	SO:0001583	missense	1778	exon28			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.5774G>A	14.37:g.102473402G>A	ENSP00000348965:p.Arg1925Gln		101543155	NM_001376	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	34	5.387202	0.95988	.	.	ENSG00000197102	ENST00000360184	T	0.09255	3.0	5.79	5.79	0.91817	ATPase, AAA+ type, core (1);	0.122178	0.56097	D	0.000031	T	0.40862	0.1134	M	0.89214	3.015	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	T	0.24225	-1.0166	10	0.34782	T	0.22	.	20.0435	0.97601	0.0:0.0:1.0:0.0	.	1925	Q14204	DYHC1_HUMAN	Q	1925	ENSP00000348965:R1925Q	ENSP00000348965:R1925Q	R	+	2	0	DYNC1H1	101543155	1.000000	0.71417	0.985000	0.45067	0.997000	0.91878	6.535000	0.73838	2.731000	0.93534	0.650000	0.86243	CGG		0.438	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376	
DYNC1H1	1778	broad.mit.edu	37	14	102515817	102515817	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr14:102515817C>T	ENST00000360184.4	+	75	13577	c.13413C>T	c.(13411-13413)gcC>gcT	p.A4471A	RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4471					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.A4471A(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CGGTGCCTGCCGGCATGACCG	0.602																																					p.A4471A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C13413T	14						.						67.0	59.0	62.0					14																	102515817		2203	4300	6503	101585570	SO:0001819	synonymous_variant	1778	exon75			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.13413C>T	14.37:g.102515817C>T			101585570	NM_001376	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	CCDS9966.1																																																																																				0.602	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376	
NDRG2	57447	broad.mit.edu	37	14	21491463	21491463	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr14:21491463C>T	ENST00000556147.1	-	2	952	c.12G>A	c.(10-12)ctG>ctA	p.L4L	NDRG2_ENST00000403829.3_Silent_p.L14L|NDRG2_ENST00000397855.3_Silent_p.L4L|NDRG2_ENST00000553503.1_Silent_p.L4L|NDRG2_ENST00000397847.2_Silent_p.L4L|NDRG2_ENST00000554104.1_5'Flank|NDRG2_ENST00000555158.1_Silent_p.L4L|NDRG2_ENST00000397851.2_Silent_p.L4L|NDRG2_ENST00000298687.5_Silent_p.L4L|AL161668.5_ENST00000533984.1_lincRNA|NDRG2_ENST00000360463.3_Silent_p.L4L|NDRG2_ENST00000554277.1_5'Flank|NDRG2_ENST00000397856.3_Silent_p.L4L|NDRG2_ENST00000397853.3_Silent_p.L4L|NDRG2_ENST00000350792.3_Silent_p.L4L|NDRG2_ENST00000554143.1_Silent_p.L4L|NDRG2_ENST00000298684.5_Silent_p.L4L|NDRG2_ENST00000397858.1_Silent_p.L4L|NDRG2_ENST00000397844.2_Silent_p.L4L			Q9UN36	NDRG2_HUMAN	NDRG family member 2	4					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.L4L(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)		GCACCTCCTGCAGCTCCGCCA	0.562																																					p.L4L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G12A	14						.						68.0	59.0	62.0					14																	21491463		2203	4300	6503	20561303	SO:0001819	synonymous_variant	57447	exon3			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.12G>A	14.37:g.21491463C>T			20561303	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																																																																																				0.562	NDRG2-013	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411717.1		
ZNF219	51222	broad.mit.edu	37	14	21560753	21560758	+	In_Frame_Del	DEL	GAGGCT	GAGGCT	-	rs71794845|rs11278664|rs3841049	byFrequency	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	GAGGCT	GAGGCT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr14:21560753_21560758delGAGGCT	ENST00000360947.3	-	3	1109_1114	c.698_703delAGCCTC	c.(697-705)cagcctcca>cca	p.QP233del	ZNF219_ENST00000421093.2_In_Frame_Del_p.QP233del|RP11-998D10.7_ENST00000554733.2_lincRNA|ZNF219_ENST00000451119.2_In_Frame_Del_p.QP233del|ZNF219_ENST00000556101.1_5'Flank	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	233				Missing (in Ref. 4; AAH00694). {ECO:0000305}.	negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurotransmitter levels (GO:0001505)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histamine receptor activity (GO:0004969)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q233_P234delQP(3)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		ggctggggtggaggctgaggctgagg	0.743											OREG0022565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		1230	0.245607	0.2549	0.3775	5008	,	,		14407	0.125		0.1879	False		,,,				2504	0.3231				p.233_235del												.	.	3	Deletion - In frame(3)	large_intestine(1)|prostate(1)|breast(1)	c.698_703del	14						.		,,	821,2789		238,345,1222					,,	2.7	1.0		dbSNP_107	4	1173,6075		279,615,2730	no	coding,coding,coding	ZNF219	NM_016423.2,NM_001102454.1,NM_001101672.1	,,	517,960,3952	A1A1,A1R,RR		16.1838,22.7424,18.3643	,,	,,		1994,8864				20630598	SO:0001651	inframe_deletion	51222	exon3			AB015427	CCDS9568.1	14q11	2013-01-08			ENSG00000165804	ENSG00000165804		"""Zinc fingers, C2H2-type"""	13011	protein-coding gene	gene with protein product		605036				10819330	Standard	NM_016423		Approved		uc001vzs.2	Q9P2Y4	OTTHUMG00000029647	ENST00000360947.3:c.698_703delAGCCTC	14.37:g.21560759_21560764delGAGGCT	ENSP00000354206:p.Gln233_Pro234del	749	20630593	NM_001102454	D3DS16|Q53Y57|Q8IYC1|Q9BW28	In_Frame_Del	DEL	ENST00000360947.3	37	CCDS9568.1																																																																																				0.743	ZNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073931.2		
MDGA2	161357	broad.mit.edu	37	14	47504471	47504471	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr14:47504471G>T	ENST00000399232.2	-	8	1719	c.1355C>A	c.(1354-1356)cCa>cAa	p.P452Q	MDGA2_ENST00000439988.3_Missense_Mutation_p.P521Q|MDGA2_ENST00000357362.3_Missense_Mutation_p.P223Q|MDGA2_ENST00000426342.1_Missense_Mutation_p.P223Q	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	452	Ig-like 5.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.P223Q(1)|p.P521Q(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GGTGACCAATGGTGATTTTTC	0.383																																					p.P223Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C668A	14						.						167.0	140.0	148.0					14																	47504471		1869	4103	5972	46574221	SO:0001583	missense	161357	exon8			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1355C>A	14.37:g.47504471G>T	ENSP00000382178:p.Pro452Gln		46574221	NM_182830	F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37		.	.	.	.	.	.	.	.	.	.	G	17.38	3.375206	0.61735	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.52	5.52	0.82312	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.51477	U	0.000090	T	0.31295	0.0792	N	0.19112	0.55	0.80722	D	1	P;P	0.36392	0.551;0.473	P;P	0.46419	0.516;0.449	T	0.04509	-1.0946	10	0.21540	T	0.41	.	18.0085	0.89216	0.0:0.0:1.0:0.0	.	223;452	F6W3S7;Q7Z553	.;MDGA2_HUMAN	Q	452;223;521;223	ENSP00000400011:P452Q;ENSP00000405456:P223Q;ENSP00000382178:P521Q;ENSP00000349925:P223Q	ENSP00000349925:P223Q	P	-	2	0	MDGA2	46574221	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.869000	0.99810	2.608000	0.88229	0.491000	0.48974	CCA		0.383	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830	
NIN	51199	broad.mit.edu	37	14	51237132	51237132	+	Missense_Mutation	SNP	G	G	A	rs201363211		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr14:51237132G>A	ENST00000382041.3	-	12	1598	c.1408C>T	c.(1408-1410)Cgg>Tgg	p.R470W	NIN_ENST00000324330.9_Missense_Mutation_p.R470W|NIN_ENST00000530997.2_Missense_Mutation_p.R470W|NIN_ENST00000245441.5_Missense_Mutation_p.R470W|NIN_ENST00000382043.4_Missense_Mutation_p.R470W|NIN_ENST00000389868.3_Missense_Mutation_p.R470W|NIN_ENST00000453196.1_Missense_Mutation_p.R470W	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	470					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)	p.R476W(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					AGGCGGTCCCGGATATAGTTC	0.478			T	PDGFRB	MPD								G|||	1	0.000199681	0.0	0.0	5008	,	,		19253	0.001		0.0	False		,,,				2504	0.0				p.R470W			Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1408T	14						.						175.0	154.0	161.0					14																	51237132		2203	4300	6503	50306882	SO:0001583	missense	51199	exon12			AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.1408C>T	14.37:g.51237132G>A	ENSP00000371472:p.Arg470Trp		50306882	NM_182944	A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	CCDS32079.1	.	.	.	.	.	.	.	.	.	.	g	22.1	4.249110	0.80024	.	.	ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196	T;T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95;1.95	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.47377	0.1442	M	0.77103	2.36	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.999;0.999;0.997	T	0.47249	-0.9132	10	0.87932	D	0	-21.2915	13.1503	0.59486	0.0:0.0:0.729:0.271	.	476;470;470;470;470	Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7	.;.;NIN_HUMAN;.;.	W	470;470;470;470;476;470;470;470	ENSP00000245441:R470W;ENSP00000374518:R470W;ENSP00000371474:R470W;ENSP00000371472:R470W;ENSP00000324210:R470W;ENSP00000412391:R470W	ENSP00000245441:R470W	R	-	1	2	NIN	50306882	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	1.951000	0.40333	2.668000	0.90789	0.645000	0.84053	CGG		0.478	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946	
ARID4A	5926	broad.mit.edu	37	14	58827676	58827676	+	Missense_Mutation	SNP	C	C	T	rs530045241		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr14:58827676C>T	ENST00000355431.3	+	19	2369	c.1996C>T	c.(1996-1998)Cgg>Tgg	p.R666W	ARID4A_ENST00000348476.3_Missense_Mutation_p.R666W|ARID4A_ENST00000395168.3_Missense_Mutation_p.R666W|ARID4A_ENST00000431317.2_Missense_Mutation_p.R666W	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	666					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R666W(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GAAGTCAAAACGGGGACGACC	0.428													C|||	1	0.000199681	0.0	0.0	5008	,	,		18262	0.0		0.0	False		,,,				2504	0.001				p.R666W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1996T	14						.						169.0	157.0	161.0					14																	58827676		2203	4300	6503	57897429	SO:0001583	missense	5926	exon19			S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.1996C>T	14.37:g.58827676C>T	ENSP00000347602:p.Arg666Trp		57897429	NM_023000	Q15991|Q15992|Q15993	Missense_Mutation	SNP	ENST00000355431.3	37	CCDS9732.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.017071	0.93404	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000431317;ENST00000417477	T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86	5.71	5.71	0.89125	Chromo domain-like (1);	0.055470	0.64402	D	0.000001	T	0.61590	0.2359	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.62473	-0.6847	10	0.62326	D	0.03	-8.5993	19.8505	0.96738	0.0:1.0:0.0:0.0	.	666;666;666	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	W	666;666;666;666;344	ENSP00000347602:R666W;ENSP00000344556:R666W;ENSP00000378597:R666W;ENSP00000397368:R666W;ENSP00000416053:R344W	ENSP00000344556:R666W	R	+	1	2	ARID4A	57897429	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.765000	0.55272	2.688000	0.91661	0.655000	0.94253	CGG		0.428	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001	
SIX6	4990	broad.mit.edu	37	14	60976234	60976234	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr14:60976234G>A	ENST00000327720.5	+	1	566	c.118G>A	c.(118-120)Gcc>Acc	p.A40T		NM_007374.2	NP_031400.2	O95475	SIX6_HUMAN	SIX homeobox 6	40					organ morphogenesis (GO:0009887)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)	p.A40T(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.088)		GCTGCCCGTGGCCCCTGCGGC	0.627																																					p.A40T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G118A	14						.						40.0	45.0	43.0					14																	60976234		2203	4300	6503	60045987	SO:0001583	missense	4990	exon1			AF141651	CCDS9747.1	14q23.1	2011-06-20	2007-07-13		ENSG00000184302	ENSG00000184302		"""Homeoboxes / SINE class"""	10892	protein-coding gene	gene with protein product		606326	"""sine oculis homeobox (Drosophila) homolog 6"", ""sine oculis homeobox homolog 6 (Drosophila)"""	OPTX2		10512683	Standard	NM_007374		Approved	Six9	uc001xfa.4	O95475	OTTHUMG00000152339	ENST00000327720.5:c.118G>A	14.37:g.60976234G>A	ENSP00000328596:p.Ala40Thr		60045987	NM_007374	Q6NT42|Q9P1X8	Missense_Mutation	SNP	ENST00000327720.5	37	CCDS9747.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.303055	0.81136	.	.	ENSG00000184302	ENST00000327720	D	0.97209	-4.29	5.52	5.52	0.82312	.	0.631756	0.17171	N	0.184298	D	0.95114	0.8417	L	0.41492	1.28	0.80722	D	1	B	0.19706	0.038	B	0.15484	0.013	D	0.91337	0.5094	10	0.59425	D	0.04	.	18.6065	0.91268	0.0:0.0:1.0:0.0	.	40	O95475	SIX6_HUMAN	T	40	ENSP00000328596:A40T	ENSP00000328596:A40T	A	+	1	0	SIX6	60045987	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.575000	0.98187	2.873000	0.98535	0.563000	0.77884	GCC		0.627	SIX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276952.2		
KCNH5	27133	broad.mit.edu	37	14	63246581	63246581	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr14:63246581C>T	ENST00000322893.7	-	10	2152	c.1884G>A	c.(1882-1884)gcG>gcA	p.A628A	KCNH5_ENST00000394968.1_Silent_p.A570A|KCNH5_ENST00000420622.2_Intron	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	628					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.A628A(2)|p.A570A(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CCCGGACGTTCGCACATGCAT	0.448																																					p.A570A												.	.	3	Substitution - coding silent(3)	lung(2)|large_intestine(1)	c.G1710A	14						.						107.0	94.0	98.0					14																	63246581		2203	4300	6503	62316334	SO:0001819	synonymous_variant	27133	exon10			U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.1884G>A	14.37:g.63246581C>T			62316334	NM_172376	C9JP98	Silent	SNP	ENST00000322893.7	37	CCDS9756.1																																																																																				0.448	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318	
MTHFD1	4522	broad.mit.edu	37	14	64916196	64916196	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr14:64916196C>T	ENST00000545908.1	+	24	2710	c.2481C>T	c.(2479-2481)agC>agT	p.S827S	ZBTB25_ENST00000555220.1_3'UTR|CTD-2555O16.2_ENST00000556640.1_RNA|MTHFD1_ENST00000216605.8_Silent_p.S771S|ZBTB25_ENST00000555424.1_3'UTR			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	771	Formyltetrahydrofolate synthetase.				folic acid metabolic process (GO:0046655)|folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (GO:0004486)	p.S771S(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Tetrahydrofolic acid(DB00116)	ACCTCATCAGCCGCCTTTCCA	0.517																																					p.S771S	Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2313T	14						.						84.0	89.0	87.0					14																	64916196		2203	4300	6503	63985949	SO:0001819	synonymous_variant	4522	exon24			J04031	CCDS9763.1	14q24	2004-12-13			ENSG00000100714	ENSG00000100714	1.5.1.15, 3.5.4.-		7432	protein-coding gene	gene with protein product		172460		MTHFC, MTHFD		3053686, 2786332	Standard	NM_005956		Approved		uc001xhb.3	P11586	OTTHUMG00000141309	ENST00000545908.1:c.2481C>T	14.37:g.64916196C>T			63985949	NM_005956	B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Silent	SNP	ENST00000545908.1	37																																																																																					0.517	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000412167.1		
EXD2	55218	broad.mit.edu	37	14	69707763	69707763	+	Silent	SNP	C	C	T	rs529708443		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr14:69707763C>T	ENST00000409018.3	+	9	1940	c.1812C>T	c.(1810-1812)aaC>aaT	p.N604N	EXD2_ENST00000312994.5_Silent_p.N604N|RP11-363J20.2_ENST00000556316.1_lincRNA|EXD2_ENST00000409675.1_Silent_p.N479N|EXD2_ENST00000409949.1_Silent_p.N479N|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000409014.1_Silent_p.N479N|EXD2_ENST00000449989.1_Silent_p.N479N|EXD2_ENST00000409242.1_Silent_p.N479N	NM_001193361.1	NP_001180290.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	604							3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)	p.N604N(1)|p.N479N(1)		breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						TGGACCACAACCATCAGAAGC	0.592													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18934	0.0		0.0	False		,,,				2504	0.0				p.N604N												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1812T	14						.						54.0	50.0	51.0					14																	69707763		2203	4300	6503	68777516	SO:0001819	synonymous_variant	55218	exon9			AK001600	CCDS9793.1, CCDS53902.1	14q24.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000081177	ENSG00000081177			20217	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 114"", ""exonuclease 3'-5' domain-like 2"""	C14orf114, EXDL2			Standard	NM_018199		Approved	FLJ10738	uc001xkv.3	Q9NVH0	OTTHUMG00000154496	ENST00000409018.3:c.1812C>T	14.37:g.69707763C>T			68777516	NM_001193363	B4DIH6|G5E947|Q6AWB6|Q8N3D3	Silent	SNP	ENST00000409018.3	37	CCDS53902.1																																																																																				0.592	EXD2-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000335504.1		
ADAM20	8748	broad.mit.edu	37	14	70990833	70990833	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr14:70990833G>A	ENST00000256389.3	-	2	1036	c.792C>T	c.(790-792)gtC>gtT	p.V264V	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	214	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.V264V(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		TATTATCCACGACCACTACCA	0.398																																					p.V264V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C792T	14						.						67.0	64.0	65.0					14																	70990833		2203	4300	6503	70060586	SO:0001819	synonymous_variant	8748	exon2			AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"""ADAM metallopeptidase domain containing"""	199	protein-coding gene	gene with protein product		603712	"""a disintegrin and metalloproteinase domain 20"""			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.792C>T	14.37:g.70990833G>A			70060586	NM_003814	Q6GTZ1|Q9UKJ9	Silent	SNP	ENST00000256389.3	37	CCDS32111.1																																																																																				0.398	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2		
MAP3K9	4293	broad.mit.edu	37	14	71209216	71209216	+	Silent	SNP	G	G	A	rs368106072		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr14:71209216G>A	ENST00000554752.2	-	6	1418	c.1419C>T	c.(1417-1419)gcC>gcT	p.A473A	MAP3K9_ENST00000553414.1_Silent_p.A167A|MAP3K9_ENST00000555993.2_Silent_p.A473A|MAP3K9_ENST00000381250.4_Silent_p.A473A|MAP3K9_ENST00000554146.1_Silent_p.A210A	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	473	Leucine-zipper 2.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.A473A(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		TCTCCCGCTCGGCCAGCTCCT	0.617													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17046	0.0		0.0	False		,,,				2504	0.0				p.A473A	GBM(114;411 1587 13539 28235 50070)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1419T	14						.	G		1,4405	2.1+/-5.4	0,1,2202	62.0	56.0	58.0		1419	-12.1	0.1	14		58	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MAP3K9	NM_033141.2		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		473/1119	71209216	2,13004	2203	4300	6503	70278969	SO:0001819	synonymous_variant	4293	exon6			AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.1419C>T	14.37:g.71209216G>A			70278969	NM_033141	A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Silent	SNP	ENST00000554752.2	37																																																																																					0.617	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2		
ACOT2	10965	broad.mit.edu	37	14	74036138	74036138	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr14:74036138C>T	ENST00000238651.5	+	1	376	c.194C>T	c.(193-195)gCg>gTg	p.A65V	ACOT2_ENST00000538782.1_Intron	NM_006821.5	NP_006812.3	P49753	ACOT2_HUMAN	acyl-CoA thioesterase 2	65					acyl-CoA metabolic process (GO:0006637)|long-chain fatty acid metabolic process (GO:0001676)|very long-chain fatty acid metabolic process (GO:0000038)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)	p.A65V(1)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		CGGATGGCGGCGACGCTGATC	0.677																																					p.A65V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C194T	14						.						84.0	73.0	77.0					14																	74036138		2203	4300	6503	73105891	SO:0001583	missense	10965	exon1			AY005822, AK001939	CCDS9816.1	14q24.3	2013-09-20			ENSG00000119673	ENSG00000119673		"""Acyl CoA thioesterases"""	18431	protein-coding gene	gene with protein product	"""mitochondrial acyl-CoA thioesterase 1"""	609972				16103133, 16940157	Standard	NM_006821		Approved	Mte1, ZAP128	uc001xon.5	P49753	OTTHUMG00000171608	ENST00000238651.5:c.194C>T	14.37:g.74036138C>T	ENSP00000238651:p.Ala65Val		73105891	NM_006821	Q3I5F8|Q53EK4|Q9NUX4	Missense_Mutation	SNP	ENST00000238651.5	37	CCDS9816.1	.	.	.	.	.	.	.	.	.	.	C	9.501	1.103295	0.20632	.	.	ENSG00000119673	ENST00000238651	T	0.43688	0.94	3.94	0.438	0.16560	.	0.617668	0.16303	N	0.220366	T	0.13713	0.0332	N	0.08118	0	0.09310	N	1	B	0.30033	0.266	B	0.18263	0.021	T	0.29305	-1.0016	10	0.02654	T	1	-5.9119	5.1976	0.15246	0.0:0.5201:0.0:0.4799	.	65	P49753	ACOT2_HUMAN	V	65	ENSP00000238651:A65V	ENSP00000238651:A65V	A	+	2	0	ACOT2	73105891	0.000000	0.05858	0.018000	0.16275	0.016000	0.09150	-0.644000	0.05415	0.264000	0.21851	-0.244000	0.11960	GCG		0.677	ACOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414435.1	NM_006821	
VRTN	55237	broad.mit.edu	37	14	74823715	74823715	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr14:74823715C>T	ENST00000256362.4	+	2	470	c.229C>T	c.(229-231)Ctg>Ttg	p.L77L		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	77					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)	p.L77L(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CATGCTGCCGCTGGTGTGCAA	0.692																																					p.L77L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C229T	14						.						57.0	50.0	53.0					14																	74823715		2203	4300	6503	73893468	SO:0001819	synonymous_variant	55237	exon2			AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 115"", ""vertebrae development homolog (pig)"""	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.229C>T	14.37:g.74823715C>T			73893468	NM_018228	Q9NVC7	Silent	SNP	ENST00000256362.4	37	CCDS9830.1																																																																																				0.692	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228	
PTPN21	11099	broad.mit.edu	37	14	88946329	88946329	+	Silent	SNP	G	G	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr14:88946329G>T	ENST00000556564.1	-	13	1730	c.1446C>A	c.(1444-1446)gcC>gcA	p.A482A	PTPN21_ENST00000328736.3_Silent_p.A482A	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	482					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)	p.A482A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GCCTGCTGTAGGCGTACGAGC	0.652																																					p.A482A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1446A	14						.						31.0	35.0	33.0					14																	88946329		2203	4299	6502	88016082	SO:0001819	synonymous_variant	11099	exon13			X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.1446C>A	14.37:g.88946329G>T			88016082	NM_007039		Silent	SNP	ENST00000556564.1	37	CCDS9884.1																																																																																				0.652	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1		
EML5	161436	broad.mit.edu	37	14	89089052	89089054	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	CTT	CTT	CTT	-	CTT	CTT	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr14:89089052_89089054delCTT	ENST00000380664.5	-	35	4882_4884	c.4883_4885delAAG	c.(4882-4887)gaagga>gga	p.E1628del	EML5_ENST00000553320.1_Intron|EML5_ENST00000352093.5_In_Frame_Del_p.E1590del|EML5_ENST00000554922.1_In_Frame_Del_p.E1636del			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1628						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)	p.E1636delE(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						ACCGCTCCTCCTTCTTTTGACCT	0.414																																					p.1636_1637del												.	.	1	Deletion - In frame(1)	large_intestine(1)	c.4907_4909del	14						.																																			88158807	SO:0001651	inframe_deletion	161436	exon36			AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.4883_4885delAAG	14.37:g.89089055_89089057delCTT	ENSP00000370039:p.Glu1628del		88158805	NM_183387	B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	In_Frame_Del	DEL	ENST00000380664.5	37	CCDS45148.1																																																																																				0.414	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1		
TTC8	123016	broad.mit.edu	37	14	89337997	89337997	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr14:89337997G>A	ENST00000345383.5	+	11	1208	c.1124G>A	c.(1123-1125)cGt>cAt	p.R375H	TTC8_ENST00000338104.6_Missense_Mutation_p.R401H|TTC8_ENST00000358622.5_Missense_Mutation_p.R187H|TTC8_ENST00000346301.4_Missense_Mutation_p.R345H|TTC8_ENST00000354441.6_Missense_Mutation_p.R120H|TTC8_ENST00000536576.1_Missense_Mutation_p.R146H|TTC8_ENST00000380656.2_Missense_Mutation_p.R385H	NM_198309.2	NP_938051.1	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	411					axon guidance (GO:0007411)|camera-type eye photoreceptor cell differentiation (GO:0060219)|cilium assembly (GO:0042384)|establishment of anatomical structure orientation (GO:0048560)|fat cell differentiation (GO:0045444)|multicellular organism growth (GO:0035264)|nonmotile primary cilium assembly (GO:0035058)|olfactory bulb development (GO:0021772)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|renal tubule development (GO:0061326)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)	BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)	p.R385H(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TCATTTGAACGTGCCCTTTCT	0.438																																					p.R375H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1124A	14						.						141.0	129.0	133.0					14																	89337997		2203	4300	6503	88407750	SO:0001583	missense	123016	exon11			AK093891	CCDS9885.1, CCDS9886.1, CCDS32137.1, CCDS73674.1, CCDS73675.1	14q31.3	2013-02-14				ENSG00000165533		"""Tetratricopeptide (TTC) repeat domain containing"""	20087	protein-coding gene	gene with protein product		608132				14520415, 20451172	Standard	NM_144596		Approved	BBS8, RP51	uc001xxi.3	Q8TAM2		ENST00000345383.5:c.1124G>A	14.37:g.89337997G>A	ENSP00000339486:p.Arg375His		88407750	NM_198309	A6NFG2|B3KWA5|Q67B97|Q86SY0|Q86TV9|Q86U26|Q8NDH9|Q96DG8	Missense_Mutation	SNP	ENST00000345383.5	37	CCDS9885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.110237|5.110237	0.94292|0.94292	.|.	.|.	ENSG00000165533|ENSG00000165533	ENST00000345383;ENST00000536576;ENST00000346301;ENST00000338104;ENST00000354441;ENST00000380656;ENST00000358622|ENST00000554686	T;T;T;T;T;T;T|.	0.68181|.	-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31|.	5.73|5.73	5.73|5.73	0.89815|0.89815	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84215|0.84215	0.5423|0.5423	M|M	0.86651|0.86651	2.83|2.83	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;0.997;1.0;0.994;0.994|.	D;D;D;P;P|.	0.87578|.	0.991;0.95;0.998;0.784;0.784|.	D|D	0.85362|0.85362	0.1108|0.1108	10|5	0.56958|.	D|.	0.05|.	-12.0124|-12.0124	19.8984|19.8984	0.96975|0.96975	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	120;146;411;355;385|.	Q8TAM2-2;B3KSL8;Q8TAM2;Q8TAM2-3;Q8TAM2-4|.	.;.;TTC8_HUMAN;.;.|.	H|M	375;146;345;401;120;385;187|335	ENSP00000339486:R375H;ENSP00000445067:R146H;ENSP00000298324:R345H;ENSP00000337653:R401H;ENSP00000346427:R120H;ENSP00000370031:R385H;ENSP00000351439:R187H|.	ENSP00000337653:R401H|.	R|V	+|+	2|1	0|0	TTC8|TTC8	88407750|88407750	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.474000|9.474000	0.97718|0.97718	2.712000|2.712000	0.92718|0.92718	0.555000|0.555000	0.69702|0.69702	CGT|GTG		0.438	TTC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410861.1	NM_144596	
CCDC88C	440193	broad.mit.edu	37	14	91875088	91875088	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr14:91875088C>T	ENST00000389857.6	-	3	271	c.185G>A	c.(184-186)cGc>cAc	p.R62H	CCDC88C_ENST00000554165.1_5'UTR|CCDC88C_ENST00000389856.5_Missense_Mutation_p.R54H|CCDC88C_ENST00000553403.1_Missense_Mutation_p.R62H	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	62					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)	p.R62H(1)		central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CTTATTGATGCGTTGATTTGT	0.483																																					p.R62H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G185A	14						.						156.0	165.0	162.0					14																	91875088		2031	4189	6220	90944841	SO:0001583	missense	440193	exon3				CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.185G>A	14.37:g.91875088C>T	ENSP00000374507:p.Arg62His		90944841	NM_001080414	Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	37	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.161593	0.38119	.	.	ENSG00000015133	ENST00000389857;ENST00000541408;ENST00000389856;ENST00000553403	T;T;T	0.49139	2.0;0.79;0.79	5.02	4.13	0.48395	.	0.000000	0.36628	U	0.002483	T	0.62134	0.2403	M	0.82323	2.585	0.80722	D	1	P;P	0.52061	0.95;0.925	P;B	0.51999	0.687;0.271	T	0.69587	-0.5105	10	0.72032	D	0.01	-21.9438	13.3305	0.60483	0.0:0.9223:0.0:0.0777	.	62;62	Q9P219;G3V3S0	DAPLE_HUMAN;.	H	62;26;54;62	ENSP00000374507:R62H;ENSP00000374506:R54H;ENSP00000451392:R62H	ENSP00000374506:R54H	R	-	2	0	CCDC88C	90944841	1.000000	0.71417	0.986000	0.45419	0.114000	0.19823	6.369000	0.73109	1.261000	0.44149	-0.142000	0.14014	CGC		0.483	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353	
CATSPERB	79820	broad.mit.edu	37	14	92159776	92159776	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr14:92159776T>C	ENST00000256343.3	-	8	820	c.664A>G	c.(664-666)Acc>Gcc	p.T222A		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	222					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)		p.T222A(1)		NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				AACCATGTGGTATCATAATCA	0.368																																					p.T222A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A664G	14						.						147.0	141.0	143.0					14																	92159776		2203	4300	6503	91229529	SO:0001583	missense	79820	exon8			AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"""chromosome 14 open reading frame 161"", ""cation channel, sperm-associated, beta"""	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.664A>G	14.37:g.92159776T>C	ENSP00000256343:p.Thr222Ala		91229529	NM_024764	A0AV51	Missense_Mutation	SNP	ENST00000256343.3	37	CCDS32142.1	.	.	.	.	.	.	.	.	.	.	T	13.31	2.198752	0.38806	.	.	ENSG00000133962	ENST00000256343	T	0.49720	0.77	5.12	2.63	0.31362	.	0.368608	0.23028	N	0.052778	T	0.38957	0.1060	L	0.50333	1.59	0.09310	N	1	P	0.42692	0.787	B	0.41510	0.359	T	0.18429	-1.0337	10	0.39692	T	0.17	-2.6708	6.1693	0.20408	0.166:0.0:0.1614:0.6726	.	222	Q9H7T0	CTSRB_HUMAN	A	222	ENSP00000256343:T222A	ENSP00000256343:T222A	T	-	1	0	CATSPERB	91229529	0.005000	0.15991	0.000000	0.03702	0.002000	0.02628	1.406000	0.34646	0.367000	0.24454	0.459000	0.35465	ACC		0.368	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411769.1	NM_024764	
BTBD7	55727	broad.mit.edu	37	14	93717891	93717891	+	Silent	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr14:93717891T>C	ENST00000334746.5	-	8	2167	c.1860A>G	c.(1858-1860)ccA>ccG	p.P620P	BTBD7_ENST00000554565.1_Silent_p.P269P|BTBD7_ENST00000393170.2_Silent_p.P194P	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	620					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)		p.P620P(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GACAACACTGTGGCACGGCAT	0.493																																					p.P620P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1860G	14						.						260.0	205.0	224.0					14																	93717891		2203	4300	6503	92787644	SO:0001819	synonymous_variant	55727	exon8			AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.1860A>G	14.37:g.93717891T>C			92787644	NM_001002860	A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Silent	SNP	ENST00000334746.5	37	CCDS32146.1																																																																																				0.493	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860	
UNC79	57578	broad.mit.edu	37	14	94152945	94152945	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr14:94152945A>T	ENST00000393151.2	+	44	6964	c.6964A>T	c.(6964-6966)Agg>Tgg	p.R2322W	UNC79_ENST00000553484.1_Missense_Mutation_p.R2344W|UNC79_ENST00000555664.1_Missense_Mutation_p.R2283W|UNC79_ENST00000256339.4_Missense_Mutation_p.R2145W			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2322					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R2145W(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GGAGTGTGTGAGGCAGTACAT	0.517																																					p.R2145W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A6433T	14						.						228.0	152.0	178.0					14																	94152945		2203	4300	6503	93222698	SO:0001583	missense	57578	exon44			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.6964A>T	14.37:g.94152945A>T	ENSP00000376858:p.Arg2322Trp		93222698	NM_020818	B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37		.	.	.	.	.	.	.	.	.	.	A	17.61	3.433328	0.62844	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.30714	1.53;1.56;1.52;1.53	5.65	1.39	0.22231	.	0.050337	0.85682	D	0.000000	T	0.44953	0.1318	M	0.65975	2.015	0.54753	D	0.999988	P	0.41947	0.766	P	0.51487	0.671	T	0.54200	-0.8329	10	0.87932	D	0	-19.3675	15.3183	0.74099	0.7187:0.2813:0.0:0.0	.	2344	C9JQL1	.	W	2145;2283;2344;2322;2344	ENSP00000256339:R2145W;ENSP00000450868:R2283W;ENSP00000451360:R2344W;ENSP00000376858:R2322W	ENSP00000256339:R2145W	R	+	1	2	KIAA1409	93222698	1.000000	0.71417	0.991000	0.47740	0.359000	0.29487	1.243000	0.32767	0.373000	0.24621	-0.213000	0.12676	AGG		0.517	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395	
FAM181A	90050	broad.mit.edu	37	14	94394725	94394725	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr14:94394725C>T	ENST00000267594.5	+	3	587	c.280C>T	c.(280-282)Cgc>Tgc	p.R94C	FAM181A_ENST00000557719.1_Missense_Mutation_p.R32C|FAM181A-AS1_ENST00000554742.1_RNA|FAM181A_ENST00000557000.2_Missense_Mutation_p.R32C|FAM181A_ENST00000556222.1_Missense_Mutation_p.R32C	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	94								p.R94C(1)		cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						CGCACCCTGCCGCCGCTCCGT	0.612																																					p.R94C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C280T	14						.						54.0	49.0	51.0					14																	94394725		2203	4300	6503	93464478	SO:0001583	missense	90050	exon3			BC009073	CCDS9914.1, CCDS55939.1	14q32.12	2011-11-30	2008-07-22	2008-07-22	ENSG00000140067	ENSG00000140067			20491	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 152"""	C14orf152			Standard	NM_138344		Approved		uc021saz.1	Q8N9Y4	OTTHUMG00000171297	ENST00000267594.5:c.280C>T	14.37:g.94394725C>T	ENSP00000267594:p.Arg94Cys		93464478	NM_138344	B2RD39|Q96GY1	Missense_Mutation	SNP	ENST00000267594.5	37	CCDS9914.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.531555	0.64972	.	.	ENSG00000140067	ENST00000557719;ENST00000267594;ENST00000556222;ENST00000554404;ENST00000557000	T;T;T;T	0.39592	1.07;1.07;1.07;1.07	4.65	4.65	0.58169	.	0.000000	0.53938	D	0.000046	T	0.61274	0.2334	L	0.53249	1.67	0.58432	D	0.999992	D	0.89917	1.0	D	0.91635	0.999	T	0.65857	-0.6066	10	0.87932	D	0	-17.6643	17.5352	0.87829	0.0:1.0:0.0:0.0	.	94	Q8N9Y4	F181A_HUMAN	C	32;94;32;32;83	ENSP00000451802:R32C;ENSP00000267594:R94C;ENSP00000451678:R32C;ENSP00000452393:R32C	ENSP00000267594:R94C	R	+	1	0	FAM181A	93464478	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	3.879000	0.56138	2.148000	0.66965	0.491000	0.48974	CGC		0.612	FAM181A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412840.1	NM_138344	
DDX24	57062	broad.mit.edu	37	14	94526445	94526445	+	Splice_Site	SNP	C	C	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr14:94526445C>G	ENST00000330836.5	-	5	2043	c.1912G>C	c.(1912-1914)Gac>Cac	p.D638H	DDX24_ENST00000555054.1_Splice_Site_p.D595H|DDX24_ENST00000544005.1_Splice_Site_p.D388H	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	638	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				RNA metabolic process (GO:0016070)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)	p.D638H(1)		cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		CTAACTTACTCTTCCAGACGG	0.512																																					p.D638H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1912C	14						.						68.0	67.0	67.0					14																	94526445		2203	4300	6503	93596198	SO:0001630	splice_region_variant	57062	exon5			AF214731	CCDS9918.1	14q32	2013-07-16	2013-07-16			ENSG00000089737		"""DEAD-boxes"""	13266	protein-coding gene	gene with protein product		606181	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 24"""			10936056, 18289627	Standard	NM_020414		Approved		uc001ycj.3	Q9GZR7		ENST00000330836.5:c.1913+1G>C	14.37:g.94526445C>G			93596198	NM_020414	E7EMJ4|Q4V9L5	Missense_Mutation	SNP	ENST00000330836.5	37	CCDS9918.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.777170	0.49786	.	.	ENSG00000089737	ENST00000330836;ENST00000544005;ENST00000440370;ENST00000543787;ENST00000555054;ENST00000542247	T;T;T	0.04603	3.59;3.59;3.59	5.87	4.97	0.65823	Helicase, C-terminal (3);	0.176543	0.64402	D	0.000019	T	0.04588	0.0125	N	0.11870	0.19	0.41958	D	0.990696	P	0.34757	0.467	B	0.41412	0.356	T	0.49234	-0.8961	10	0.54805	T	0.06	-7.1228	10.9041	0.47069	0.0:0.8607:0.0:0.1393	.	638	Q9GZR7	DDX24_HUMAN	H	638;388;583;264;595;595	ENSP00000328690:D638H;ENSP00000440623:D388H;ENSP00000452145:D595H	ENSP00000328690:D638H	D	-	1	0	DDX24	93596198	1.000000	0.71417	1.000000	0.80357	0.646000	0.38490	3.185000	0.50934	2.941000	0.99782	0.655000	0.94253	GAC		0.512	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412861.1	NM_020414	Missense_Mutation
ATG2B	55102	broad.mit.edu	37	14	96770878	96770878	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr14:96770878delC	ENST00000359933.4	-	32	5689	c.4796delG	c.(4795-4797)ggafs	p.G1599fs	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1599					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)		p.G1599fs*9(1)		breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CCTTCCTTTTCCCCCACATAC	0.403																																					p.G1599fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.4796delG	14						.						160.0	147.0	151.0					14																	96770878		2203	4300	6503	95840631	SO:0001589	frameshift_variant	55102	exon32			AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.4796delG	14.37:g.96770878delC	ENSP00000353010:p.Gly1599fs		95840631	NM_018036	Q6ZRE7|Q96DQ3|Q9NW80	Frame_Shift_Del	DEL	ENST00000359933.4	37	CCDS9944.2																																																																																				0.403	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036	
DYNC1H1	1778	broad.mit.edu	37	14	102516185	102516185	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr14:102516185C>T	ENST00000360184.4	+	76	13814	c.13650C>T	c.(13648-13650)ggC>ggT	p.G4550G	RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4550					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.G4550G(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CCTCACAGGGCGCCACCCTTG	0.592																																					p.G4550G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C13650T	14						.						52.0	47.0	48.0					14																	102516185		2203	4300	6503	101585938	SO:0001819	synonymous_variant	1778	exon76			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.13650C>T	14.37:g.102516185C>T			101585938	NM_001376	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	CCDS9966.1																																																																																				0.592	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376	
SPRED1	161742	broad.mit.edu	37	15	38591702	38591702	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr15:38591702G>A	ENST00000299084.4	+	2	1021	c.161G>A	c.(160-162)gGc>gAc	p.G54D	SPRED1_ENST00000561205.1_3'UTR	NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	54	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)	p.G54D(1)		kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GAAGAGAATGGCTGTGCTGAC	0.413									Legius syndrome																												p.G54D	Melanoma(196;2146 2959 7698 16532)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G161A	15						.						128.0	109.0	115.0					15																	38591702		2200	4297	6497	36378994	SO:0001583	missense	161742	exon2	Familial Cancer Database	Neurofibromatosis type 1 - like syndrome, SPRED1 disorder	AK091222	CCDS32193.1	15q14	2014-06-13			ENSG00000166068	ENSG00000166068			20249	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 147"""	609291					Standard	NM_152594		Approved	FLJ33903, PPP1R147	uc001zka.4	Q7Z699		ENST00000299084.4:c.161G>A	15.37:g.38591702G>A	ENSP00000299084:p.Gly54Asp		36378994	NM_152594	B2RPJ8|Q05D53|Q8N256	Missense_Mutation	SNP	ENST00000299084.4	37	CCDS32193.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.490647	0.84962	.	.	ENSG00000166068	ENST00000299084	T	0.73258	-0.73	5.72	5.72	0.89469	EVH1 (2);Pleckstrin homology-type (1);	0.334636	0.39020	N	0.001500	T	0.69178	0.3082	L	0.47016	1.485	0.51767	D	0.999933	B	0.27700	0.186	B	0.30179	0.112	T	0.67252	-0.5717	10	0.62326	D	0.03	-30.456	19.8868	0.96915	0.0:0.0:1.0:0.0	.	54	Q7Z699	SPRE1_HUMAN	D	54	ENSP00000299084:G54D	ENSP00000299084:G54D	G	+	2	0	SPRED1	36378994	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.367000	0.66127	2.709000	0.92574	0.655000	0.94253	GGC		0.413	SPRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418217.1		
FAM98B	283742	broad.mit.edu	37	15	38776833	38776833	+	IGR	SNP	T	T	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr15:38776833T>A	ENST00000491535.1	+	0	3111				FAM98B_ENST00000397609.2_Silent_p.G425G	NM_001042429.1	NP_001035894.1	Q52LJ0	FA98B_HUMAN	family with sequence similarity 98, member B							cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-splicing ligase complex (GO:0072669)	poly(A) RNA binding (GO:0044822)	p.G425G(2)		endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8		all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209)		gtggtggtggtggaggaggtg	0.428																																					p.G425G												.	.	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	c.T1275A	15						.						17.0	17.0	17.0					15																	38776833		1500	3373	4873	36564125	SO:0001628	intergenic_variant	283742	exon8				CCDS10047.2	15q14	2006-11-29		2005-11-20	ENSG00000171262	ENSG00000171262			26773	protein-coding gene	gene with protein product						12477932	Standard	NM_173611		Approved	FLJ38426	uc001zkc.3	Q52LJ0	OTTHUMG00000129831		15.37:g.38776833T>A			36564125	NM_173611	A8MUW5|Q8N935	Silent	SNP	ENST00000491535.1	37	CCDS42015.1																																																																																				0.428	FAM98B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252071.2	NM_173611	
NDUFAF1	51103	broad.mit.edu	37	15	41687107	41687107	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	A	A	A	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr15:41687107A>G	ENST00000260361.4	-	3	1090	c.709T>C	c.(709-711)Tat>Cat	p.Y237H		NM_016013.3	NP_057097.2	Q9Y375	CIA30_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 1	237					mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|mitochondrial respiratory chain complex I (GO:0005747)	unfolded protein binding (GO:0051082)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	12		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)		AAGTAACTATACATCTGATTC	0.473																																					p.Y237H												.	.	0			c.T709C	15						.						111.0	97.0	101.0					15																	41687107		2203	4300	6503	39474399	SO:0001583	missense	51103	exon3			AF151823	CCDS10075.1	15q11.2-q21.3	2012-10-12	2012-05-08		ENSG00000137806	ENSG00000137806		"""Mitochondrial respiratory chain complex assembly factors"""	18828	protein-coding gene	gene with protein product		606934				11935339, 10810093	Standard	NM_016013		Approved	CIA30, CGI-65	uc001znx.3	Q9Y375	OTTHUMG00000130340	ENST00000260361.4:c.709T>C	15.37:g.41687107A>G	ENSP00000260361:p.Tyr237His		39474399	NM_016013	Q9BVZ5	Missense_Mutation	SNP	ENST00000260361.4	37	CCDS10075.1	.	.	.	.	.	.	.	.	.	.	A	17.01	3.279803	0.59758	.	.	ENSG00000137806	ENST00000260361	D	0.83250	-1.7	5.63	4.49	0.54785	NADH:ubiquinone oxidoreductase intermediate-associated protein 30 (1);Galactose-binding domain-like (1);	0.111608	0.64402	D	0.000006	T	0.77994	0.4214	L	0.44542	1.39	0.58432	D	0.999997	P	0.40515	0.719	B	0.43018	0.405	T	0.73864	-0.3848	10	0.18710	T	0.47	-10.107	12.2482	0.54583	0.9304:0.0:0.0696:0.0	.	237	Q9Y375	CIA30_HUMAN	H	237	ENSP00000260361:Y237H	ENSP00000260361:Y237H	Y	-	1	0	NDUFAF1	39474399	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.236000	0.78154	2.282000	0.76494	0.451000	0.29950	TAT		0.473	NDUFAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252692.2	NM_016013	
LTK	4058	broad.mit.edu	37	15	41797604	41797604	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr15:41797604G>A	ENST00000263800.6	-	14	1918	c.1822C>T	c.(1822-1824)Cac>Tac	p.H608Y	LTK_ENST00000355166.5_Missense_Mutation_p.H547Y|LTK_ENST00000453182.2_Missense_Mutation_p.H478Y|LTK_ENST00000561619.1_Missense_Mutation_p.H306Y	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	608	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.H608Y(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		CTCACCAGGTGTGGCCGACTG	0.612										TSP Lung(18;0.14)																											p.H608Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1822T	15						.						52.0	58.0	56.0					15																	41797604		2203	4300	6503	39584896	SO:0001583	missense	4058	exon14			D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"""leukocyte tyrosine kinase"""			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.1822C>T	15.37:g.41797604G>A	ENSP00000263800:p.His608Tyr		39584896	NM_002344	A6NNJ8|B4DL89|E9PFX4	Missense_Mutation	SNP	ENST00000263800.6	37	CCDS10077.1	.	.	.	.	.	.	.	.	.	.	G	8.377	0.836699	0.16891	.	.	ENSG00000062524	ENST00000355166;ENST00000263800;ENST00000453182	D;D;T	0.88818	-2.43;-2.43;-1.02	4.2	2.21	0.28008	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.79587	0.4471	N	0.20986	0.625	0.20873	N	0.999839	B;B;B;B	0.32968	0.392;0.002;0.151;0.009	B;B;B;B	0.33960	0.173;0.005;0.062;0.012	T	0.70468	-0.4863	9	0.56958	D	0.05	.	4.8136	0.13356	0.1831:0.0:0.6416:0.1754	.	478;478;547;608	E9PFX4;B4DL89;P29376-4;P29376	.;.;.;LTK_HUMAN	Y	547;608;478	ENSP00000347293:H547Y;ENSP00000263800:H608Y;ENSP00000392196:H478Y	ENSP00000263800:H608Y	H	-	1	0	LTK	39584896	0.001000	0.12720	0.035000	0.18076	0.592000	0.36648	0.770000	0.26618	0.943000	0.37553	0.491000	0.48974	CAC		0.612	LTK-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252690.2		
MGA	23269	broad.mit.edu	37	15	42028861	42028861	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr15:42028861C>T	ENST00000570161.1	+	12	4399	c.4399C>T	c.(4399-4401)Cgt>Tgt	p.R1467C	MGA_ENST00000389936.4_Missense_Mutation_p.R1467C|MGA_ENST00000566586.1_Missense_Mutation_p.R1467C|MGA_ENST00000219905.7_Missense_Mutation_p.R1467C|MGA_ENST00000545763.1_Missense_Mutation_p.R1467C			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.R1467C(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GGCCTATAAACGTAAACCCAG	0.443																																					p.R1467C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4399T	15						.						31.0	29.0	30.0					15																	42028861		1906	4101	6007	39816153	SO:0001583	missense	23269	exon13			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.4399C>T	15.37:g.42028861C>T	ENSP00000457035:p.Arg1467Cys		39816153	NM_001164273	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	C	17.91	3.503666	0.64298	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.84873	-1.9;-1.91;-1.89	5.68	5.68	0.88126	.	0.349405	0.24476	N	0.038191	D	0.86447	0.5935	N	0.19112	0.55	0.39215	D	0.96339	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.925	D	0.88386	0.3005	10	0.87932	D	0	.	13.253	0.60062	0.0:0.9245:0.0:0.0755	.	1467;1467	F5H7K2;E7ENI0	.;.	C	1467	ENSP00000219905:R1467C;ENSP00000374586:R1467C;ENSP00000442467:R1467C	ENSP00000219905:R1467C	R	+	1	0	MGA	39816153	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.644000	0.46613	2.670000	0.90874	0.585000	0.79938	CGT		0.443	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1	
PLA2G4D	283748	broad.mit.edu	37	15	42363330	42363330	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	T	T	T	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr15:42363330T>C	ENST00000290472.3	-	17	1961	c.1867A>G	c.(1867-1869)Acc>Gcc	p.T623A		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	623	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CCTGCCCAGGTGGAGAAGTCT	0.642																																					p.T623A												.	.	0			c.A1867G	15						.						32.0	34.0	33.0					15																	42363330		2203	4297	6500	40150622	SO:0001583	missense	283748	exon17			AB090876	CCDS32203.1	15q14	2008-09-19				ENSG00000159337	3.1.1.4		30038	protein-coding gene	gene with protein product		612864				14709560	Standard	NM_178034		Approved	cPLA2delta	uc001zox.3	Q86XP0		ENST00000290472.3:c.1867A>G	15.37:g.42363330T>C	ENSP00000290472:p.Thr623Ala		40150622	NM_178034	Q8N176	Missense_Mutation	SNP	ENST00000290472.3	37	CCDS32203.1	.	.	.	.	.	.	.	.	.	.	T	11.54	1.669114	0.29604	.	.	ENSG00000159337	ENST00000290472	T	0.10005	2.92	5.27	5.27	0.74061	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	0.073622	0.53938	D	0.000050	T	0.08358	0.0208	L	0.39692	1.235	0.33076	D	0.535937	P	0.38020	0.615	B	0.29267	0.1	T	0.20706	-1.0267	10	0.17369	T	0.5	-20.247	13.4504	0.61167	0.0:0.0:0.0:1.0	.	623	Q86XP0	PA24D_HUMAN	A	623	ENSP00000290472:T623A	ENSP00000290472:T623A	T	-	1	0	PLA2G4D	40150622	0.998000	0.40836	0.999000	0.59377	0.714000	0.41099	3.486000	0.53215	2.001000	0.58596	0.533000	0.62120	ACC		0.642	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419317.1	NM_178034	
PLA2G4F	255189	broad.mit.edu	37	15	42434282	42434282	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr15:42434282G>A	ENST00000382396.4	-	20	2536	c.2450C>T	c.(2449-2451)gCc>gTc	p.A817V	PLA2G4F_ENST00000397272.3_Missense_Mutation_p.A819V			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	817	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)	p.A817V(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		TCGACTGAGGGCCACCAGCCG	0.592																																					p.A817V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2450T	15						.						77.0	70.0	72.0					15																	42434282		2203	4299	6502	40221574	SO:0001583	missense	255189	exon20				CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.2450C>T	15.37:g.42434282G>A	ENSP00000371833:p.Ala817Val		40221574	NM_213600	Q6ZMC8	Missense_Mutation	SNP	ENST00000382396.4	37	CCDS32204.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.684980	0.47991	.	.	ENSG00000168907	ENST00000290497;ENST00000397272;ENST00000382396;ENST00000443825	T;T	0.04551	3.6;3.6	5.21	4.24	0.50183	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (1);	0.183365	0.35903	N	0.002904	T	0.06325	0.0163	L	0.58101	1.795	0.26537	N	0.974154	P;B;P	0.35077	0.483;0.172;0.483	B;B;B	0.27887	0.084;0.065;0.084	T	0.21211	-1.0252	10	0.36615	T	0.2	-22.8122	14.9129	0.70773	0.0:0.0:0.8024:0.1976	.	604;819;817	A2RRC4;C9J281;Q68DD2	.;.;PA24F_HUMAN	V	813;819;817;817	ENSP00000380442:A819V;ENSP00000371833:A817V	ENSP00000290497:A813V	A	-	2	0	PLA2G4F	40221574	0.053000	0.20554	1.000000	0.80357	0.949000	0.60115	0.247000	0.18179	2.616000	0.88540	0.655000	0.94253	GCC		0.592	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000420463.1	NM_213600	
VPS39	23339	broad.mit.edu	37	15	42459013	42459013	+	Silent	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr15:42459013A>G	ENST00000348544.4	-	15	1508	c.1509T>C	c.(1507-1509)agT>agC	p.S503S	VPS39_ENST00000318006.5_Silent_p.S492S			Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	503					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	small GTPase regulator activity (GO:0005083)	p.S492S(1)		breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		TGATAAGCTCACTGTACTTGT	0.552																																					p.S492S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1476C	15						.						156.0	136.0	143.0					15																	42459013		2203	4299	6502	40246305	SO:0001819	synonymous_variant	23339	exon14			AF280814	CCDS10083.1, CCDS73710.1	15q14	2008-02-05	2006-12-19		ENSG00000166887	ENSG00000166887			20593	protein-coding gene	gene with protein product		612188	"""vacuolar protein sorting 39 (yeast)"""			11448994	Standard	XM_005254259		Approved	KIAA0770, VAM6	uc001zpc.3	Q96JC1	OTTHUMG00000130467	ENST00000348544.4:c.1509T>C	15.37:g.42459013A>G			40246305	NM_015289	O94869|Q71SQ6|Q7Z3V3|Q96B93|Q96RM0	Silent	SNP	ENST00000348544.4	37	CCDS10083.1																																																																																				0.552	VPS39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000420472.1	NM_015289	
SEMA6D	80031	broad.mit.edu	37	15	48056400	48056400	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr15:48056400G>A	ENST00000316364.5	+	11	1434	c.995G>A	c.(994-996)aGc>aAc	p.S332N	SEMA6D_ENST00000389432.2_Missense_Mutation_p.S332N|SEMA6D_ENST00000558014.1_Missense_Mutation_p.S332N|SEMA6D_ENST00000358066.4_Missense_Mutation_p.S332N|SEMA6D_ENST00000389428.3_Missense_Mutation_p.S332N|SEMA6D_ENST00000355997.3_Missense_Mutation_p.S332N|SEMA6D_ENST00000558816.1_Missense_Mutation_p.S332N|SEMA6D_ENST00000537942.1_Missense_Mutation_p.S332N|SEMA6D_ENST00000354744.4_Missense_Mutation_p.S332N|SEMA6D_ENST00000389425.3_Missense_Mutation_p.S332N|SEMA6D_ENST00000536845.2_Missense_Mutation_p.S332N|SEMA6D_ENST00000389433.2_Missense_Mutation_p.S332N	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	332	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.S332T(2)|p.S332N(1)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TGTGCATTTAGCATGGATGAC	0.458																																					p.S332N												.	.	3	Substitution - Missense(3)	lung(2)|large_intestine(1)	c.G995A	15						.						124.0	113.0	117.0					15																	48056400		2198	4297	6495	45843692	SO:0001583	missense	80031	exon11			AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.995G>A	15.37:g.48056400G>A	ENSP00000324857:p.Ser332Asn		45843692	NM_153619	A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.490852	0.44249	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428;ENST00000355997;ENST00000389425	T;T;T;T;T;T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79	6.08	6.08	0.98989	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.081660	0.85682	D	0.000000	T	0.32436	0.0829	L	0.33245	0.995	0.54753	D	0.999984	D;P;P;B;D	0.54047	0.964;0.607;0.552;0.233;0.964	P;B;B;B;P	0.58454	0.839;0.395;0.199;0.393;0.775	T	0.01356	-1.1376	10	0.07482	T	0.82	.	16.0688	0.80909	0.0:0.1332:0.8668:0.0	.	332;332;332;332;332	Q8NFY4-3;A6NM95;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;.;SEM6D_HUMAN;.	N	332	ENSP00000442040:S332N;ENSP00000446152:S332N;ENSP00000324857:S332N;ENSP00000374084:S332N;ENSP00000374083:S332N;ENSP00000346786:S332N;ENSP00000350770:S332N;ENSP00000374079:S332N;ENSP00000348276:S332N;ENSP00000374076:S332N	ENSP00000324857:S332N	S	+	2	0	SEMA6D	45843692	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	2.715000	0.47210	2.894000	0.99253	0.655000	0.94253	AGC		0.458	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966	
HDC	3067	broad.mit.edu	37	15	50535154	50535154	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr15:50535154C>T	ENST00000267845.3	-	12	1694	c.1292G>A	c.(1291-1293)gGc>gAc	p.G431D	HDC_ENST00000543581.1_Missense_Mutation_p.G398D|RN7SL494P_ENST00000461517.2_RNA	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)		p.G431D(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		GAAGAGACGGCCAGCTTTAGC	0.463																																					p.G431D	GBM(95;1627 1936 6910 9570)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1292A	15						.						36.0	40.0	39.0					15																	50535154		2193	4295	6488	48322446	SO:0001583	missense	3067	exon12				CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.1292G>A	15.37:g.50535154C>T	ENSP00000267845:p.Gly431Asp		48322446	NM_002112		Missense_Mutation	SNP	ENST00000267845.3	37	CCDS10134.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.819610	0.90873	.	.	ENSG00000140287	ENST00000267845;ENST00000543581	T;T	0.58940	0.3;0.3	5.95	5.95	0.96441	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.157871	0.64402	D	0.000020	T	0.78136	0.4236	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78685	-0.2108	10	0.87932	D	0	-33.8222	20.3789	0.98926	0.0:1.0:0.0:0.0	.	398;431	B7ZM01;P19113	.;DCHS_HUMAN	D	431;398	ENSP00000267845:G431D;ENSP00000440252:G398D	ENSP00000267845:G431D	G	-	2	0	HDC	48322446	1.000000	0.71417	0.975000	0.42487	0.935000	0.57460	7.283000	0.78640	2.826000	0.97356	0.563000	0.77884	GGC		0.463	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254540.1		
ZNF280D	54816	broad.mit.edu	37	15	56970879	56970879	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr15:56970879G>A	ENST00000267807.7	-	11	1361	c.1145C>T	c.(1144-1146)aCg>aTg	p.T382M	ZNF280D_ENST00000559237.1_Missense_Mutation_p.T369M|ZNF280D_ENST00000559000.1_Missense_Mutation_p.T369M|ZNF280D_ENST00000396245.1_Missense_Mutation_p.T86M	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	382					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.T382M(1)		endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		TTCATGGGGCGTATGTGTACT	0.398																																					p.T382M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1145T	15						.						180.0	155.0	164.0					15																	56970879		2192	4292	6484	54758171	SO:0001583	missense	54816	exon11			AB046804	CCDS32245.1, CCDS42041.1, CCDS58364.1	15q21.2	2008-05-02	2007-09-20	2007-09-20					25953	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 4 (Drosophila)"""	SUHW4		10997877	Standard	XM_005254481		Approved	FLJ20086, ZNF634	uc002adu.3	Q6N043		ENST00000267807.7:c.1145C>T	15.37:g.56970879G>A	ENSP00000267807:p.Thr382Met		54758171	NM_017661	A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Missense_Mutation	SNP	ENST00000267807.7	37	CCDS32245.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.811819	0.50527	.	.	ENSG00000137871	ENST00000267807;ENST00000455329;ENST00000260435;ENST00000396245	T;T	0.05139	3.49;4.04	5.37	4.39	0.52855	Zinc finger, C2H2 (1);	0.646793	0.12655	U	0.450129	T	0.35653	0.0939	M	0.93854	3.465	0.40330	D	0.978918	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	T	0.39333	-0.9619	10	0.87932	D	0	-10.6881	14.6204	0.68579	0.0:0.1463:0.8537:0.0	.	445;382	B4DHL1;Q6N043	.;Z280D_HUMAN	M	382;369;218;86	ENSP00000267807:T382M;ENSP00000379545:T86M	ENSP00000260435:T218M	T	-	2	0	ZNF280D	54758171	1.000000	0.71417	0.935000	0.37517	0.590000	0.36582	5.379000	0.66196	2.514000	0.84764	0.557000	0.71058	ACG		0.398	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418891.2	XM_370867	
LIPC	3990	broad.mit.edu	37	15	58838046	58838046	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr15:58838046A>G	ENST00000356113.6	+	7	1295	c.680A>G	c.(679-681)cAc>cGc	p.H227R	LIPC_ENST00000414170.3_Missense_Mutation_p.H227R|LIPC_ENST00000433326.2_Missense_Mutation_p.H166R|LIPC_ENST00000299022.5_Missense_Mutation_p.H227R			P11150	LIPC_HUMAN	lipase, hepatic	227					cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|fatty acid biosynthetic process (GO:0006633)|high-density lipoprotein particle remodeling (GO:0034375)|intermediate-density lipoprotein particle remodeling (GO:0034373)|low-density lipoprotein particle remodeling (GO:0034374)|phosphatidylcholine catabolic process (GO:0034638)|reverse cholesterol transport (GO:0043691)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|low-density lipoprotein particle binding (GO:0030169)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)	p.H227R(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		ACCCGGGAGCACATGGGCCTG	0.552																																					p.H227R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A680G	15						.						107.0	102.0	103.0					15																	58838046		2192	4292	6484	56625338	SO:0001583	missense	3990	exon5				CCDS10166.1	15q21-q23	2012-10-02			ENSG00000166035	ENSG00000166035	3.1.1.3		6619	protein-coding gene	gene with protein product		151670					Standard	NM_000236		Approved	HL, HTGL	uc002afa.2	P11150	OTTHUMG00000132632	ENST00000356113.6:c.680A>G	15.37:g.58838046A>G	ENSP00000348425:p.His227Arg		56625338	NM_000236	A2RUB4|A8K9B6|O43571|P78529|Q99465	Missense_Mutation	SNP	ENST00000356113.6	37	CCDS10166.1	.	.	.	.	.	.	.	.	.	.	A	11.57	1.679503	0.29783	.	.	ENSG00000166035	ENST00000356113;ENST00000414170;ENST00000299022;ENST00000433326	D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7	5.67	5.67	0.87782	Lipase, N-terminal (1);	0.163924	0.56097	D	0.000032	D	0.83889	0.5352	N	0.25380	0.74	0.42735	D	0.993726	B;B	0.22983	0.022;0.078	B;B	0.22152	0.021;0.038	T	0.79708	-0.1690	10	0.10111	T	0.7	.	15.8966	0.79338	1.0:0.0:0.0:0.0	.	166;227	E7EUK6;P11150	.;LIPC_HUMAN	R	227;227;227;166	ENSP00000348425:H227R;ENSP00000395569:H227R;ENSP00000299022:H227R;ENSP00000395002:H166R	ENSP00000299022:H227R	H	+	2	0	LIPC	56625338	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.562000	0.53777	2.153000	0.67306	0.460000	0.39030	CAC		0.552	LIPC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416209.1		
BNIP2	663	broad.mit.edu	37	15	59970283	59970283	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr15:59970283T>C	ENST00000607373.1	-	5	501	c.299A>G	c.(298-300)gAt>gGt	p.D100G	BNIP2_ENST00000267859.3_Missense_Mutation_p.D221G|BNIP2_ENST00000415213.2_Missense_Mutation_p.D162G	NM_004330.2	NP_004321.2	Q12982	BNIP2_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 2	100					apoptotic process (GO:0006915)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|positive regulation of GTPase activity (GO:0043547)|positive regulation of muscle cell differentiation (GO:0051149)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)	p.D100G(1)		NS(1)|large_intestine(2)|lung(5)|ovary(1)	9						TTTTGGAAGATCATCTGTCAA	0.343																																					p.D221G	Ovarian(174;1936 1978 6671 8240 38212)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A662G	15						.						89.0	80.0	83.0					15																	59970283		2190	4290	6480	57757575	SO:0001583	missense	663	exon5			U15173	CCDS10174.2	15q21.3	2008-07-18	2002-08-29		ENSG00000140299	ENSG00000140299			1083	protein-coding gene	gene with protein product		603292	"""BCL2/adenovirus E1B 19kD-interacting protein 2"""			7954800	Standard	NM_004330		Approved	Nip2, BNIP-2	uc010uhc.2	Q12982	OTTHUMG00000132727	ENST00000607373.1:c.299A>G	15.37:g.59970283T>C	ENSP00000475320:p.Asp100Gly		57757575	NM_004330	B4DS94	Missense_Mutation	SNP	ENST00000607373.1	37		.	.	.	.	.	.	.	.	.	.	T	23.3	4.398588	0.83120	.	.	ENSG00000140299	ENST00000267859;ENST00000415213	T;T	0.50001	0.76;0.81	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.68632	0.3022	M	0.73598	2.24	0.80722	D	1	D;B	0.89917	1.0;0.094	D;B	0.79108	0.992;0.18	T	0.69928	-0.5012	9	.	.	.	-27.4585	15.9998	0.80285	0.0:0.0:0.0:1.0	.	100;162	Q12982;Q12982-2	BNIP2_HUMAN;.	G	221;162	ENSP00000267859:D221G;ENSP00000412767:D162G	.	D	-	2	0	BNIP2	57757575	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.484000	0.81180	2.189000	0.69895	0.533000	0.62120	GAT		0.343	BNIP2-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470740.1	NM_004330	
USP3	9960	broad.mit.edu	37	15	63862651	63862651	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr15:63862651G>A	ENST00000380324.3	+	9	910	c.781G>A	c.(781-783)Gcc>Acc	p.A261T	USP3-AS1_ENST00000559861.1_RNA|USP3-AS1_ENST00000559357.1_RNA|USP3_ENST00000558285.1_Missense_Mutation_p.A244T|USP3_ENST00000536001.1_3'UTR|USP3_ENST00000268049.7_Missense_Mutation_p.A239T|USP3-AS1_ENST00000560350.1_RNA|USP3_ENST00000540797.1_Missense_Mutation_p.A217T|USP3_ENST00000539772.1_Missense_Mutation_p.A12T|USP3_ENST00000559711.1_Missense_Mutation_p.A172T	NM_006537.3	NP_006528.2	Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	261	USP.				DNA repair (GO:0006281)|histone deubiquitination (GO:0016578)|mitotic cell cycle (GO:0000278)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear chromatin (GO:0000790)	histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.A261T(1)		endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		ACAGCAGGACGCCCATGAATT	0.532																																					p.A261T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G781A	15						.						87.0	78.0	81.0					15																	63862651		2203	4300	6503	61649704	SO:0001583	missense	9960	exon9			AF073344	CCDS32265.1, CCDS58370.1	15q22.3	2008-04-11	2005-08-08			ENSG00000140455		"""Ubiquitin-specific peptidases"""	12626	protein-coding gene	gene with protein product		604728	"""ubiquitin specific protease 3"""			12838346	Standard	NM_006537		Approved		uc002amf.4	Q9Y6I4		ENST00000380324.3:c.781G>A	15.37:g.63862651G>A	ENSP00000369681:p.Ala261Thr		61649704	NM_006537	B4DVU5|F5H1A6|Q8WVD0	Missense_Mutation	SNP	ENST00000380324.3	37	CCDS32265.1	.	.	.	.	.	.	.	.	.	.	G	36	5.727272	0.96847	.	.	ENSG00000140455	ENST00000540797;ENST00000380324;ENST00000268049;ENST00000539772;ENST00000536848;ENST00000538686	T;T;T;T	0.05513	3.43;3.43;3.43;3.43	5.95	5.95	0.96441	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.045131	0.85682	D	0.000000	T	0.30166	0.0756	M	0.82323	2.585	0.80722	D	1	D;D;D;D	0.76494	0.998;0.999;0.999;0.999	P;D;D;D	0.67382	0.872;0.946;0.951;0.922	T	0.01027	-1.1476	10	0.87932	D	0	.	20.3802	0.98930	0.0:0.0:1.0:0.0	.	217;217;239;261	F5H1A6;B4DVU5;Q6JHV3;Q9Y6I4	.;.;.;UBP3_HUMAN	T	217;261;239;12;176;92	ENSP00000445828:A217T;ENSP00000369681:A261T;ENSP00000268049:A239T;ENSP00000445642:A12T	ENSP00000268049:A239T	A	+	1	0	USP3	61649704	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	9.776000	0.99001	2.822000	0.97130	0.563000	0.77884	GCC		0.532	USP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417773.1		
ZNF609	23060	broad.mit.edu	37	15	64973532	64973532	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr15:64973532C>T	ENST00000326648.3	+	8	4315	c.4187C>T	c.(4186-4188)gCc>gTc	p.A1396V		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	1396						nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.A1396V(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCCATTGTTGCCAGCCAACAA	0.463											OREG0023182	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A1396V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4187T	15						.						211.0	209.0	210.0					15																	64973532		2202	4299	6501	62760585	SO:0001583	missense	23060	exon8			BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.4187C>T	15.37:g.64973532C>T	ENSP00000316527:p.Ala1396Val	1080	62760585	NM_015042	Q0D2I2	Missense_Mutation	SNP	ENST00000326648.3	37	CCDS32270.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.958893	0.74016	.	.	ENSG00000180357	ENST00000326648	T	0.55234	0.53	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.68109	0.2965	L	0.61218	1.895	0.80722	D	1	D	0.60575	0.988	P	0.58721	0.844	T	0.71159	-0.4674	10	0.87932	D	0	-14.8863	19.2581	0.93955	0.0:1.0:0.0:0.0	.	1396	O15014	ZN609_HUMAN	V	1396	ENSP00000316527:A1396V	ENSP00000316527:A1396V	A	+	2	0	ZNF609	62760585	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.180000	0.58296	2.547000	0.85894	0.655000	0.94253	GCC		0.463	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833	
PARP16	54956	broad.mit.edu	37	15	65563273	65563273	+	Splice_Site	SNP	C	C	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr15:65563273C>A	ENST00000261888.6	-	2	757	c.312G>T	c.(310-312)gaG>gaT	p.E104D	PARP16_ENST00000444347.2_Intron|PARP16_ENST00000558873.1_5'UTR	NM_017851.4	NP_060321.3	Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	104	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cell death (GO:0060548)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum tubular network (GO:0071782)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)	kinase binding (GO:0019900)|NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|protein serine/threonine kinase activator activity (GO:0043539)	p.E104D(1)		kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						AAAGTCTCACCTCTGCCTTCC	0.542																																					p.E104D	NSCLC(50;885 1163 13509 21242 41978)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G312T	15						.						309.0	305.0	306.0					15																	65563273		2201	4299	6500	63350326	SO:0001630	splice_region_variant	54956	exon2			AK000516	CCDS10204.1	15q22.2	2010-02-16	2004-08-25	2004-08-25	ENSG00000138617	ENSG00000138617		"""Poly (ADP-ribose) polymerases"""	26040	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 30"""	C15orf30		15273990	Standard	NM_017851		Approved	FLJ20509, FLJ25281, pART15	uc002aoq.3	Q8N5Y8	OTTHUMG00000133138	ENST00000261888.6:c.312+1G>T	15.37:g.65563273C>A			63350326	NM_017851	Q6PK64|Q9NX03	Missense_Mutation	SNP	ENST00000261888.6	37	CCDS10204.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.156472	0.57259	.	.	ENSG00000138617	ENST00000261888	T	0.19532	2.14	5.8	5.8	0.92144	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.048496	0.85682	D	0.000000	T	0.21801	0.0525	L	0.39633	1.23	0.80722	D	1	B;B	0.14438	0.008;0.01	B;B	0.23150	0.026;0.044	T	0.04053	-1.0981	9	.	.	.	-29.5458	19.0588	0.93078	0.0:1.0:0.0:0.0	.	104;104	Q8N5Y8-3;Q8N5Y8	.;PAR16_HUMAN	D	104	ENSP00000261888:E104D	.	E	-	3	2	PARP16	63350326	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	6.353000	0.73032	2.744000	0.94065	0.655000	0.94253	GAG		0.542	PARP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256827.2	NM_017851	Missense_Mutation
RAB11A	8766	broad.mit.edu	37	15	66170173	66170173	+	Silent	SNP	C	C	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr15:66170173C>A	ENST00000261890.2	+	3	438	c.310C>A	c.(310-312)Cga>Aga	p.R104R	RAB11A_ENST00000565075.1_Silent_p.R104R|RAB11A_ENST00000564910.1_Silent_p.R34R|RAB11A_ENST00000569896.1_Silent_p.R104R|RAB11A_ENST00000435304.2_Silent_p.R104R	NM_001206836.1|NM_004663.4	NP_001193765.1|NP_004654.1	P62491	RB11A_HUMAN	RAB11A, member RAS oncogene family	104					cytokinesis (GO:0000910)|establishment of protein localization to membrane (GO:0090150)|exosomal secretion (GO:1990182)|GTP catabolic process (GO:0006184)|melanosome transport (GO:0032402)|multivesicular body assembly (GO:0036258)|neuron projection development (GO:0031175)|plasma membrane to endosome transport (GO:0048227)|positive regulation of axon extension (GO:0045773)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of multivesicular body size (GO:0010796)|regulation of protein transport (GO:0051223)|small GTPase mediated signal transduction (GO:0007264)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	axon (GO:0030424)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)|syntaxin binding (GO:0019905)	p.R104R(1)		kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5						AAATGTAGAGCGATGGCTGAA	0.383																																					p.R104R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C310A	15						.						192.0	168.0	176.0					15																	66170173		2201	4299	6500	63957227	SO:0001819	synonymous_variant	8766	exon3			X56740	CCDS10212.1, CCDS58373.1	15q22.31	2008-05-14			ENSG00000103769	ENSG00000103769		"""RAB, member RAS oncogene"""	9760	protein-coding gene	gene with protein product		605570				1704119, 9662449	Standard	NM_004663		Approved	YL8	uc002apk.3	P62491	OTTHUMG00000133162	ENST00000261890.2:c.310C>A	15.37:g.66170173C>A			63957227	NM_004663	B2R4B6|B4DT13|P24410|Q5TZN9|Q9JLX1	Silent	SNP	ENST00000261890.2	37	CCDS10212.1																																																																																				0.383	RAB11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256864.1		
IQCH	64799	broad.mit.edu	37	15	67677302	67677302	+	Silent	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr15:67677302T>C	ENST00000335894.4	+	11	1467	c.1401T>C	c.(1399-1401)atT>atC	p.I467I	IQCH_ENST00000546225.1_Silent_p.I215I|IQCH_ENST00000358767.3_Silent_p.I294I|IQCH_ENST00000360277.4_Silent_p.I219I	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	467								p.I467I(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		GAGAACATATTGCCGATTTCA	0.408																																					p.I467I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1401C	15						.						324.0	308.0	313.0					15																	67677302		2201	4299	6500	65464356	SO:0001819	synonymous_variant	64799	exon11			AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.1401T>C	15.37:g.67677302T>C			65464356	NM_001031715	A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Silent	SNP	ENST00000335894.4	37	CCDS32273.1																																																																																				0.408	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256969.1	NM_022784	
MYO9A	4649	broad.mit.edu	37	15	72152109	72152109	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr15:72152109G>A	ENST00000356056.5	-	34	6592	c.6120C>T	c.(6118-6120)tgC>tgT	p.C2040C	MYO9A_ENST00000444904.1_Silent_p.C2021C|RNA5SP399_ENST00000364003.1_RNA|MYO9A_ENST00000564571.1_Silent_p.C2040C|MYO9A_ENST00000424560.1_Silent_p.C2111C	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2040	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)	p.C2040C(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTTTCAGACAGCACTTCTTAT	0.348																																					p.C2040C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C6120T	15						.						121.0	120.0	120.0					15																	72152109		2199	4297	6496	69939163	SO:0001819	synonymous_variant	4649	exon34			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.6120C>T	15.37:g.72152109G>A			69939163	NM_006901	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Silent	SNP	ENST00000356056.5	37	CCDS10239.1																																																																																				0.348	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901	
NEO1	4756	broad.mit.edu	37	15	73564872	73564872	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr15:73564872G>T	ENST00000339362.5	+	20	3381	c.2934G>T	c.(2932-2934)caG>caT	p.Q978H	NEO1_ENST00000560262.1_Missense_Mutation_p.Q978H|NEO1_ENST00000558964.1_Missense_Mutation_p.Q978H|NEO1_ENST00000261908.6_Missense_Mutation_p.Q978H			Q92859	NEO1_HUMAN	neogenin 1	978	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.Q978H(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						TGAATTGGCAGCCTCCCTCCG	0.423																																					p.Q978H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2934T	15						.						79.0	75.0	76.0					15																	73564872		2198	4297	6495	71351925	SO:0001583	missense	4756	exon19			U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.2934G>T	15.37:g.73564872G>T	ENSP00000341198:p.Gln978His		71351925	NM_001172623	B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	ENST00000339362.5	37	CCDS10247.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039851	0.75732	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	T;T	0.58060	0.36;0.36	5.88	1.95	0.26073	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.78027	0.4219	H	0.95917	3.74	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.995;0.995;0.997	T	0.81493	-0.0908	10	0.52906	T	0.07	-11.9523	10.8091	0.46535	0.253:0.0:0.747:0.0	.	978;978;700;978	B7ZKM9;B7ZKN0;E7EUX3;Q92859	.;.;.;NEO1_HUMAN	H	978;700;978	ENSP00000341198:Q978H;ENSP00000261908:Q978H	ENSP00000261908:Q978H	Q	+	3	2	NEO1	71351925	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.824000	0.62701	0.841000	0.35020	0.561000	0.74099	CAG		0.423	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499	
ISLR	3671	broad.mit.edu	37	15	74467619	74467619	+	Silent	SNP	C	C	T	rs367852419	byFrequency	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr15:74467619C>T	ENST00000249842.3	+	2	777	c.420C>T	c.(418-420)gaC>gaT	p.D140D	ISLR_ENST00000395118.1_Silent_p.D140D|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	140					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)		p.D140D(1)		central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						TCCCCCGCGACGCCTTCCGCA	0.612													C|||	11	0.00219649	0.0	0.0	5008	,	,		19571	0.0		0.0	False		,,,				2504	0.0112				p.D140D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C420T	15						.						84.0	82.0	83.0					15																	74467619		2198	4297	6495	72254672	SO:0001819	synonymous_variant	3671	exon2			AB003184	CCDS10260.1	15q23-q24	2013-01-11			ENSG00000129009	ENSG00000129009		"""Immunoglobulin superfamily / I-set domain containing"""	6133	protein-coding gene	gene with protein product		602059				9325048	Standard	NM_005545		Approved	HsT17563	uc002axh.1	O14498	OTTHUMG00000137623	ENST00000249842.3:c.420C>T	15.37:g.74467619C>T			72254672	NM_201526		Silent	SNP	ENST00000249842.3	37	CCDS10260.1																																																																																				0.612	ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269044.1	NM_005545	
CYP1A1	1543	broad.mit.edu	37	15	75013576	75013576	+	Missense_Mutation	SNP	C	C	T	rs201174966	byFrequency	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr15:75013576C>T	ENST00000379727.3	-	5	1328	c.1130G>A	c.(1129-1131)cGa>cAa	p.R377Q	CYP1A1_ENST00000395049.4_Missense_Mutation_p.R377Q|CYP1A1_ENST00000564596.1_Missense_Mutation_p.R116Q|CYP1A1_ENST00000567032.1_Missense_Mutation_p.R377Q|CYP1A1_ENST00000395048.2_Missense_Mutation_p.R377Q			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	377					9-cis-retinoic acid biosynthetic process (GO:0042904)|aging (GO:0007568)|amine metabolic process (GO:0009308)|arachidonic acid metabolic process (GO:0019369)|camera-type eye development (GO:0043010)|cell proliferation (GO:0008283)|cellular lipid metabolic process (GO:0044255)|cellular response to organic cyclic compound (GO:0071407)|coumarin metabolic process (GO:0009804)|dibenzo-p-dioxin catabolic process (GO:0019341)|digestive tract development (GO:0048565)|drug metabolic process (GO:0017144)|embryo development ending in birth or egg hatching (GO:0009792)|epoxygenase P450 pathway (GO:0019373)|flavonoid metabolic process (GO:0009812)|hepatocyte differentiation (GO:0070365)|hydrogen peroxide biosynthetic process (GO:0050665)|insecticide metabolic process (GO:0017143)|maternal process involved in parturition (GO:0060137)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|response to antibiotic (GO:0046677)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to food (GO:0032094)|response to herbicide (GO:0009635)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to iron(III) ion (GO:0010041)|response to lipopolysaccharide (GO:0032496)|response to nematode (GO:0009624)|response to virus (GO:0009615)|response to vitamin A (GO:0033189)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|demethylase activity (GO:0032451)|flavonoid 3'-monooxygenase activity (GO:0016711)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on diphenols and related substances as donors (GO:0016679)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)|vitamin D 24-hydroxylase activity (GO:0070576)	p.R377Q(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Acetaminophen(DB00316)|Albendazole(DB00518)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Caffeine(DB00201)|Carvedilol(DB01136)|Chloroquine(DB00608)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Clenbuterol(DB01407)|Clobetasol propionate(DB01013)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonidine(DB00575)|Clozapine(DB00363)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Dexamethasone(DB01234)|Dexmedetomidine(DB00633)|Diclofenac(DB00586)|Dicyclomine(DB00804)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Ethanol(DB00898)|Flunarizine(DB04841)|Fluorescein(DB00693)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Granisetron(DB00889)|Haloperidol(DB00502)|Isoprenaline(DB01064)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lorcaserin(DB04871)|Mebendazole(DB00643)|Melatonin(DB01065)|Menadione(DB00170)|Methoxsalen(DB00553)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitroprusside(DB00325)|Norfloxacin(DB01059)|Omeprazole(DB00338)|Ouabain(DB01092)|Oxaliplatin(DB00526)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Prazosin(DB00457)|Primaquine(DB01087)|Progesterone(DB00396)|Propofol(DB00818)|Propranolol(DB00571)|Pyridoxine(DB00165)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Riluzole(DB00740)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiabendazole(DB00730)|Ticlopidine(DB00208)|Toremifene(DB00539)|Tretinoin(DB00755)|Vitamin A(DB00162)|Warfarin(DB00682)	GGAAGAGTGTCGGAAGGTCTC	0.567									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				C|||	2	0.000399361	0.0015	0.0	5008	,	,		18621	0.0		0.0	False		,,,				2504	0.0				p.R377Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1130A	15						.						105.0	105.0	105.0					15																	75013576		2197	4296	6493	72800629	SO:0001583	missense	1543	exon5	Familial Cancer Database	;AIMAH, Cushing disease, Adrenal, Familial	BC023019	CCDS10268.1	15q24.1	2007-12-14	2003-01-14		ENSG00000140465	ENSG00000140465	1.14.14.1	"""Cytochrome P450s"""	2595	protein-coding gene	gene with protein product		108330	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1"""	CYP1		15128046	Standard	NM_000499		Approved	P450DX, P1-450, P450-C, CP11	uc002ayp.4	P04798	OTTHUMG00000142812	ENST00000379727.3:c.1130G>A	15.37:g.75013576C>T	ENSP00000369050:p.Arg377Gln		72800629	NM_000499	A4F3V9|A4F3W0|Q53G18	Missense_Mutation	SNP	ENST00000379727.3	37	CCDS10268.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	34	5.298924	0.95574	.	.	ENSG00000140465	ENST00000379727;ENST00000395048;ENST00000395049;ENST00000268062	D;D;D	0.97480	-4.4;-4.4;-4.4	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.99223	0.9730	H	0.99182	4.46	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.73708	0.979;0.981	D	0.98660	1.0683	10	0.87932	D	0	.	18.1691	0.89739	0.0:1.0:0.0:0.0	.	377;377	E7EMT5;P04798	.;CP1A1_HUMAN	Q	377;377;377;349	ENSP00000369050:R377Q;ENSP00000378488:R377Q;ENSP00000378489:R377Q	ENSP00000268062:R349Q	R	-	2	0	CYP1A1	72800629	1.000000	0.71417	0.991000	0.47740	0.969000	0.65631	7.692000	0.84203	2.300000	0.77407	0.655000	0.94253	CGA		0.567	CYP1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286396.1	NM_000499	
DNAJA4	55466	broad.mit.edu	37	15	78566730	78566730	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr15:78566730C>T	ENST00000394852.3	+	4	800	c.610C>T	c.(610-612)Cgt>Tgt	p.R204C	DNAJA4_ENST00000343789.3_Missense_Mutation_p.R204C|DNAJA4_ENST00000446172.2_Missense_Mutation_p.R177C|DNAJA4_ENST00000394855.3_Missense_Mutation_p.R233C	NM_001130182.1	NP_001123654.1	Q8WW22	DNJA4_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 4	204					negative regulation of inclusion body assembly (GO:0090084)|protein refolding (GO:0042026)|response to heat (GO:0009408)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)	p.R204C(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						CAAGGTGATCCGTGAGAAGAA	0.582																																					p.R177C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C529T	15						.						57.0	52.0	54.0					15																	78566730		2196	4293	6489	76353785	SO:0001583	missense	55466	exon4			AF116663	CCDS10299.2, CCDS45316.1, CCDS45317.1	15q24.1	2011-09-02			ENSG00000140403	ENSG00000140403		"""Heat shock proteins / DNAJ (HSP40)"""	14885	protein-coding gene	gene with protein product						11147971	Standard	NM_018602		Approved	PRO1472	uc002bdi.3	Q8WW22	OTTHUMG00000143733	ENST00000394852.3:c.610C>T	15.37:g.78566730C>T	ENSP00000378321:p.Arg204Cys		76353785	NM_001130183	E9PDM9|Q6AW87|Q8N5Z4|Q8N7P2	Missense_Mutation	SNP	ENST00000394852.3	37	CCDS45316.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.547014	0.86022	.	.	ENSG00000140403	ENST00000394855;ENST00000343789;ENST00000394852;ENST00000446172	T;T;T;T	0.66280	0.03;0.04;0.04;-0.2	5.63	4.65	0.58169	HSP40/DnaJ peptide-binding (1);Heat shock protein DnaJ, cysteine-rich domain (3);	0.049613	0.85682	D	0.000000	D	0.83238	0.5211	H	0.94734	3.575	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.73708	0.981;0.981;0.981;0.969	D	0.87073	0.2161	10	0.72032	D	0.01	-11.0983	13.0615	0.59010	0.22:0.78:0.0:0.0	.	119;177;204;233	Q9P1H1;E9PDM9;Q8WW22;Q8WW22-2	.;.;DNJA4_HUMAN;.	C	233;204;204;177	ENSP00000378324:R233C;ENSP00000339581:R204C;ENSP00000378321:R204C;ENSP00000413499:R177C	ENSP00000339581:R204C	R	+	1	0	DNAJA4	76353785	1.000000	0.71417	0.637000	0.29366	0.982000	0.71751	3.956000	0.56722	2.652000	0.90054	0.655000	0.94253	CGT		0.582	DNAJA4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289801.1	NM_018602	
CHRNA3	1136	broad.mit.edu	37	15	78894011	78894011	+	Missense_Mutation	SNP	C	C	T	rs569381256		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr15:78894011C>T	ENST00000326828.5	-	5	1357	c.973G>A	c.(973-975)Gtg>Atg	p.V325M	CHRNA3_ENST00000348639.3_Missense_Mutation_p.V325M	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	325					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane potential (GO:0042391)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)	p.V325M(1)		central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18					Bupropion(DB01156)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)|Varenicline(DB01273)	ACGTTGAGCACGAAGACGGTG	0.522																																					p.V325M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G973A	15						.						165.0	145.0	152.0					15																	78894011		2196	4293	6489	76681066	SO:0001583	missense	1136	exon5				CCDS10305.1, CCDS53964.1	15q24	2012-02-11	2012-02-07		ENSG00000080644	ENSG00000080644		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1957	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 3 (neuronal)"""	118503	"""cholinergic receptor, nicotinic, alpha polypeptide 3"""			2004777	Standard	NM_000743		Approved		uc002bec.3	P32297	OTTHUMG00000143863	ENST00000326828.5:c.973G>A	15.37:g.78894011C>T	ENSP00000315602:p.Val325Met		76681066	NM_000743	Q15823|Q4KMN8|Q86U77|Q96RH3|Q99553|Q9BQ93|Q9BRR4	Missense_Mutation	SNP	ENST00000326828.5	37	CCDS10305.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.819926	0.90873	.	.	ENSG00000080644	ENST00000348639;ENST00000326828;ENST00000326858	T;T	0.80123	-1.34;-1.34	6.02	6.02	0.97574	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.93462	0.7914	H	0.95437	3.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94346	0.7575	10	0.87932	D	0	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	325;325	P32297;P32297-3	ACHA3_HUMAN;.	M	325;325;189	ENSP00000267951:V325M;ENSP00000315602:V325M	ENSP00000315602:V325M	V	-	1	0	CHRNA3	76681066	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	7.811000	0.86092	2.865000	0.98341	0.655000	0.94253	GTG		0.522	CHRNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290111.3		
RASGRF1	5923	broad.mit.edu	37	15	79339325	79339325	+	Missense_Mutation	SNP	C	C	T	rs538996118		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr15:79339325C>T	ENST00000419573.3	-	5	915	c.641G>A	c.(640-642)cGg>cAg	p.R214Q	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.R214Q	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	214	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R214Q(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CAGCCAGCCCCGCAGGAAGCT	0.627																																					p.R214Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G641A	15						.						58.0	55.0	56.0					15																	79339325		2196	4293	6489	77126380	SO:0001583	missense	5923	exon5			M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.641G>A	15.37:g.79339325C>T	ENSP00000405963:p.Arg214Gln		77126380	NM_002891	F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	C	33	5.219450	0.95139	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.71103	-0.54	4.51	4.51	0.55191	.	0.000000	0.64402	D	0.000002	T	0.82111	0.4966	M	0.68593	2.085	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.999;1.0	D	0.84386	0.0552	10	0.87932	D	0	.	14.7583	0.69583	0.0:1.0:0.0:0.0	.	214;214;214;214	A8K270;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	Q	214	ENSP00000405963:R214Q	ENSP00000378224:R214Q	R	-	2	0	RASGRF1	77126380	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.434000	0.80377	2.323000	0.78572	0.655000	0.94253	CGG		0.627	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891	
RASGRF1	5923	broad.mit.edu	37	15	79350801	79350801	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr15:79350801G>A	ENST00000419573.3	-	3	680	c.406C>T	c.(406-408)Cat>Tat	p.H136Y	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.H136Y	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	136					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.H136Y(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AATGCCTCATGCTCTGTGGCG	0.567																																					p.H136Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C406T	15						.						124.0	102.0	109.0					15																	79350801		2196	4293	6489	77137856	SO:0001583	missense	5923	exon3			M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.406C>T	15.37:g.79350801G>A	ENSP00000405963:p.His136Tyr		77137856	NM_002891	F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.508085	0.44558	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.42513	0.97	4.59	4.59	0.56863	.	0.129806	0.51477	D	0.000091	T	0.47637	0.1456	L	0.44542	1.39	0.80722	D	1	P;D;D;P	0.53312	0.932;0.959;0.959;0.934	B;P;P;P	0.51945	0.424;0.625;0.625;0.685	T	0.51100	-0.8748	10	0.72032	D	0.01	.	14.9273	0.70890	0.0:0.0:1.0:0.0	.	136;136;136;136	A8K270;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	Y	136	ENSP00000405963:H136Y	ENSP00000378224:H136Y	H	-	1	0	RASGRF1	77137856	1.000000	0.71417	0.983000	0.44433	0.107000	0.19398	6.040000	0.70980	2.366000	0.80165	0.542000	0.68232	CAT		0.567	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891	
ARNT2	9915	broad.mit.edu	37	15	80855475	80855475	+	Missense_Mutation	SNP	G	G	A	rs548713623		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr15:80855475G>A	ENST00000303329.4	+	12	1376	c.1211G>A	c.(1210-1212)cGc>cAc	p.R404H	ARNT2_ENST00000527771.1_Missense_Mutation_p.R393H|RP11-379K22.2_ENST00000558208.1_RNA|ARNT2_ENST00000533983.1_Missense_Mutation_p.R393H	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	404	PAC.				central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.R404H(1)		NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			TATCGATTTCGCACCAAGAAC	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		21055	0.0		0.0	False		,,,				2504	0.001				p.R404H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1211A	15						.						273.0	240.0	251.0					15																	80855475		2203	4300	6503	78642530	SO:0001583	missense	9915	exon12			AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"""Basic helix-loop-helix proteins"""	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.1211G>A	15.37:g.80855475G>A	ENSP00000307479:p.Arg404His		78642530	NM_014862	B4DIS7|O15024|Q8IYC2	Missense_Mutation	SNP	ENST00000303329.4	37	CCDS32307.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.463490	0.63513	.	.	ENSG00000172379	ENST00000360062;ENST00000303329;ENST00000540859	T	0.20200	2.09	4.26	4.26	0.50523	PAS fold-3 (1);PAS (1);	0.062814	0.64402	D	0.000004	T	0.28234	0.0697	M	0.87547	2.89	0.80722	D	1	P	0.36438	0.553	B	0.32533	0.147	T	0.25047	-1.0143	10	0.66056	D	0.02	.	10.5124	0.44870	0.0885:0.0:0.9115:0.0	.	404	Q9HBZ2	ARNT2_HUMAN	H	393;404;404	ENSP00000307479:R404H	ENSP00000307479:R404H	R	+	2	0	ARNT2	78642530	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.250000	0.72435	2.220000	0.72140	0.561000	0.74099	CGC		0.493	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2		
MAPKBP1	23005	broad.mit.edu	37	15	42114550	42114550	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr15:42114550delC	ENST00000456763.2	+	27	3373	c.3177delC	c.(3175-3177)agcfs	p.S1059fs	MAPKBP1_ENST00000221214.6_Frame_Shift_Del_p.S936fs|MAPKBP1_ENST00000514566.1_Frame_Shift_Del_p.S1053fs|MAPKBP1_ENST00000457542.2_Frame_Shift_Del_p.S1053fs|MAPKBP1_ENST00000260357.7_Frame_Shift_Del_p.S892fs|RP11-23P13.4_ENST00000510176.1_RNA	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1059								p.Q1055fs*9(1)		breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		AGGAGGGCAGCCCCCAGACTC	0.572																																					p.S1053fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.3159delC	15						.						40.0	43.0	42.0					15																	42114550		2203	4300	6503	39901842	SO:0001589	frameshift_variant	23005	exon26			AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.3177delC	15.37:g.42114550delC	ENSP00000393099:p.Ser1059fs		39901842	NM_014994	A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Frame_Shift_Del	DEL	ENST00000456763.2	37	CCDS45239.1																																																																																				0.572	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994	
CATSPER2	117155	broad.mit.edu	37	15	43924470	43924473	+	Frame_Shift_Del	DEL	GAGT	GAGT	-			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	GAGT	GAGT	GAGT	-	GAGT	GAGT	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr15:43924470_43924473delGAGT	ENST00000321596.5	-	12	1684_1687	c.1485_1488delACTC	c.(1483-1488)tcactcfs	p.SL495fs	CATSPER2_ENST00000354127.4_Frame_Shift_Del_p.SL493fs|CATSPER2_ENST00000355438.2_3'UTR|STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000396879.1_Frame_Shift_Del_p.SL493fs|CATSPER2_ENST00000381761.1_Frame_Shift_Del_p.SL499fs			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	495					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)	p.L494fs*7(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		AATATCGGAAGAGTGAGTCTCTGG	0.485																																					p.493_494del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1479_1482del	15						.																																			41711765	SO:0001589	frameshift_variant	117155	exon12			AF411817	CCDS10099.1, CCDS32216.1, CCDS73714.1	15q15.3	2011-07-05			ENSG00000166762	ENSG00000166762		"""Voltage-gated ion channels / Cation channels, sperm associated"""	18810	protein-coding gene	gene with protein product		607249				11675491, 16382101	Standard	NM_172095		Approved		uc001zsh.3	Q96P56	OTTHUMG00000059902	ENST00000321596.5:c.1485_1488delACTC	15.37:g.43924474_43924477delGAGT	ENSP00000321463:p.Ser495fs		41711762	NM_054020	Q8NHT9|Q96P54|Q96P55	Frame_Shift_Del	DEL	ENST00000321596.5	37	CCDS10099.1																																																																																				0.485	CATSPER2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133151.2	NM_054020	
IL16	3603	broad.mit.edu	37	15	81592162	81592164	+	In_Frame_Del	DEL	CCT	CCT	-	rs562825970		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	CCT	CCT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr15:81592162_81592164delCCT	ENST00000302987.4	+	13	2495_2497	c.2495_2497delCCT	c.(2494-2499)gcctcc>gcc	p.S838del	IL16_ENST00000560230.1_3'UTR|IL16_ENST00000394660.2_In_Frame_Del_p.S838del|IL16_ENST00000394652.2_In_Frame_Del_p.S137del			Q14005	IL16_HUMAN	interleukin 16	838					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.S792delS(1)|p.S838delS(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CACATCCGGGcctcctcctcctc	0.586																																					p.832_833del												.	.	2	Deletion - In frame(2)	large_intestine(2)	c.2495_2497del	15						.		,,	50,2,4208		3,0,44,0,2,2081					,,	3.2	0.1			40	99,6,8147		7,0,85,0,6,4028	no	codingComplex,codingComplex,codingComplex	IL16	NM_172217.3,NM_004513.5,NM_001172128.1	,,	10,0,129,0,8,6109	A1A1,A1A2,A1R,A2A2,A2R,RR		1.2724,1.2207,1.2548	,,	,,		149,8,12355				79379219	SO:0001651	inframe_deletion	3603	exon14			U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.2495_2497delCCT	15.37:g.81592171_81592173delCCT	ENSP00000302935:p.Ser838del		79379217	NM_001172128	A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	In_Frame_Del	DEL	ENST00000302987.4	37	CCDS42069.1																																																																																				0.586	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217	
LINS	55180	broad.mit.edu	37	15	101114265	101114265	+	Silent	SNP	A	A	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr15:101114265A>C	ENST00000314742.8	-	5	1035	c.813T>G	c.(811-813)acT>acG	p.T271T	LINS_ENST00000561308.1_Silent_p.T271T|LINS_ENST00000560133.1_Silent_p.T152T|LINS_ENST00000559149.1_5'UTR	NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	271								p.T271T(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						TCCTCTGGCAAGTGAAATGTA	0.393																																					p.T271T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T813G	15						.						59.0	60.0	60.0					15																	101114265		2202	4299	6501	98931788	SO:0001819	synonymous_variant	55180	exon5			AK095448	CCDS10385.1	15q26.3	2010-09-08	2010-09-08	2010-09-08	ENSG00000140471	ENSG00000140471			30922	protein-coding gene	gene with protein product		610350	"""lines homolog 1 (Drosophila)"""	LINS1		12119551, 8889548	Standard	NM_001040616		Approved	WINS1	uc002bwg.3	Q8NG48	OTTHUMG00000149865	ENST00000314742.8:c.813T>G	15.37:g.101114265A>C			98931788	NM_001040616	Q96FW2|Q9NVQ3	Silent	SNP	ENST00000314742.8	37	CCDS10385.1																																																																																				0.393	LINS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313592.1	NM_018148	
IFT140	9742	broad.mit.edu	37	16	1614095	1614095	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr16:1614095T>C	ENST00000426508.2	-	17	2333	c.1970A>G	c.(1969-1971)gAg>gGg	p.E657G	IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	657					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)		p.E657G(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CAGCCGGGGCTCACTCTGGTC	0.587																																					p.E657G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1970G	16						.						53.0	62.0	59.0					16																	1614095		2199	4300	6499	1554096	SO:0001583	missense	9742	exon17			AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.1970A>G	16.37:g.1614095T>C	ENSP00000406012:p.Glu657Gly		1554096	NM_014714	A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	T	17.25	3.341146	0.60963	.	.	ENSG00000187535	ENST00000397417;ENST00000426508;ENST00000439987	D	0.83591	-1.74	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.91171	0.7219	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.74348	0.972;0.983	D	0.92495	0.6003	10	0.72032	D	0.01	.	14.9575	0.71127	0.0:0.0:0.0:1.0	.	657;382	Q96RY7;B4DR58	IF140_HUMAN;.	G	657	ENSP00000406012:E657G	ENSP00000380562:E657G	E	-	2	0	IFT140	1554096	1.000000	0.71417	0.876000	0.34364	0.011000	0.07611	7.242000	0.78210	1.949000	0.56562	0.383000	0.25322	GAG		0.587	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714	
MYH11	4629	broad.mit.edu	37	16	15808819	15808819	+	Silent	SNP	C	C	T	rs372173243		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr16:15808819C>T	ENST00000300036.5	-	40	5842	c.5733G>A	c.(5731-5733)acG>acA	p.T1911T	NDE1_ENST00000342673.5_Intron|MYH11_ENST00000452625.2_Silent_p.T1918T|NDE1_ENST00000396354.1_Intron|NDE1_ENST00000396355.1_Intron|MYH11_ENST00000396324.3_Silent_p.T1918T|MYH11_ENST00000576790.2_Silent_p.T1911T	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1911					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)	p.T1911T(2)|p.T1918T(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CGTTGCTCTCCGTGGCCTCAT	0.657			T	CBFB	AML																																p.T1918T			Dom	yes		16	16p13.13-p13.12	4629	"""myosin, heavy polypeptide 11, smooth muscle"""		L	.	.	3	Substitution - coding silent(3)	lung(2)|large_intestine(1)	c.G5754A	16						.	C	,,,,,	1,4393	2.1+/-5.4	0,1,2196	123.0	119.0	120.0		5754,5754,,5733,,5733	-9.5	0.7	16		120	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,intron,coding-synonymous,intron,coding-synonymous	MYH11,NDE1	NM_001040113.1,NM_001040114.1,NM_001143979.1,NM_002474.2,NM_017668.2,NM_022844.2	,,,,,	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	,,,,,	1918/1946,1918/1980,,1911/1973,,1911/1939	15808819	1,12993	2197	4300	6497	15716320	SO:0001819	synonymous_variant	4629	exon41			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.5733G>A	16.37:g.15808819C>T			15716320	NM_001040114	D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Silent	SNP	ENST00000300036.5	37	CCDS10565.1																																																																																				0.657	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113	
ABCC6	368	broad.mit.edu	37	16	16282693	16282693	+	Missense_Mutation	SNP	C	C	T	rs190761354		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr16:16282693C>T	ENST00000205557.7	-	13	1803	c.1774G>A	c.(1774-1776)Gtc>Atc	p.V592I	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	592	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.V592I(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	CTCACCTGGACGAGGGAGTGG	0.577													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20960	0.0		0.0	False		,,,				2504	0.0				p.V592I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1774A	16						.						58.0	52.0	54.0					16																	16282693		2195	4300	6495	16190194	SO:0001583	missense	368	exon13			AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"""ATP binding cassette transporters / subfamily C"""	57	protein-coding gene	gene with protein product		603234	"""pseudoxanthoma elasticum"""	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.1774G>A	16.37:g.16282693C>T	ENSP00000205557:p.Val592Ile		16190194	NM_001171	A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Missense_Mutation	SNP	ENST00000205557.7	37	CCDS10568.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	8.068	0.769513	0.15983	.	.	ENSG00000091262	ENST00000205557;ENST00000456970;ENST00000546056	D;D	0.91521	-2.86;-2.86	5.47	-0.387	0.12463	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);	0.382752	0.18634	U	0.135519	T	0.78227	0.4250	L	0.27053	0.805	0.31398	N	0.676982	B;P	0.35575	0.276;0.51	B;B	0.19391	0.024;0.025	T	0.74340	-0.3697	10	0.56958	D	0.05	.	6.7752	0.23617	0.1266:0.5789:0.0:0.2945	.	604;592	F5GWQ0;O95255	.;MRP6_HUMAN	I	592;592;604	ENSP00000205557:V592I;ENSP00000405002:V592I	ENSP00000205557:V592I	V	-	1	0	ABCC6	16190194	0.000000	0.05858	0.165000	0.22776	0.044000	0.14063	-0.407000	0.07178	0.270000	0.21984	0.655000	0.94253	GTC		0.577	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2		
XYLT1	64131	broad.mit.edu	37	16	17235099	17235099	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr16:17235099G>A	ENST00000261381.6	-	7	1582	c.1498C>T	c.(1498-1500)Cgg>Tgg	p.R500W	CTD-2576D5.4_ENST00000567344.1_RNA	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	500					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ACAAACCTCCGGTTCAGCAGG	0.562																																					p.R500W												.	.	0			c.C1498T	16						.						166.0	166.0	166.0					16																	17235099		2197	4300	6497	17142600	SO:0001583	missense	64131	exon7			AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.1498C>T	16.37:g.17235099G>A	ENSP00000261381:p.Arg500Trp		17142600	NM_022166	Q9H1B6	Missense_Mutation	SNP	ENST00000261381.6	37	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.050477	0.75960	.	.	ENSG00000103489	ENST00000261381	T	0.36520	1.25	5.92	2.69	0.31865	.	0.000000	0.85682	D	0.000000	T	0.67636	0.2914	M	0.93462	3.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77178	-0.2683	10	0.87932	D	0	-45.2385	13.6684	0.62409	0.0:0.0:0.4088:0.5911	.	500	Q86Y38	XYLT1_HUMAN	W	500	ENSP00000261381:R500W	ENSP00000261381:R500W	R	-	1	2	XYLT1	17142600	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	2.857000	0.48349	0.810000	0.34279	0.555000	0.69702	CGG		0.562	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166	
C16orf62	57020	broad.mit.edu	37	16	19651382	19651382	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr16:19651382C>T	ENST00000251143.5	+	21	1756	c.1744C>T	c.(1744-1746)Cgg>Tgg	p.R582W	C16orf62_ENST00000542263.1_Missense_Mutation_p.R604W|C16orf62_ENST00000543152.1_Missense_Mutation_p.R331W|C16orf62_ENST00000438132.3_Missense_Mutation_p.R671W|C16orf62_ENST00000417362.2_Missense_Mutation_p.R515W|C16orf62_ENST00000448695.1_Missense_Mutation_p.R432W			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	582						integral component of membrane (GO:0016021)		p.R582W(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						AGAGAGTGTGCGGGTGGAGGT	0.438																																					p.R671W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2011T	16						.						114.0	118.0	116.0					16																	19651382		2197	4300	6497	19558883	SO:0001583	missense	57020	exon21				CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.1744C>T	16.37:g.19651382C>T	ENSP00000251143:p.Arg582Trp		19558883	NM_020314	A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Missense_Mutation	SNP	ENST00000251143.5	37		.	.	.	.	.	.	.	.	.	.	C	26.5	4.740300	0.89573	.	.	ENSG00000103544	ENST00000438132;ENST00000542263;ENST00000251143;ENST00000417362;ENST00000448695	T;T;T;T;T	0.75938	-0.98;0.95;-0.98;0.95;-0.98	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.84840	0.5561	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.989;0.997	D	0.83868	0.0272	9	.	.	.	-25.7987	14.4841	0.67603	0.147:0.853:0.0:0.0	.	604;582	F5H7K1;Q7Z3J2	.;CP062_HUMAN	W	671;604;582;515;432	ENSP00000400815:R671W;ENSP00000442468:R604W;ENSP00000251143:R582W;ENSP00000395973:R515W;ENSP00000398009:R432W	.	R	+	1	2	C16orf62	19558883	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.226000	0.51254	2.941000	0.99782	0.655000	0.94253	CGG		0.438	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314	
ACSM2A	123876	broad.mit.edu	37	16	20492149	20492149	+	Missense_Mutation	SNP	G	G	A	rs556547446		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr16:20492149G>A	ENST00000573854.1	+	12	1529	c.1415G>A	c.(1414-1416)cGg>cAg	p.R472Q	ACSM2A_ENST00000396104.2_Missense_Mutation_p.R472Q|ACSM2A_ENST00000536134.1_Missense_Mutation_p.R244Q|ACSM2A_ENST00000417235.2_Missense_Mutation_p.R393Q|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000219054.6_Missense_Mutation_p.R472Q|ACSM2A_ENST00000575690.1_Missense_Mutation_p.R472Q	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	472					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)	p.R472Q(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TGCAGGTACCGGATTGGACCC	0.562													g|||	1	0.000199681	0.0	0.0	5008	,	,		19126	0.0		0.0	False		,,,				2504	0.001				p.R472Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1415A	16						.						88.0	81.0	83.0					16																	20492149		2203	4299	6502	20399650	SO:0001583	missense	123876	exon13			AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.1415G>A	16.37:g.20492149G>A	ENSP00000459451:p.Arg472Gln		20399650	NM_001010845	B3KTT9|O75202	Missense_Mutation	SNP	ENST00000573854.1	37	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.699578	0.48307	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000536134;ENST00000396104	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	3.16	1.06	0.20224	AMP-dependent synthetase/ligase (1);	0.407398	0.18228	N	0.147659	T	0.56485	0.1988	L	0.58810	1.83	0.80722	D	1	D;D	0.71674	0.998;0.971	P;B	0.54706	0.759;0.403	T	0.57323	-0.7831	10	0.66056	D	0.02	-14.256	8.2216	0.31545	0.2117:0.0:0.7883:0.0	.	393;472	B7Z8R0;Q08AH3	.;ACS2A_HUMAN	Q	393;472;244;472	ENSP00000392169:R393Q;ENSP00000219054:R472Q;ENSP00000445082:R244Q;ENSP00000379411:R472Q	ENSP00000219054:R472Q	R	+	2	0	ACSM2A	20399650	0.998000	0.40836	0.999000	0.59377	0.739000	0.42172	3.178000	0.50879	0.454000	0.26884	0.289000	0.19496	CGG		0.562	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845	
ERI2	112479	broad.mit.edu	37	16	20811682	20811682	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr16:20811682T>C	ENST00000357967.4	-	6	545	c.503A>G	c.(502-504)aAg>aGg	p.K168R	ERI2_ENST00000300005.3_Missense_Mutation_p.K168R|ERI2_ENST00000569729.1_Missense_Mutation_p.K168R|ERI2_ENST00000389345.5_Intron|ERI2_ENST00000563117.1_Missense_Mutation_p.K75R|ERI2_ENST00000564349.1_Missense_Mutation_p.K75R	NM_001142725.1	NP_001136197.1	A8K979	ERI2_HUMAN	ERI1 exoribonuclease family member 2	168	Exonuclease.						exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.K168R(2)		endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(2)	11						TAACAGCTGCTTTCTTTTACA	0.363																																					p.K168R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A503G	16						.						75.0	74.0	74.0					16																	20811682		2201	4300	6501	20719183	SO:0001583	missense	112479	exon6			BC010503	CCDS10590.1, CCDS45436.1	16p12.3	2014-02-18	2009-10-07	2008-12-16	ENSG00000196678	ENSG00000196678		"""Enhanced RNAi three prime mRNA exonucleases"""	30541	protein-coding gene	gene with protein product	"""enhanced RNAi three prime mRNA exonuclease homolog 2 (C.elegans)"", ""exoribonuclease 2"", ""zinc finger, GRF-type containing 5"""		"""exonuclease domain containing 1"""	EXOD1		10819331	Standard	NM_080663		Approved	KIAA1504, MGC16943, ZGRF5	uc010vbb.1	A8K979	OTTHUMG00000131557	ENST00000357967.4:c.503A>G	16.37:g.20811682T>C	ENSP00000350651:p.Lys168Arg		20719183	NM_080663	Q6ZSJ2|Q96FR9|Q9P224|Q9Y6V3	Missense_Mutation	SNP	ENST00000357967.4	37	CCDS45436.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.599469	0.87055	.	.	ENSG00000196678	ENST00000300005;ENST00000357967	T;T	0.42900	0.96;0.96	5.8	5.8	0.92144	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.64571	0.2610	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.65821	-0.6075	10	0.51188	T	0.08	-23.0264	16.1459	0.81569	0.0:0.0:0.0:1.0	.	168;168;168	A8K979;A8K979-3;A8K979-4	ERI2_HUMAN;.;.	R	168	ENSP00000300005:K168R;ENSP00000350651:K168R	ENSP00000300005:K168R	K	-	2	0	ERI2	20719183	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.128000	0.77217	2.221000	0.72209	0.528000	0.53228	AAG		0.363	ERI2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_080663	
OTOA	146183	broad.mit.edu	37	16	21726417	21726417	+	Missense_Mutation	SNP	G	G	A	rs572283930		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr16:21726417G>A	ENST00000286149.4	+	13	1475	c.1474G>A	c.(1474-1476)Gtc>Atc	p.V492I	OTOA_ENST00000388958.3_Missense_Mutation_p.V478I|OTOA_ENST00000388957.3_Missense_Mutation_p.V154I|OTOA_ENST00000388956.4_Missense_Mutation_p.V399I			Q7RTW8	OTOAN_HUMAN	otoancorin	492					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)		p.V478I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GAGAAGTGCCGTCTCCCAGTA	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		22005	0.0		0.0	False		,,,				2504	0.001				p.V478I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1432A	16						.						232.0	210.0	217.0					16																	21726417		2199	4300	6499	21633918	SO:0001583	missense	146183	exon13			AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"""cancer/testis antigen 108"""	607038	"""deafness, autosomal recessive 22"""	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.1474G>A	16.37:g.21726417G>A	ENSP00000286149:p.Val492Ile		21633918	NM_144672	A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Missense_Mutation	SNP	ENST00000286149.4	37		.	.	.	.	.	.	.	.	.	.	G	0.298	-0.975420	0.02215	.	.	ENSG00000155719	ENST00000388958;ENST00000286149;ENST00000388956;ENST00000388957	T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21	5.66	-11.0	0.00169	.	1.733600	0.03195	N	0.173902	T	0.41373	0.1156	N	0.00538	-1.39	0.09310	N	1	B;B;B;B	0.14012	0.007;0.007;0.009;0.004	B;B;B;B	0.06405	0.002;0.002;0.002;0.002	T	0.44651	-0.9314	10	0.21540	T	0.41	0.534	11.4065	0.49900	0.5645:0.3473:0.0881:0.0	.	492;399;154;478	Q7RTW8;B3KWU3;Q7RTW8-2;E9PF51	OTOAN_HUMAN;.;.;.	I	478;492;399;154	ENSP00000373610:V478I;ENSP00000286149:V492I;ENSP00000373608:V399I;ENSP00000373609:V154I	ENSP00000286149:V492I	V	+	1	0	OTOA	21633918	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.881000	0.01626	-1.967000	0.01008	-1.822000	0.00598	GTC		0.577	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1		
SCNN1G	6340	broad.mit.edu	37	16	23224050	23224050	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr16:23224050G>T	ENST00000300061.2	+	9	1489	c.1346G>T	c.(1345-1347)tGc>tTc	p.C449F	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	449					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.C449F(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)	GAGCTGGGCTGCCAGTCTGTG	0.587																																					p.C449F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1346T	16						.						106.0	98.0	101.0					16																	23224050		2197	4300	6497	23131551	SO:0001583	missense	6340	exon9			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.1346G>T	16.37:g.23224050G>T	ENSP00000300061:p.Cys449Phe		23131551	NM_001039	P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Missense_Mutation	SNP	ENST00000300061.2	37	CCDS10608.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.101921	0.76983	.	.	ENSG00000166828	ENST00000300061	T	0.62498	0.02	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.81178	0.4768	M	0.82716	2.605	0.58432	D	0.999993	D	0.89917	1.0	D	0.91635	0.999	D	0.84121	0.0406	10	0.87932	D	0	-51.8669	17.4505	0.87591	0.0:0.0:1.0:0.0	.	449	P51170	SCNNG_HUMAN	F	449	ENSP00000300061:C449F	ENSP00000300061:C449F	C	+	2	0	SCNN1G	23131551	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.147000	0.77382	2.541000	0.85698	0.561000	0.74099	TGC		0.587	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254496.1	NM_001039	
COG7	91949	broad.mit.edu	37	16	23409402	23409402	+	Missense_Mutation	SNP	C	C	T	rs145412851	byFrequency	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr16:23409402C>T	ENST00000307149.5	-	14	2037	c.1852G>A	c.(1852-1854)Gcc>Acc	p.A618T		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	618					intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to Golgi apparatus (GO:0034067)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)		p.A618T(1)		breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		AGACTAAAGGCGGGCAGTTCA	0.522													C|||	11	0.00219649	0.0	0.0	5008	,	,		19077	0.0		0.001	False		,,,				2504	0.0102				p.A618T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1852A	16						.	C	THR/ALA	0,4394		0,0,2197	173.0	136.0	149.0		1852	3.5	0.7	16	dbSNP_134	149	5,8595	4.3+/-15.6	0,5,4295	yes	missense	COG7	NM_153603.3	58	0,5,6492	TT,TC,CC		0.0581,0.0,0.0385	benign	618/771	23409402	5,12989	2197	4300	6497	23316903	SO:0001583	missense	91949	exon14			AF070568	CCDS10610.1	16p12.2	2008-02-05			ENSG00000168434	ENSG00000168434		"""Components of oligomeric golgi complex"""	18622	protein-coding gene	gene with protein product		606978				11980916	Standard	NM_153603		Approved		uc002dlo.3	P83436	OTTHUMG00000094807	ENST00000307149.5:c.1852G>A	16.37:g.23409402C>T	ENSP00000305442:p.Ala618Thr		23316903	NM_153603	Q6UWU7	Missense_Mutation	SNP	ENST00000307149.5	37	CCDS10610.1	.	.	.	.	.	.	.	.	.	.	C	3.909	-0.020536	0.07634	0.0	5.81E-4	ENSG00000168434	ENST00000307149	T	0.43688	0.94	5.6	3.48	0.39840	.	0.138441	0.64402	N	0.000003	T	0.13628	0.0330	N	0.02225	-0.63	0.36864	D	0.888556	B	0.02656	0.0	B	0.04013	0.001	T	0.10132	-1.0643	10	0.08381	T	0.77	-10.8301	4.3698	0.11242	0.0:0.385:0.0:0.615	.	618	P83436	COG7_HUMAN	T	618	ENSP00000305442:A618T	ENSP00000305442:A618T	A	-	1	0	COG7	23316903	1.000000	0.71417	0.686000	0.30086	0.478000	0.33099	3.862000	0.56009	0.570000	0.29347	0.655000	0.94253	GCC		0.522	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211625.1		
ERN2	10595	broad.mit.edu	37	16	23722279	23722279	+	Missense_Mutation	SNP	C	C	T	rs566268236	byFrequency	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr16:23722279C>T	ENST00000457008.2	-	2	192	c.154G>A	c.(154-156)Gca>Aca	p.A52T	ERN2_ENST00000256797.4_Missense_Mutation_p.A100T|CTD-2385L22.1_ENST00000563611.1_RNA					endoplasmic reticulum to nucleus signaling 2									p.A100T(1)		large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		TTGCTTAGTGCGTGGAGACTT	0.567													C|||	4	0.000798722	0.0	0.0	5008	,	,		21550	0.0		0.0	False		,,,				2504	0.0041				p.A100T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G298A	16						.						141.0	125.0	130.0					16																	23722279		2197	4300	6497	23629780	SO:0001583	missense	10595	exon2			AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"""ER to nucleus signalling 2"""			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.154G>A	16.37:g.23722279C>T	ENSP00000413812:p.Ala52Thr		23629780	NM_033266		Missense_Mutation	SNP	ENST00000457008.2	37		.	.	.	.	.	.	.	.	.	.	C	22.1	4.242429	0.79912	.	.	ENSG00000134398	ENST00000256797;ENST00000457008	T;T	0.61274	0.12;0.12	5.61	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.78400	0.4277	M	0.87971	2.92	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.85130	0.962;0.997	T	0.82577	-0.0388	10	0.87932	D	0	.	13.6851	0.62511	0.1557:0.8443:0.0:0.0	.	52;52	E7ETG2;A5YM65	.;.	T	100;52	ENSP00000256797:A100T;ENSP00000413812:A52T	ENSP00000256797:A100T	A	-	1	0	ERN2	23629780	1.000000	0.71417	0.306000	0.25113	0.619000	0.37552	6.430000	0.73391	1.368000	0.46115	0.563000	0.77884	GCA		0.567	ERN2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000434886.1		
ARHGDIG	398	broad.mit.edu	37	16	332743	332743	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr16:332743A>G	ENST00000219409.3	+	6	682	c.607A>G	c.(607-609)Acc>Gcc	p.T203A	PDIA2_ENST00000219406.6_5'Flank|PDIA2_ENST00000404312.1_5'Flank	NM_001176.3	NP_001167.2	Q99819	GDIR3_HUMAN	Rho GDP dissociation inhibitor (GDI) gamma	203					negative regulation of cell adhesion (GO:0007162)|regulation of protein localization (GO:0032880)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|Rho GDP-dissociation inhibitor activity (GO:0005094)	p.T203A(1)		breast(1)|central_nervous_system(1)|large_intestine(1)	3		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				GTCCCTCTTCACCGACGATGA	0.647											OREG0003697	type=REGULATORY REGION|Gene=PDIA2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.T203A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A607G	16						.						37.0	35.0	36.0					16																	332743		2197	4297	6494	272744	SO:0001583	missense	398	exon6			U82532	CCDS10404.1	16p13.3	2008-07-29			ENSG00000242173	ENSG00000242173			680	protein-coding gene	gene with protein product	"""RhoGDI gamma"""	602844				9113980, 11967128	Standard	NM_001176		Approved	RHOGDI-3	uc002cgm.1	Q99819	OTTHUMG00000064892	ENST00000219409.3:c.607A>G	16.37:g.332743A>G	ENSP00000219409:p.Thr203Ala	587	272744	NM_001176	Q4TT69|Q96S29	Missense_Mutation	SNP	ENST00000219409.3	37	CCDS10404.1	.	.	.	.	.	.	.	.	.	.	A	15.37	2.814003	0.50527	.	.	ENSG00000242173	ENST00000219409;ENST00000414650	.	.	.	4.11	4.11	0.48088	Immunoglobulin E-set (1);	0.106400	0.38663	U	0.001619	T	0.75496	0.3857	M	0.79475	2.455	0.51012	D	0.999906	D	0.61080	0.989	D	0.64595	0.927	T	0.77159	-0.2690	8	.	.	.	-3.2635	11.0629	0.47957	1.0:0.0:0.0:0.0	.	203	Q99819	GDIR3_HUMAN	A	203;95	.	.	T	+	1	0	ARHGDIG	272744	1.000000	0.71417	0.541000	0.28102	0.123000	0.20343	6.644000	0.74338	1.506000	0.48736	0.460000	0.39030	ACC		0.647	ARHGDIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139321.1		
TNRC6A	27327	broad.mit.edu	37	16	24762101	24762101	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr16:24762101C>T	ENST00000395799.3	+	3	237	c.108C>T	c.(106-108)gaC>gaT	p.D36D	TNRC6A_ENST00000315183.7_Silent_p.D36D|TNRC6A_ENST00000562829.1_Intron	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	36	Interaction with argonaute family proteins.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.D36D(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		agaaaaaagacgacaagaaaa	0.299																																					p.D36D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C108T	16						.						71.0	77.0	75.0					16																	24762101		1817	4069	5886	24669602	SO:0001819	synonymous_variant	27327	exon3			U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.108C>T	16.37:g.24762101C>T			24669602	NM_014494	C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Silent	SNP	ENST00000395799.3	37	CCDS10624.2																																																																																				0.299	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847	
GTF3C1	2975	broad.mit.edu	37	16	27475831	27475831	+	Silent	SNP	G	G	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr16:27475831G>T	ENST00000356183.4	-	34	5697	c.5682C>A	c.(5680-5682)gcC>gcA	p.A1894A	GTF3C1_ENST00000561623.1_Silent_p.A1894A	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1894					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.A1894A(1)		breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CAAGGCTGGGGGCCAAATTTG	0.667																																					p.A1894A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5682A	16						.						53.0	65.0	61.0					16																	27475831		2197	4299	6496	27383332	SO:0001819	synonymous_variant	2975	exon34			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.5682C>A	16.37:g.27475831G>T			27383332	NM_001520	B2RP21|Q12838|Q6DKN9|Q9Y4W9	Silent	SNP	ENST00000356183.4	37	CCDS32414.1																																																																																				0.667	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520	
XPO6	23214	broad.mit.edu	37	16	28188636	28188636	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr16:28188636A>C	ENST00000304658.5	-	3	612	c.112T>G	c.(112-114)Ttt>Gtt	p.F38V	SNORA25_ENST00000363782.1_RNA|XPO6_ENST00000565698.1_Missense_Mutation_p.F24V	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	38	Importin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00115}.				protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)	p.F38V(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						TGCTGGGCAAAGTTATTAAGA	0.353																																					p.F38V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T112G	16						.						65.0	60.0	61.0					16																	28188636		1800	4069	5869	28096137	SO:0001583	missense	23214	exon3			AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"""Exportins"""	19733	protein-coding gene	gene with protein product		608411	"""RAN binding protein 20"""	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.112T>G	16.37:g.28188636A>C	ENSP00000302790:p.Phe38Val		28096137	NM_015171	A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Missense_Mutation	SNP	ENST00000304658.5	37	CCDS42135.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.749268	0.89753	.	.	ENSG00000169180	ENST00000304658	T	0.70399	-0.48	5.95	5.95	0.96441	Armadillo-like helical (1);Armadillo-type fold (1);Importin-beta, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.83876	0.5349	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.85360	0.1107	10	0.59425	D	0.04	-13.7286	14.359	0.66757	1.0:0.0:0.0:0.0	.	38;38	B7ZM10;Q96QU8	.;XPO6_HUMAN	V	38	ENSP00000302790:F38V	ENSP00000302790:F38V	F	-	1	0	XPO6	28096137	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.095000	0.94175	2.272000	0.75746	0.460000	0.39030	TTT		0.353	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433732.1	XM_055195	
CD2BP2	10421	broad.mit.edu	37	16	30364325	30364325	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	T	T	T	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr16:30364325T>G	ENST00000305596.3	-	7	1182	c.1007A>C	c.(1006-1008)gAc>gCc	p.D336A	CD2BP2_ENST00000569466.1_Missense_Mutation_p.D336A|RP11-347C12.10_ENST00000563252.1_lincRNA	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	336	GYF. {ECO:0000255|PROSITE- ProRule:PRU00101}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of phosphatase activity (GO:0010923)|RNA splicing (GO:0008380)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	ribonucleoprotein complex binding (GO:0043021)			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						GAGGTCAAAGTCAATGCGTTT	0.572																																					p.D336A												.	.	0			c.A1007C	16						.						38.0	38.0	38.0					16																	30364325		2197	4299	6496	30271826	SO:0001583	missense	10421	exon7			AF104222	CCDS10675.1	16p11.2	2012-04-17	2006-03-28		ENSG00000169217	ENSG00000169217		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 59"""	604470	"""CD2 antigen (cytoplasmic tail)-binding protein 2"""			9843987	Standard	NM_006110		Approved	LIN1, Snu40, PPP1R59	uc002dxs.3	O95400	OTTHUMG00000132397	ENST00000305596.3:c.1007A>C	16.37:g.30364325T>G	ENSP00000304903:p.Asp336Ala		30271826	NM_006110	B2RDX2|Q9ULP2	Missense_Mutation	SNP	ENST00000305596.3	37	CCDS10675.1	.	.	.	.	.	.	.	.	.	.	t	24.2	4.499858	0.85176	.	.	ENSG00000169217	ENST00000305596	T	0.55052	0.54	4.94	4.94	0.65067	GYF (4);	0.000000	0.85682	D	0.000000	T	0.73024	0.3534	M	0.84683	2.71	0.80722	D	1	D	0.65815	0.995	D	0.64595	0.927	T	0.78437	-0.2204	10	0.72032	D	0.01	-0.4716	13.8906	0.63736	0.0:0.0:0.0:1.0	.	336	O95400	CD2B2_HUMAN	A	336	ENSP00000304903:D336A	ENSP00000304903:D336A	D	-	2	0	CD2BP2	30271826	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.002000	0.76304	1.976000	0.57569	0.482000	0.46254	GAC		0.572	CD2BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255528.1	NM_006110	
DCTPP1	79077	broad.mit.edu	37	16	30441257	30441257	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr16:30441257C>A	ENST00000319285.4	-	1	139	c.45G>T	c.(43-45)gaG>gaT	p.E15D	DCTPP1_ENST00000568434.1_5'Flank|DCTPP1_ENST00000568973.1_5'Flank|DCTPP1_ENST00000565758.1_De_novo_Start_InFrame|DCTPP1_ENST00000567983.1_Intron	NM_024096.1	NP_077001.1	Q9H773	DCTP1_HUMAN	dCTP pyrophosphatase 1	15					nucleoside triphosphate catabolic process (GO:0009143)|protein homotetramerization (GO:0051289)	cytosol (GO:0005829)	dCTP diphosphatase activity (GO:0047840)|magnesium ion binding (GO:0000287)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|pyrimidine deoxyribonucleotide binding (GO:0032556)	p.E15D(1)		kidney(1)|large_intestine(3)|upper_aerodigestive_tract(1)	5						CAGCAGTGTCCTCTCCCCCCG	0.682																																					p.E15D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G45T	16						.						36.0	36.0	36.0					16																	30441257		2197	4299	6496	30348758	SO:0001583	missense	79077	exon1			BC001344	CCDS10680.1	16p11.2	2009-02-11			ENSG00000179958	ENSG00000179958	3.6.1.12		28777	protein-coding gene	gene with protein product	"""XTP3-transactivated protein A"""	615840				15740738	Standard	NM_024096		Approved	MGC5627, RS21C6, CDA03, XTP3TPA	uc002dyf.3	Q9H773	OTTHUMG00000132416	ENST00000319285.4:c.45G>T	16.37:g.30441257C>A	ENSP00000322524:p.Glu15Asp		30348758	NM_024096		Missense_Mutation	SNP	ENST00000319285.4	37	CCDS10680.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.205239	0.39003	.	.	ENSG00000179958	ENST00000319285	.	.	.	5.08	-0.463	0.12164	.	0.640249	0.13951	N	0.351485	T	0.31765	0.0807	M	0.65975	2.015	0.20489	N	0.999899	B	0.06786	0.001	B	0.04013	0.001	T	0.27872	-1.0061	9	0.31617	T	0.26	14.0102	0.9154	0.01303	0.1574:0.392:0.17:0.2806	.	15	Q9H773	DCTP1_HUMAN	D	15	.	ENSP00000322524:E15D	E	-	3	2	DCTPP1	30348758	0.003000	0.15002	0.000000	0.03702	0.014000	0.08584	0.187000	0.16998	-0.105000	0.12132	0.585000	0.79938	GAG		0.682	DCTPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255553.2	NM_024096	
ZNF629	23361	broad.mit.edu	37	16	30793308	30793308	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr16:30793308C>T	ENST00000262525.4	-	3	2548	c.2341G>A	c.(2341-2343)Gtg>Atg	p.V781M	RP11-2C24.6_ENST00000575562.1_RNA	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	781					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V781M(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			GTGAGGGCCACGCGGTCGAGG	0.652																																					p.V781M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2341A	16						.						81.0	96.0	91.0					16																	30793308		1914	4115	6029	30700809	SO:0001583	missense	23361	exon3			AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"""Zinc fingers, C2H2-type"""	29008	protein-coding gene	gene with protein product			"""zinc finger protein 65"""	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.2341G>A	16.37:g.30793308C>T	ENSP00000262525:p.Val781Met		30700809	NM_001080417	Q15938	Missense_Mutation	SNP	ENST00000262525.4	37	CCDS45463.1	.	.	.	.	.	.	.	.	.	.	C	7.071	0.568355	0.13560	.	.	ENSG00000102870	ENST00000262525	T	0.15487	2.42	5.65	0.269	0.15631	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.485574	0.15329	N	0.268139	T	0.09069	0.0224	N	0.20685	0.6	0.09310	N	1	B	0.13594	0.008	B	0.06405	0.002	T	0.24693	-1.0153	10	0.72032	D	0.01	-2.5047	3.9396	0.09321	0.071:0.2482:0.3137:0.3671	.	781	Q9UEG4	ZN629_HUMAN	M	781	ENSP00000262525:V781M	ENSP00000262525:V781M	V	-	1	0	ZNF629	30700809	0.210000	0.23517	0.856000	0.33681	0.238000	0.25445	0.938000	0.28965	-0.132000	0.11557	-1.633000	0.00780	GTG		0.652	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1	NM_015309	
ZNF75A	7627	broad.mit.edu	37	16	3367335	3367335	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr16:3367335G>A	ENST00000574298.1	+	6	830	c.357G>A	c.(355-357)atG>atA	p.M119I	ZNF75A_ENST00000498240.2_3'UTR	NM_153028.2	NP_694573.1	Q96N20	ZN75A_HUMAN	zinc finger protein 75a	119					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.M119I(1)		breast(1)|large_intestine(3)|lung(7)|prostate(1)	12						ATTTTGATATGCACAGAGTGG	0.388																																					p.M119I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G357A	16						.						66.0	64.0	65.0					16																	3367335		2197	4300	6497	3307336	SO:0001583	missense	7627	exon6			X91826	CCDS10501.1	16p13.11	2013-01-08			ENSG00000162086	ENSG00000162086		"""Zinc fingers, C2H2-type"", ""-"""	13146	protein-coding gene	gene with protein product		601473				8661144	Standard	NM_153028		Approved	FLJ31529	uc002cut.4	Q96N20	OTTHUMG00000129356	ENST00000574298.1:c.357G>A	16.37:g.3367335G>A	ENSP00000459566:p.Met119Ile		3307336	NM_153028	Q0VDI8|Q92669	Missense_Mutation	SNP	ENST00000574298.1	37	CCDS10501.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.070764	0.00379	.	.	ENSG00000162086	ENST00000293995	.	.	.	4.57	-9.14	0.00701	.	2.293110	0.01981	N	0.044822	T	0.08088	0.0202	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32561	-0.9902	9	0.44086	T	0.13	.	1.3578	0.02186	0.3455:0.0829:0.2317:0.3399	.	119	Q96N20	ZN75A_HUMAN	I	119	.	ENSP00000293995:M119I	M	+	3	0	ZNF75A	3307336	0.000000	0.05858	0.000000	0.03702	0.380000	0.30137	-2.388000	0.01059	-2.898000	0.00313	-1.469000	0.01011	ATG		0.388	ZNF75A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251506.2	NM_153028	
SLX4	84464	broad.mit.edu	37	16	3641122	3641122	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr16:3641122G>A	ENST00000294008.3	-	12	3157	c.2517C>T	c.(2515-2517)caC>caT	p.H839H		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	839	Glu-rich.|Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)	p.H839H(1)		breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GATCTTCTTCGTGGTCCTTGG	0.463								Direct reversal of damage																													p.H839H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2517T	16						.						167.0	171.0	170.0					16																	3641122		2197	4300	6497	3581123	SO:0001819	synonymous_variant	84464	exon12			AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.2517C>T	16.37:g.3641122G>A			3581123	NM_032444	Q69YT8|Q8TF15|Q96JP1	Silent	SNP	ENST00000294008.3	37	CCDS10506.2																																																																																				0.463	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444	
CREBBP	1387	broad.mit.edu	37	16	3823907	3823907	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr16:3823907G>A	ENST00000262367.5	-	13	3117	c.2308C>T	c.(2308-2310)Cct>Tct	p.P770S	CREBBP_ENST00000382070.3_Missense_Mutation_p.P732S	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	770					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.P770S(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GGAGGCTGAGGCATTCGGGAA	0.552			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																														p.P770S			Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2308T	16						.						101.0	97.0	98.0					16																	3823907		2197	4300	6497	3763908	SO:0001583	missense	1387	exon13			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.2308C>T	16.37:g.3823907G>A	ENSP00000262367:p.Pro770Ser		3763908	NM_004380	D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437042	0.62955	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.82893	-1.66;-1.59	5.32	5.32	0.75619	.	0.077692	0.56097	D	0.000038	T	0.68851	0.3046	N	0.17082	0.46	0.51233	D	0.999915	B;B	0.31968	0.226;0.349	B;B	0.32149	0.132;0.141	T	0.65623	-0.6123	10	0.12430	T	0.62	-11.4285	12.6893	0.56966	0.076:0.0:0.924:0.0	.	800;770	Q4LE28;Q92793	.;CBP_HUMAN	S	770;800;732	ENSP00000262367:P770S;ENSP00000371502:P732S	ENSP00000262367:P770S	P	-	1	0	CREBBP	3763908	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.150000	0.64869	2.663000	0.90544	0.557000	0.71058	CCT		0.552	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380	
ZNF646	9726	broad.mit.edu	37	16	31089074	31089074	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr16:31089074C>T	ENST00000394979.2	+	1	1852	c.1429C>T	c.(1429-1431)Cgg>Tgg	p.R477W	ZNF646_ENST00000300850.5_Missense_Mutation_p.R477W			O15015	ZN646_HUMAN	zinc finger protein 646	477					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.R477W(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						TTACCGCCACCGGGGGAGCCT	0.617																																					p.R477W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1429T	16						.						73.0	73.0	73.0					16																	31089074		2197	4300	6497	30996575	SO:0001583	missense	9726	exon2			AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.1429C>T	16.37:g.31089074C>T	ENSP00000378429:p.Arg477Trp		30996575	NM_014699	Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37		.	.	.	.	.	.	.	.	.	.	C	16.35	3.097827	0.56075	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.29917	1.55;1.55	5.63	4.65	0.58169	.	.	.	.	.	T	0.49338	0.1551	L	0.56769	1.78	0.32311	N	0.563732	D	0.89917	1.0	D	0.67231	0.95	T	0.61496	-0.7051	9	0.72032	D	0.01	-18.8794	12.3614	0.55205	0.3165:0.6835:0.0:0.0	.	477	O15015-2	.	W	477	ENSP00000300850:R477W;ENSP00000378429:R477W	ENSP00000300850:R477W	R	+	1	2	ZNF646	30996575	0.925000	0.31364	0.998000	0.56505	0.956000	0.61745	1.087000	0.30865	1.316000	0.45131	0.655000	0.94253	CGG		0.617	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699	
LONP2	83752	broad.mit.edu	37	16	48382139	48382139	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr16:48382139C>T	ENST00000285737.4	+	14	2368	c.2275C>T	c.(2275-2277)Cgg>Tgg	p.R759W	LONP2_ENST00000564259.1_3'UTR|LONP2_ENST00000535754.1_Missense_Mutation_p.R715W	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal									p.R759W(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TTTTAGTGGGCGGCTGGTACG	0.428																																					p.R759W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2275T	16						.						143.0	142.0	142.0					16																	48382139		2200	4300	6500	46939640	SO:0001583	missense	83752	exon14			AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"""ATPases / AAA-type"""	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.2275C>T	16.37:g.48382139C>T	ENSP00000285737:p.Arg759Trp		46939640	NM_031490		Missense_Mutation	SNP	ENST00000285737.4	37	CCDS10734.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.403669	0.83230	.	.	ENSG00000102910	ENST00000285737;ENST00000544734;ENST00000535754	T;T	0.31769	1.48;1.48	6.17	4.08	0.47627	Ribosomal protein S5 domain 2-type fold (1);Peptidase S16, Lon C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.61602	0.2360	M	0.90870	3.155	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.68765	0.96;0.96	T	0.72161	-0.4374	10	0.66056	D	0.02	-23.1121	14.0397	0.64667	0.3883:0.6117:0.0:0.0	.	715;759	B7ZKL7;Q86WA8	.;LONP2_HUMAN	W	759;488;715	ENSP00000285737:R759W;ENSP00000445426:R715W	ENSP00000285737:R759W	R	+	1	2	LONP2	46939640	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.403000	0.44530	1.575000	0.49775	0.655000	0.94253	CGG		0.428	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256839.2	NM_031490	
SALL1	6299	broad.mit.edu	37	16	51171197	51171197	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr16:51171197G>A	ENST00000251020.4	-	3	3834	c.3801C>T	c.(3799-3801)ctC>ctT	p.L1267L	SALL1_ENST00000566102.1_3'UTR|SALL1_ENST00000440970.1_Silent_p.L1170L|SALL1_ENST00000541611.1_Silent_p.L90L	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1267					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L1267L(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TCCCACTGCCGAGGCTTCCAG	0.592																																					p.L1267L	GBM(103;1352 1446 1855 4775 8890)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3801T	16						.						78.0	73.0	75.0					16																	51171197		2198	4300	6498	49728698	SO:0001819	synonymous_variant	6299	exon3			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.3801C>T	16.37:g.51171197G>A			49728698	NM_002968	Q99881|Q9NSC3|Q9P1R0	Silent	SNP	ENST00000251020.4	37	CCDS10747.1																																																																																				0.592	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968	
RBL2	5934	broad.mit.edu	37	16	53501063	53501063	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr16:53501063A>G	ENST00000262133.6	+	14	2094	c.1957A>G	c.(1957-1959)Act>Gct	p.T653A	RBL2_ENST00000544545.1_Intron|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	653	Pocket; binds E1A.|Spacer.				chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)	p.T653A(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TCGTGCTGATACTGGAGGACT	0.418																																					p.T653A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1957G	16						.						119.0	120.0	120.0					16																	53501063		2198	4300	6498	52058564	SO:0001583	missense	5934	exon14			X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.1957A>G	16.37:g.53501063A>G	ENSP00000262133:p.Thr653Ala		52058564	NM_005611	B7Z913|Q15073|Q16084|Q8NE70|Q92812	Missense_Mutation	SNP	ENST00000262133.6	37	CCDS10748.1	.	.	.	.	.	.	.	.	.	.	A	6.539	0.467624	0.12402	.	.	ENSG00000103479	ENST00000262133;ENST00000379935	D	0.89343	-2.5	5.61	-4.78	0.03209	.	0.972546	0.08522	N	0.933316	T	0.67183	0.2866	N	0.03115	-0.41	0.19575	N	0.999964	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.59263	-0.7487	10	0.08179	T	0.78	-0.6692	5.4046	0.16314	0.2371:0.0:0.3381:0.4248	.	653;363;653	Q8NE70;E9PG04;Q08999	.;.;RBL2_HUMAN	A	653;363	ENSP00000262133:T653A	ENSP00000262133:T653A	T	+	1	0	RBL2	52058564	0.601000	0.26907	0.733000	0.30861	0.748000	0.42578	-0.110000	0.10824	-1.343000	0.02219	-0.290000	0.09829	ACT		0.418	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611	
IRX3	79191	broad.mit.edu	37	16	54319349	54319349	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr16:54319349C>T	ENST00000329734.3	-	2	1156	c.444G>A	c.(442-444)gaG>gaA	p.E148E		NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN	iroquois homeobox 3	148					mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of neuron differentiation (GO:0045666)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)|transcription, DNA-templated (GO:0006351)	axon (GO:0030424)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.E148E(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						TCTTGCGGTGCTCGTTGAGCC	0.632																																					p.E148E	GBM(143;1830 1866 4487 4646 37383)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G444A	16						.						142.0	109.0	120.0					16																	54319349		2198	4300	6498	52876850	SO:0001819	synonymous_variant	79191	exon2			U90308	CCDS10750.1	16q12.2	2011-06-20	2007-07-13		ENSG00000177508	ENSG00000177508		"""Homeoboxes / TALE class"""	14360	protein-coding gene	gene with protein product		612985					Standard	NM_024336		Approved	IRX-1	uc002eht.1	P78415	OTTHUMG00000133200	ENST00000329734.3:c.444G>A	16.37:g.54319349C>T			52876850	NM_024336	Q7Z4A4|Q7Z4A5|Q8IVC6	Silent	SNP	ENST00000329734.3	37	CCDS10750.1																																																																																				0.632	IRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256910.2		
MMP2	4313	broad.mit.edu	37	16	55522550	55522550	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr16:55522550C>T	ENST00000219070.4	+	6	1437	c.928C>T	c.(928-930)Cgc>Tgc	p.R310C	MMP2_ENST00000543485.1_Missense_Mutation_p.R234C|MMP2_ENST00000570308.1_Missense_Mutation_p.R234C|MMP2_ENST00000437642.2_Missense_Mutation_p.R260C	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	310	Collagen-binding.|Fibronectin type-II 2. {ECO:0000255|PROSITE-ProRule:PRU00479}.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)	p.R310C(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	CACTGAGGGCCGCACGGATGG	0.617																																					p.R310C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C928T	16						.						72.0	60.0	64.0					16																	55522550		2198	4300	6498	54080051	SO:0001583	missense	4313	exon6				CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"""matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)"", ""matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"""	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.928C>T	16.37:g.55522550C>T	ENSP00000219070:p.Arg310Cys		54080051	NM_004530	B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Missense_Mutation	SNP	ENST00000219070.4	37	CCDS10752.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.407447	0.62399	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	T;T;T	0.54675	0.56;0.56;0.56	4.93	4.93	0.64822	Peptidase M10, metallopeptidase (1);Fibronectin, type II, collagen-binding (5);Kringle-like fold (1);Peptidase, metallopeptidase (1);	0.000000	0.85682	D	0.000000	T	0.78515	0.4295	M	0.93978	3.48	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.979	D	0.84018	0.0352	10	0.87932	D	0	.	13.4232	0.61009	0.1968:0.8032:0.0:0.0	.	260;310	E9PE45;P08253	.;MMP2_HUMAN	C	310;234;260	ENSP00000219070:R310C;ENSP00000444143:R234C;ENSP00000394237:R260C	ENSP00000219070:R310C	R	+	1	0	MMP2	54080051	0.936000	0.31750	1.000000	0.80357	0.803000	0.45373	1.676000	0.37565	2.425000	0.82216	0.455000	0.32223	CGC		0.617	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3		
CDH11	1009	broad.mit.edu	37	16	65032491	65032491	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr16:65032491G>A	ENST00000268603.4	-	4	1112	c.497C>T	c.(496-498)gCc>gTc	p.A166V	CDH11_ENST00000394156.3_Missense_Mutation_p.A166V|CDH11_ENST00000566827.1_Missense_Mutation_p.A40V	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	166	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A166V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		AGGCACGTTGGCATGATAGGT	0.587			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																											p.A166V			Dom	yes		16	16q22.1	1009	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""		M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C497T	16						.						135.0	122.0	127.0					16																	65032491		2203	4300	6503	63589992	SO:0001583	missense	1009	exon4			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.497C>T	16.37:g.65032491G>A	ENSP00000268603:p.Ala166Val		63589992	NM_001797	A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	CCDS10803.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.5|29.5	5.014915|5.014915	0.93404|0.93404	.|.	.|.	ENSG00000140937|ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390|ENST00000536902	T;T|.	0.52295|.	0.67;0.67|.	5.24|5.24	5.24|5.24	0.73138|0.73138	Cadherin (4);Cadherin-like (1);|.	0.097510|.	0.64402|.	D|.	0.000001|.	T|T	0.55768|0.55768	0.1941|0.1941	N|N	0.16903|0.16903	0.455|0.455	0.80722|0.80722	D|D	1|1	D;P|.	0.59357|.	0.985;0.947|.	P;P|.	0.55999|.	0.558;0.789|.	T|T	0.60037|0.60037	-0.7341|-0.7341	10|6	0.52906|0.62326	T|D	0.07|0.03	.|.	18.3537|18.3537	0.90348|0.90348	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	166;166|.	P55287-2;P55287|.	.;CAD11_HUMAN|.	V|S	166;166;149|160	ENSP00000268603:A166V;ENSP00000377711:A166V|.	ENSP00000268603:A166V|ENSP00000442264:P160S	A|P	-|-	2|1	0|0	CDH11|CDH11	63589992|63589992	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	9.601000|9.601000	0.98297|0.98297	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	GCC|CCA		0.587	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664	
CMTM1	113540	broad.mit.edu	37	16	66600663	66600663	+	Intron	SNP	A	A	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr16:66600663A>T	ENST00000457188.2	+	1	202				CMTM1_ENST00000379500.2_Missense_Mutation_p.T83S|CMTM1_ENST00000332695.7_Intron|CMTM1_ENST00000535705.1_Intron|CMTM1_ENST00000528324.1_Intron|CKLF-CMTM1_ENST00000527729.1_Intron|CMTM1_ENST00000531885.1_Intron|CMTM1_ENST00000533953.1_Missense_Mutation_p.T83S|CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000529506.1_Intron|CMTM1_ENST00000328020.6_Missense_Mutation_p.T83S|CMTM1_ENST00000336328.6_Intron	NM_181269.2	NP_851786.1	Q8IZ96	CKLF1_HUMAN	CKLF-like MARVEL transmembrane domain containing 1						chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.T83S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		GAAAGCCACCACACGCCCACC	0.637																																					p.T83S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A247T	16						.						54.0	70.0	64.0					16																	66600663		2201	4300	6501	65158164	SO:0001627	intron_variant	113540	exon1			AF278577	CCDS10810.1, CCDS10811.1, CCDS10812.2, CCDS45503.1, CCDS45504.1, CCDS54019.1, CCDS54020.1, CCDS54021.1	16q22.1	2009-10-06	2005-11-08	2005-11-08	ENSG00000089505	ENSG00000089505			19172	protein-coding gene	gene with protein product		607884	"""chemokine-like factor super family 1"", ""chemokine-like factor superfamily 1"""	CKLFSF1		12782130	Standard	NM_181268		Approved	CKLFH1a, CKLFH	uc002epr.4	Q8IZ96	OTTHUMG00000137502	ENST00000457188.2:c.81+166A>T	16.37:g.66600663A>T			65158164	NM_052999	Q2PPY5|Q6PEV5|Q8IU76|Q8IU83|Q8IU86|Q8IU93|Q8IZ87|Q8IZ88|Q8IZ89|Q8IZ90|Q8IZ91|Q8IZ92|Q8IZ93|Q8IZ94|Q8IZ95|Q96JC2|Q96JC3	Missense_Mutation	SNP	ENST00000457188.2	37	CCDS45503.1	.	.	.	.	.	.	.	.	.	.	A	3.909	-0.020544	0.07634	.	.	ENSG00000089505	ENST00000533953;ENST00000379500;ENST00000328020	T;T;T	0.42513	0.97;1.96;1.97	0.351	0.351	0.16042	.	11.871800	0.00659	N	0.000590	T	0.15522	0.0374	.	.	.	0.09310	N	1	P;P;B	0.40909	0.732;0.473;0.307	B;B;B	0.31101	0.124;0.045;0.045	T	0.29971	-0.9994	8	0.02654	T	1	0.0626	.	.	.	.	83;83;83	E9PIL3;Q6PEV5;E9PAX0	.;.;.	S	83	ENSP00000435786:T83S;ENSP00000368814:T83S;ENSP00000330061:T83S	ENSP00000330061:T83S	T	+	1	0	CMTM1	65158164	0.000000	0.05858	0.003000	0.11579	0.026000	0.11368	-1.241000	0.02911	0.338000	0.23692	0.332000	0.21555	ACA		0.637	CMTM1-015	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390261.2	NM_052999	
RRAD	6236	broad.mit.edu	37	16	66956123	66956123	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr16:66956123G>A	ENST00000299759.6	-	5	1033	c.783C>T	c.(781-783)aaC>aaT	p.N261N	RRAD_ENST00000420652.1_Silent_p.N261N			P55042	RAD_HUMAN	Ras-related associated with diabetes	261					small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.N261N(1)		endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		GCCGTCGTGCGTTGGCTTCTT	0.592																																					p.N261N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C783T	16						.						97.0	74.0	82.0					16																	66956123		2200	4300	6500	65513624	SO:0001819	synonymous_variant	6236	exon5			L24564	CCDS10824.1	16q22	2014-05-09			ENSG00000166592	ENSG00000166592			10446	protein-coding gene	gene with protein product		179503				7859947	Standard	NM_004165		Approved	REM3, RAD	uc002eqo.2	P55042	OTTHUMG00000137511	ENST00000299759.6:c.783C>T	16.37:g.66956123G>A			65513624	NM_004165	Q96F39	Silent	SNP	ENST00000299759.6	37	CCDS10824.1																																																																																				0.592	RRAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268830.1	NM_004165	
CES3	23491	broad.mit.edu	37	16	67005117	67005117	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr16:67005117C>A	ENST00000303334.4	+	10	1257	c.1186C>A	c.(1186-1188)Cta>Ata	p.L396I	CES3_ENST00000543856.1_Missense_Mutation_p.L35I|CES3_ENST00000394037.1_Missense_Mutation_p.L396I	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	396						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	carboxylic ester hydrolase activity (GO:0052689)	p.L396I(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		AGATGAATACCTAGGAAGCAA	0.542																																					p.L396I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1186A	16						.						111.0	93.0	99.0					16																	67005117		2200	4300	6500	65562618	SO:0001583	missense	23491	exon10			AK025389	CCDS10826.1, CCDS54022.1, CCDS54023.1	16q22.1	2014-05-13	2008-07-25		ENSG00000172828	ENSG00000172828		"""Carboxylesterases"""	1865	protein-coding gene	gene with protein product	"""esterase 31"", ""brain carboxylesterase BR3"""	605279	"""carboxylesterase 3 (brain)"""			10518925, 14581373, 15100172, 20931200	Standard	NM_001185176		Approved	FLJ21736, ES31	uc002eqt.3	Q6UWW8	OTTHUMG00000137525	ENST00000303334.4:c.1186C>A	16.37:g.67005117C>A	ENSP00000304782:p.Leu396Ile		65562618	NM_001185177	B2Z3W9|F5H242|Q7Z6J1|Q9H6X7	Missense_Mutation	SNP	ENST00000303334.4	37	CCDS10826.1	.	.	.	.	.	.	.	.	.	.	C	9.588	1.125285	0.20959	.	.	ENSG00000172828	ENST00000303334;ENST00000394037;ENST00000543856	T;T;T	0.12147	2.71;2.71;2.71	4.51	-5.27	0.02763	Carboxylesterase, type B (1);	1.592850	0.04438	N	0.370342	T	0.07863	0.0197	L	0.37750	1.13	0.09310	N	1	B;B	0.34200	0.441;0.036	B;B	0.28991	0.097;0.06	T	0.27938	-1.0059	10	0.31617	T	0.26	.	1.6088	0.02689	0.3934:0.2522:0.2065:0.1479	.	35;396	F5H242;Q6UWW8	.;EST3_HUMAN	I	396;396;35	ENSP00000304782:L396I;ENSP00000377602:L396I;ENSP00000445559:L35I	ENSP00000304782:L396I	L	+	1	2	CES3	65562618	0.024000	0.19004	0.004000	0.12327	0.005000	0.04900	-0.611000	0.05622	-0.655000	0.05387	-2.059000	0.00401	CTA		0.542	CES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268848.1	NM_024922	
SLC12A4	6560	broad.mit.edu	37	16	67979889	67979889	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr16:67979889G>A	ENST00000316341.3	-	20	2844	c.2704C>T	c.(2704-2706)Ctg>Ttg	p.L902L	SLC12A4_ENST00000537830.2_Silent_p.L896L|LCAT_ENST00000264005.5_5'Flank|SLC12A4_ENST00000572037.1_Silent_p.L854L|SLC12A4_ENST00000541864.2_Silent_p.L871L|CTC-479C5.17_ENST00000590594.1_lincRNA|SLC12A4_ENST00000338335.3_3'UTR|SLC12A4_ENST00000422611.2_Silent_p.L904L|SLC12A4_ENST00000576616.1_Silent_p.L902L	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	902					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCAAGGCGCAGATGGTACAGA	0.612																																					p.L871L												.	.	0			c.C2611T	16						.						131.0	104.0	113.0					16																	67979889		2198	4300	6498	66537390	SO:0001819	synonymous_variant	6560	exon20				CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"""Solute carriers"""	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.2704C>T	16.37:g.67979889G>A			66537390	NM_001145964	B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Silent	SNP	ENST00000316341.3	37	CCDS10855.1																																																																																				0.612	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072	
PLA2G15	23659	broad.mit.edu	37	16	68283282	68283282	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr16:68283282T>C	ENST00000219345.5	+	2	300	c.217T>C	c.(217-219)Ttc>Ctc	p.F73L	PLA2G15_ENST00000444212.2_Intron|PLA2G15_ENST00000566188.1_Missense_Mutation_p.F73L|PLA2G15_ENST00000413021.2_Intron|PLA2G15_ENST00000568599.1_3'UTR	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	73					ceramide metabolic process (GO:0006672)|fatty acid catabolic process (GO:0009062)|phosphatidylcholine metabolic process (GO:0046470)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)|O-acyltransferase activity (GO:0008374)|phospholipid binding (GO:0005543)	p.F73L(1)		kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						CGAAAGCTACTTCACAATCTG	0.567																																					p.F73L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T217C	16						.						127.0	99.0	108.0					16																	68283282		2198	4300	6498	66840783	SO:0001583	missense	23659	exon2			AB017494	CCDS10864.1	16q22.1	2008-09-19	2008-09-19	2008-09-19	ENSG00000103066	ENSG00000103066			17163	protein-coding gene	gene with protein product		609362	"""lysophospholipase 3 (lysosomal phospholipase A2)"""	LYPLA3		10092508, 16973413	Standard	XM_005255886		Approved	LLPL, GXVPLA2	uc002evr.3	Q8NCC3	OTTHUMG00000137554	ENST00000219345.5:c.217T>C	16.37:g.68283282T>C	ENSP00000219345:p.Phe73Leu		66840783	NM_012320	B3KMF3|B4DUD1|Q53GZ1|Q9NPQ6|Q9UG04|Q9Y2B3	Missense_Mutation	SNP	ENST00000219345.5	37	CCDS10864.1	.	.	.	.	.	.	.	.	.	.	T	33	5.261897	0.95368	.	.	ENSG00000103066	ENST00000219345	D	0.95377	-3.69	5.49	5.49	0.81192	.	0.044969	0.85682	D	0.000000	D	0.97648	0.9229	M	0.83312	2.635	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.992;0.996	D	0.97794	1.0240	10	0.46703	T	0.11	-23.9388	15.5477	0.76118	0.0:0.0:0.0:1.0	.	73;73	B4DJW4;Q8NCC3	.;PAG15_HUMAN	L	73	ENSP00000219345:F73L	ENSP00000219345:F73L	F	+	1	0	PLA2G15	66840783	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.948000	0.87774	2.219000	0.72066	0.459000	0.35465	TTC		0.567	PLA2G15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268888.2	NM_012320	
SLC7A6	9057	broad.mit.edu	37	16	68308851	68308851	+	Silent	SNP	T	T	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr16:68308851T>A	ENST00000566454.1	+	4	491	c.222T>A	c.(220-222)acT>acA	p.T74T	SLC7A6_ENST00000219343.6_Silent_p.T74T	NM_001076785.2	NP_001070253.1			solute carrier family 7 (amino acid transporter light chain, y+L system), member 6									p.T74T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		TGGTACACACTGCCTCCTATG	0.552																																					p.T74T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T222A	16						.						189.0	176.0	180.0					16																	68308851		2198	4300	6498	66866352	SO:0001819	synonymous_variant	9057	exon3			D87432	CCDS32470.1	16q22.1	2013-07-15	2011-07-12		ENSG00000103064	ENSG00000103064		"""Solute carriers"""	11064	protein-coding gene	gene with protein product		605641				9878049	Standard	NM_001076785		Approved	y+LAT-2, KIAA0245, LAT3, LAT-2	uc002evu.2	Q92536	OTTHUMG00000176544	ENST00000566454.1:c.222T>A	16.37:g.68308851T>A			66866352	NM_003983		Silent	SNP	ENST00000566454.1	37	CCDS32470.1																																																																																				0.552	SLC7A6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432466.1	NM_003983	
CLEC18C	283971	broad.mit.edu	37	16	70219844	70219844	+	Missense_Mutation	SNP	G	G	A	rs560740555	byFrequency	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr16:70219844G>A	ENST00000569347.2	+	11	1522	c.1268G>A	c.(1267-1269)cGc>cAc	p.R423H	CLEC18C_ENST00000536907.2_Missense_Mutation_p.R432H|CLEC18C_ENST00000541793.2_Missense_Mutation_p.R423H|CLEC18C_ENST00000314151.8_Missense_Mutation_p.R423H	NM_173619.2	NP_775890.2	Q8NCF0	CL18C_HUMAN	C-type lectin domain family 18, member C	423	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.R423H(2)		endometrium(3)|large_intestine(6)|lung(1)	10						AACAACCAGCGCTGCAAAACC	0.587													g|||	2	0.000399361	0.0	0.0	5008	,	,		17169	0.0		0.002	False		,,,				2504	0.0				p.R423H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1268A	16						.						94.0	132.0	119.0					16																	70219844		2076	4297	6373	68777345	SO:0001583	missense	283971	exon11			AL833339	CCDS32473.1	16q22.1	2010-04-27	2009-03-10	2009-03-10		ENSG00000157335		"""C-type lectin domain containing"""	28538	protein-coding gene	gene with protein product						12477932	Standard	XM_005255906		Approved	MGC34761		Q8NCF0		ENST00000569347.2:c.1268G>A	16.37:g.70219844G>A	ENSP00000455920:p.Arg423His		68777345	NM_173619	Q8IUW8	Missense_Mutation	SNP	ENST00000569347.2	37	CCDS32473.1	.	.	.	.	.	.	.	.	.	.	g	20.3	3.962318	0.74016	.	.	ENSG00000157335	ENST00000541793;ENST00000314151;ENST00000536907	T;T;T	0.55052	0.54;0.54;0.54	4.34	4.34	0.51931	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	0.069626	0.64402	D	0.000019	T	0.55000	0.1893	L	0.33339	1.005	0.48341	D	0.999634	D;D	0.61697	0.98;0.99	P;P	0.56823	0.807;0.707	T	0.57625	-0.7779	10	0.54805	T	0.06	.	12.7412	0.57253	0.0:0.0:1.0:0.0	.	423;432	Q8NCF0;F8W692	CL18C_HUMAN;.	H	423;423;432	ENSP00000444875:R423H;ENSP00000326538:R423H;ENSP00000444726:R432H	ENSP00000326538:R423H	R	+	2	0	CLEC18C	68777345	1.000000	0.71417	0.990000	0.47175	0.958000	0.62258	3.543000	0.53633	2.132000	0.65825	0.450000	0.29827	CGC		0.587	CLEC18C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434588.2	NM_173619	
FUK	197258	broad.mit.edu	37	16	70508837	70508837	+	Missense_Mutation	SNP	G	G	A	rs572464313		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr16:70508837G>A	ENST00000288078.6	+	18	2532	c.2300G>A	c.(2299-2301)cGg>cAg	p.R767Q	FUK_ENST00000571514.1_Missense_Mutation_p.R258Q|FUK_ENST00000378912.2_Missense_Mutation_p.R799Q	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	767						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)	p.R767Q(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				GTGGGGCCTCGGCAGGATGAG	0.697													G|||	1	0.000199681	0.0	0.0	5008	,	,		15052	0.0		0.0	False		,,,				2504	0.001				p.R767Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2300A	16						.						18.0	26.0	23.0					16																	70508837		2066	4170	6236	69066338	SO:0001583	missense	197258	exon18				CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"""L-fucose kinase"""	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085	ENST00000288078.6:c.2300G>A	16.37:g.70508837G>A	ENSP00000288078:p.Arg767Gln		69066338	NM_145059	Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Missense_Mutation	SNP	ENST00000288078.6	37	CCDS10891.2	.	.	.	.	.	.	.	.	.	.	G	4.895	0.166313	0.09339	.	.	ENSG00000157353	ENST00000288078;ENST00000378912;ENST00000538525	D;D	0.91631	-2.88;-2.88	5.49	-5.59	0.02505	Ribosomal protein S5 domain 2-type fold (1);	0.674786	0.15043	N	0.283747	D	0.86772	0.6013	L	0.60455	1.87	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.002;0.001;0.001	T	0.69038	-0.5251	10	0.15499	T	0.54	-7.3058	13.9132	0.63881	0.6508:0.0:0.3492:0.0	.	799;673;767	Q8N0W3-2;B2RDL5;Q8N0W3	.;.;FUK_HUMAN	Q	767;799;81	ENSP00000288078:R767Q;ENSP00000368192:R799Q	ENSP00000288078:R767Q	R	+	2	0	FUK	69066338	0.000000	0.05858	0.610000	0.28997	0.662000	0.39071	-1.783000	0.01770	-1.065000	0.03168	-0.137000	0.14449	CGG		0.697	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157291.2	NM_145059	
SF3B3	23450	broad.mit.edu	37	16	70605102	70605102	+	Splice_Site	SNP	G	G	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr16:70605102G>T	ENST00000302516.5	+	25	3724	c.3513G>T	c.(3511-3513)aaG>aaT	p.K1171N		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	1171					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)	p.K1171N(1)		breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				TCCCTGTGAAGGTAGGTTGGG	0.552																																					p.K1171N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3513T	16						.						86.0	74.0	78.0					16																	70605102		2198	4300	6498	69162603	SO:0001630	splice_region_variant	23450	exon25			AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"""splicing factor 3b, subunit 3, 130kD"""			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.3513+1G>T	16.37:g.70605102G>T			69162603	NM_012426	Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Missense_Mutation	SNP	ENST00000302516.5	37	CCDS10894.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.935866	0.92458	.	.	ENSG00000189091	ENST00000302516	T	0.50813	0.73	5.78	5.78	0.91487	Cleavage/polyadenylation specificity factor, A subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.78635	0.4314	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.83606	0.0131	10	0.87932	D	0	.	20.0139	0.97470	0.0:0.0:1.0:0.0	.	1171	Q15393	SF3B3_HUMAN	N	1171	ENSP00000305790:K1171N	ENSP00000305790:K1171N	K	+	3	2	SF3B3	69162603	1.000000	0.71417	1.000000	0.80357	0.629000	0.37895	9.768000	0.98965	2.724000	0.93272	0.563000	0.77884	AAG		0.552	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426	Missense_Mutation
DHODH	1723	broad.mit.edu	37	16	72045977	72045977	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr16:72045977T>C	ENST00000219240.4	+	2	71	c.50T>C	c.(49-51)cTg>cCg	p.L17P	DHODH_ENST00000572887.1_Missense_Mutation_p.L17P	NM_001361.4	NP_001352.2	Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase (quinone)	17					'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of apoptotic process (GO:0043065)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|regulation of mitochondrial fission (GO:0090140)|response to caffeine (GO:0031000)|response to drug (GO:0042493)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|neuronal cell body (GO:0043025)	dihydroorotate dehydrogenase activity (GO:0004152)|dihydroorotate oxidase activity (GO:0004158)|drug binding (GO:0008144)|FMN binding (GO:0010181)|ubiquinone binding (GO:0048039)	p.L17P(1)		breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)|Teriflunomide(DB08880)	GTGATCATCCTGGGGGGAGGA	0.602																																					p.L17P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T50C	16						.						74.0	78.0	77.0					16																	72045977		2087	4212	6299	70603478	SO:0001583	missense	1723	exon2				CCDS42192.1	16q22.2	2012-10-02	2011-09-05		ENSG00000102967	ENSG00000102967	1.3.5.2		2867	protein-coding gene	gene with protein product		126064	"""dihydroorotate dehydrogenase"""			8211381	Standard	NM_001361		Approved		uc002fbp.3	Q02127	OTTHUMG00000178093	ENST00000219240.4:c.50T>C	16.37:g.72045977T>C	ENSP00000219240:p.Leu17Pro		70603478	NM_001361	A8K8C8|Q6P176	Missense_Mutation	SNP	ENST00000219240.4	37	CCDS42192.1	.	.	.	.	.	.	.	.	.	.	T	12.00	1.805959	0.31961	.	.	ENSG00000102967	ENST00000219240	D	0.86562	-2.14	4.42	4.42	0.53409	.	0.065032	0.64402	D	0.000010	D	0.88948	0.6576	L	0.55481	1.735	0.80722	D	1	D	0.55605	0.972	P	0.55667	0.781	D	0.88820	0.3298	10	0.46703	T	0.11	-10.8378	12.993	0.58630	0.0:0.0:0.0:1.0	.	17	Q02127	PYRD_HUMAN	P	17	ENSP00000219240:L17P	ENSP00000219240:L17P	L	+	2	0	DHODH	70603478	1.000000	0.71417	1.000000	0.80357	0.669000	0.39330	6.869000	0.75521	1.858000	0.53909	0.460000	0.39030	CTG		0.602	DHODH-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001361	
FA2H	79152	broad.mit.edu	37	16	74750360	74750360	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr16:74750360G>A	ENST00000219368.3	-	6	993	c.924C>T	c.(922-924)taC>taT	p.Y308Y	FA2H_ENST00000544337.1_Silent_p.Y95Y	NM_024306.4	NP_077282.3	Q7L5A8	FA2H_HUMAN	fatty acid 2-hydroxylase	308					cell death (GO:0008219)|central nervous system myelin maintenance (GO:0032286)|fatty acid biosynthetic process (GO:0006633)|lipid modification (GO:0030258)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of cell proliferation (GO:0042127)|regulation of hair cycle (GO:0042634)|sebaceous gland cell differentiation (GO:0001949)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	fatty acid alpha-hydroxylase activity (GO:0080132)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.Y308Y(1)		endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						CATAGAGGACGTAGCCCAGGA	0.602																																					p.Y308Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C924T	16						.						89.0	71.0	77.0					16																	74750360		2198	4300	6498	73307861	SO:0001819	synonymous_variant	79152	exon6			BC002679	CCDS10911.1	16q23	2013-03-04	2003-10-29	2003-10-31	ENSG00000103089	ENSG00000103089		"""Fatty acid hydroxylase domain containing"""	21197	protein-coding gene	gene with protein product	"""fatty acid hydroxylase"""	611026	"""fatty acid hydroxylase domain containing 1"", ""spastic paraplegia 35 (autosomal recessive)"""	FAXDC1, SPG35		20104589	Standard	NM_024306		Approved	FAAH, FLJ25287	uc002fde.2	Q7L5A8	OTTHUMG00000137603	ENST00000219368.3:c.924C>T	16.37:g.74750360G>A			73307861	NM_024306	B7Z8T6|O75213|Q96DK1|Q9H1A5	Silent	SNP	ENST00000219368.3	37	CCDS10911.1																																																																																				0.602	FA2H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269015.2	NM_024306	
KCNG4	93107	broad.mit.edu	37	16	84270605	84270605	+	Missense_Mutation	SNP	G	G	A	rs369257369		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr16:84270605G>A	ENST00000308251.4	-	2	555	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W	KCNG4_ENST00000568181.1_Missense_Mutation_p.R163W	NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	163					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						AGCAGCTTCCGCAGGCAGCAC	0.672																																					p.R163W												.	.	0			c.C487T	16						.						35.0	33.0	34.0					16																	84270605		2200	4300	6500	82828106	SO:0001583	missense	93107	exon2			AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19697	protein-coding gene	gene with protein product		607603				12060745, 16382104	Standard	NM_172347		Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.487C>T	16.37:g.84270605G>A	ENSP00000312129:p.Arg163Trp		82828106	NM_172347	Q96H24	Missense_Mutation	SNP	ENST00000308251.4	37	CCDS10945.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.641221	0.67244	.	.	ENSG00000168418	ENST00000308251	D	0.96716	-4.1	5.11	4.07	0.47477	BTB/POZ-like (1);BTB/POZ fold (2);	0.056646	0.64402	D	0.000005	D	0.98061	0.9361	M	0.87900	2.915	0.44579	D	0.997544	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.989	D	0.98472	1.0601	10	0.72032	D	0.01	.	13.7556	0.62935	0.0:0.0:0.7569:0.2431	.	163;163	Q8TDN1;Q8TDN1-2	KCNG4_HUMAN;.	W	163	ENSP00000312129:R163W	ENSP00000312129:R163W	R	-	1	2	KCNG4	82828106	0.402000	0.25311	0.983000	0.44433	0.796000	0.44982	1.773000	0.38563	2.364000	0.80123	0.549000	0.68633	CGG		0.672	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269079.2	NM_172347	
ZDHHC7	55625	broad.mit.edu	37	16	85012871	85012871	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr16:85012871C>T	ENST00000313732.4	-	5	813	c.461G>A	c.(460-462)cGg>cAg	p.R154Q	ZDHHC7_ENST00000569488.1_5'UTR|ZDHHC7_ENST00000564466.1_Missense_Mutation_p.R191Q	NM_017740.2	NP_060210.2	Q9NXF8	ZDHC7_HUMAN	zinc finger, DHHC-type containing 7	154					peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.R154Q(1)		large_intestine(6)|lung(4)	10						ATCCATTTTCCGAATACATCT	0.348																																					p.R154Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G461A	16						.						102.0	99.0	100.0					16																	85012871		2199	4300	6499	83570372	SO:0001583	missense	55625	exon5			AK000286	CCDS10950.1, CCDS45538.1	16q23.1	2010-02-09			ENSG00000153786	ENSG00000153786		"""Zinc fingers, DHHC-type"""	18459	protein-coding gene	gene with protein product	"""Sertoli cell gene with zinc finger domain-&#946;"""	614604					Standard	NM_017740		Approved	FLJ10792, ZNF370, FLJ20279, SERZ-B, SERZ1	uc002fiq.2	Q9NXF8	OTTHUMG00000137645	ENST00000313732.4:c.461G>A	16.37:g.85012871C>T	ENSP00000315604:p.Arg154Gln		83570372	NM_017740	D3DUM1|Q8WV42|Q9NVD8	Missense_Mutation	SNP	ENST00000313732.4	37	CCDS10950.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.104286	0.76983	.	.	ENSG00000153786	ENST00000313732;ENST00000344861	T;T	0.35236	1.32;1.32	5.41	4.46	0.54185	Zinc finger, DHHC-type, palmitoyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.54351	0.1853	M	0.78285	2.405	0.80722	D	1	P;D	0.54397	0.921;0.966	B;P	0.55923	0.395;0.787	T	0.61088	-0.7133	10	0.72032	D	0.01	-28.5464	13.4329	0.61066	0.0:0.9243:0.0:0.0757	.	191;154	Q9NXF8-2;Q9NXF8	.;ZDHC7_HUMAN	Q	154;191	ENSP00000315604:R154Q;ENSP00000341681:R191Q	ENSP00000315604:R154Q	R	-	2	0	ZDHHC7	83570372	1.000000	0.71417	0.999000	0.59377	0.241000	0.25554	7.666000	0.83877	1.277000	0.44412	0.655000	0.94253	CGG		0.348	ZDHHC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269087.1	NM_017740	
MVD	4597	broad.mit.edu	37	16	88721712	88721712	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr16:88721712G>A	ENST00000301012.3	-	7	821	c.792C>T	c.(790-792)caC>caT	p.H264H	MVD_ENST00000568709.1_5'Flank	NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN	mevalonate (diphospho) decarboxylase	264					cellular protein metabolic process (GO:0044267)|cholesterol biosynthetic process (GO:0006695)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|isoprenoid biosynthetic process (GO:0008299)|positive regulation of cell proliferation (GO:0008284)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|diphosphomevalonate decarboxylase activity (GO:0004163)|Hsp70 protein binding (GO:0030544)|protein homodimerization activity (GO:0042803)	p.H264H(1)		endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GGCAGGTGGCGTGGAACTGGT	0.652																																					p.H264H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C792T	16						.																																			87249213	SO:0001819	synonymous_variant	4597	exon7			U49260	CCDS10968.1	16q24.3	2010-04-29			ENSG00000167508	ENSG00000167508	4.1.1.33		7529	protein-coding gene	gene with protein product	"""mevalonate pyrophosphate decarboxylase"""	603236				8626466	Standard	NM_002461		Approved	MPD	uc002flg.1	P53602	OTTHUMG00000137865	ENST00000301012.3:c.792C>T	16.37:g.88721712G>A			87249213	NM_002461	Q53Y65	Silent	SNP	ENST00000301012.3	37	CCDS10968.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.291117	0.23564	.	.	ENSG00000167508	ENST00000378400	.	.	.	4.53	-5.91	0.02269	.	.	.	.	.	T	0.67562	0.2906	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74325	-0.3702	5	0.72032	D	0.01	-20.5352	13.4879	0.61377	0.6431:0.0:0.3569:0.0	.	.	.	.	C	93	.	ENSP00000367653:R93C	R	-	1	0	MVD	87249213	0.692000	0.27719	0.958000	0.39756	0.991000	0.79684	-0.209000	0.09358	-0.933000	0.03737	0.491000	0.48974	CGC		0.652	MVD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269547.2	NM_002461	
ABCC6P2	730013	broad.mit.edu	37	16	14916698	14916698	+	IGR	DEL	C	C	-			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr16:14916698delC								NPIPA2 (57428 upstream) : NOMO1 (10839 downstream)																							TCCCCTGCCTCCCCCCACCAT	0.542																																					.												.	.	0			.	16						.																																			14824199	SO:0001628	intergenic_variant	730013	.																															16.37:g.14916698delC			14824199	.		Frame_Shift_Del	DEL		37																																																																																				0	0.542								
GGA2	23062	broad.mit.edu	37	16	23478955	23478957	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	CTC	CTC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr16:23478955_23478957delCTC	ENST00000309859.4	-	17	1878_1880	c.1796_1798delGAG	c.(1795-1800)ggagaa>gaa	p.G599del	GGA2_ENST00000567468.1_Intron	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	599	GAE. {ECO:0000255|PROSITE- ProRule:PRU00093}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)	p.G599delG(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		TCTTTCACTTCTCCTACTTCGCT	0.493																																					p.599_600del												.	.	1	Deletion - In frame(1)	large_intestine(1)	c.1796_1798del	16						.																																			23386458	SO:0001651	inframe_deletion	23062	exon17			AF190863	CCDS10611.1	16p12	2010-02-12	2010-02-12		ENSG00000103365	ENSG00000103365			16064	protein-coding gene	gene with protein product		606005				10747088, 10749927	Standard	NM_015044		Approved	VEAR, KIAA1080	uc002dlq.3	Q9UJY4	OTTHUMG00000096957	ENST00000309859.4:c.1796_1798delGAG	16.37:g.23478955_23478957delCTC	ENSP00000311962:p.Gly599del		23386456	NM_015044	D3DWF0|O14564|Q9NYN2|Q9UPS2	In_Frame_Del	DEL	ENST00000309859.4	37	CCDS10611.1																																																																																				0.493	GGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214019.1		
INO80E	283899	broad.mit.edu	37	16	30016653	30016653	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr16:30016653delC	ENST00000563197.1	+	7	1642	c.625delC	c.(625-627)cccfs	p.P211fs	INO80E_ENST00000567705.1_Frame_Shift_Del_p.P194fs|INO80E_ENST00000304516.7_Frame_Shift_Del_p.P172fs	NM_173618.1	NP_775889.1	Q8NBZ0	IN80E_HUMAN	INO80 complex subunit E	211	Pro-rich.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.T212fs*3(1)		endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	6						CCCTAAGATGCCCCCCCCCAC	0.672																																					p.P209fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.625delC	16						.			76,238,3860		1,0,74,7,224,1781	15.0	13.0	13.0			4.9	1.0	16		13	126,491,7513		2,2,120,10,469,3462	no	codingComplex	INO80E	NM_173618.1		3,2,194,17,693,5243	A1A1,A1A2,A1R,A2A2,A2R,RR		7.5892,7.5228,7.5666			30016653	202,729,11373	2173	4255	6428	29924154	SO:0001589	frameshift_variant	283899	exon7			AK075133	CCDS10665.1	16p11.2	2011-07-06	2008-08-07	2008-08-07	ENSG00000169592	ENSG00000169592		"""INO80 complex subunits"""	26905	protein-coding gene	gene with protein product			"""coiled-coil domain containing 95"""	CCDC95		16230350	Standard	NM_173618		Approved	FLJ90652	uc002dvg.1	Q8NBZ0	OTTHUMG00000132114	ENST00000563197.1:c.625delC	16.37:g.30016653delC	ENSP00000457016:p.Pro211fs		29924154	NM_173618	Q6Y2K3	Frame_Shift_Del	DEL	ENST00000563197.1	37	CCDS10665.1																																																																																				0.672	INO80E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255156.2	NM_173618	
SPG7	6687	broad.mit.edu	37	16	89598990	89598990	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr16:89598990T>A	ENST00000268704.2	+	9	1285	c.1270T>A	c.(1270-1272)Ttc>Atc	p.F424I	RNU7-117P_ENST00000516770.1_RNA|SPG7_ENST00000341316.2_Missense_Mutation_p.F424I	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	424					anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)	p.F424I(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		CATGTCCGGCTTCTCCAACAC	0.622																																					p.F424I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1270A	16						.						43.0	43.0	43.0					16																	89598990		2198	4299	6497	88126491	SO:0001583	missense	6687	exon9			Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"""ATPases / AAA-type"""	11237	protein-coding gene	gene with protein product	"""paraplegin"""	602783	"""cell matrix adhesion regulator"""	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.1270T>A	16.37:g.89598990T>A	ENSP00000268704:p.Phe424Ile		88126491	NM_003119	O75756|Q2TB70|Q58F00|Q96IB0	Missense_Mutation	SNP	ENST00000268704.2	37	CCDS10977.1	.	.	.	.	.	.	.	.	.	.	T	15.12	2.737609	0.49045	.	.	ENSG00000197912	ENST00000268704;ENST00000341316	D;D	0.94417	-3.42;-3.42	5.45	4.33	0.51752	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);Peptidase M41, FtsH (2);	0.045173	0.85682	D	0.000000	D	0.86744	0.6006	N	0.12182	0.205	0.58432	D	0.999998	B;B	0.20988	0.004;0.05	B;B	0.21917	0.026;0.037	T	0.79448	-0.1799	10	0.21540	T	0.41	.	10.1266	0.42654	0.0:0.0834:0.0:0.9166	.	424;424	Q9UQ90;Q9UQ90-2	SPG7_HUMAN;.	I	424	ENSP00000268704:F424I;ENSP00000341157:F424I	ENSP00000268704:F424I	F	+	1	0	SPG7	88126491	1.000000	0.71417	0.994000	0.49952	0.840000	0.47671	5.908000	0.69916	0.902000	0.36520	0.374000	0.22700	TTC		0.622	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269921.2	NM_003119	
SLFN12L	100506736	broad.mit.edu	37	17	33806619	33806620	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr17:33806619_33806620insA	ENST00000260908.7	-	2	726_727	c.609_610insT	c.(607-612)tttaacfs	p.N204fs	RP11-686D22.9_ENST00000587076.1_RNA|SLFN12L_ENST00000361112.4_Frame_Shift_Ins_p.N233fs|SLFN12L_ENST00000449046.1_Frame_Shift_Ins_p.N235fs	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	204						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)	p.N235fs*1(4)		breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						TCTGTTCTGTTAAAAAAATCAG	0.371																																					p.N204_R205delinsX												.	.	4	Insertion - Frameshift(4)	large_intestine(4)	c.610_611insT	17						.			0,3970		0,0,1985						2.6	0.7			64	3,8049		0,3,4023	no	frameshift	SLFN12L	NM_001195790.1		0,3,6008	A1A1,A1R,RR		0.0373,0.0,0.025				3,12019				30830733	SO:0001589	frameshift_variant	342615	exon2			AK172761	CCDS56026.1	17q12	2011-05-24				ENSG00000205045			33920	protein-coding gene	gene with protein product		614956				9846487	Standard	NM_001195790		Approved		uc021tuy.1	Q6IEE8		ENST00000260908.7:c.610dupT	17.37:g.33806626_33806626dupA	ENSP00000437635:p.Asn204fs		30830732	NM_001195790	F5H6G3	Frame_Shift_Ins	INS	ENST00000260908.7	37	CCDS56026.1																																																																																				0.371	SLFN12L-004	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395748.2	XM_496206	
MYH13	8735	broad.mit.edu	37	17	10231256	10231256	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr17:10231256C>T	ENST00000418404.3	-	21	2781	c.2618G>A	c.(2617-2619)cGc>cAc	p.R873H	RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.R873H			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	873					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTCCTTCCGGCGAGCCTCAGA	0.537											OREG0024177	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R873H												.	.	0			c.G2618A	17						.						66.0	70.0	69.0					17																	10231256		2190	4298	6488	10171981	SO:0001583	missense	8735	exon22			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.2618G>A	17.37:g.10231256C>T	ENSP00000404570:p.Arg873His	663	10171981	NM_003802	O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.488803	0.44249	.	.	ENSG00000006788	ENST00000252172;ENST00000418404	D	0.83591	-1.74	4.01	0.94	0.19513	.	.	.	.	.	D	0.87541	0.6203	M	0.91406	3.205	0.09310	N	1	P	0.41420	0.749	P	0.48704	0.587	T	0.78414	-0.2213	9	0.54805	T	0.06	.	5.6114	0.17408	0.0:0.4835:0.0:0.5165	.	873	Q9UKX3	MYH13_HUMAN	H	873;548	ENSP00000252172:R873H	ENSP00000252172:R873H	R	-	2	0	MYH13	10171981	0.000000	0.05858	0.964000	0.40570	0.536000	0.34869	-0.118000	0.10692	0.474000	0.27392	0.563000	0.77884	CGC		0.537	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802	
DNAH9	1770	broad.mit.edu	37	17	11650999	11650999	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr17:11650999G>A	ENST00000262442.4	+	32	6594	c.6526G>A	c.(6526-6528)Gtc>Atc	p.V2176I	DNAH9_ENST00000454412.2_Missense_Mutation_p.V2176I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2176	AAA 2. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.V2176I(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACGGCGCCCCGTCTGGACTGA	0.527																																					p.V2176I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6526A	17						.						87.0	81.0	83.0					17																	11650999		2203	4300	6503	11591724	SO:0001583	missense	1770	exon32			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.6526G>A	17.37:g.11650999G>A	ENSP00000262442:p.Val2176Ile		11591724	NM_001372	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.447246	0.43429	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.39592	1.07;1.07	4.5	3.54	0.40534	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.154508	0.42682	N	0.000662	T	0.30230	0.0758	L	0.37897	1.145	0.80722	D	1	B	0.27791	0.189	B	0.24394	0.053	T	0.05886	-1.0858	10	0.16896	T	0.51	.	12.5573	0.56261	0.0805:0.0:0.9194:0.0	.	2176	Q9NYC9	DYH9_HUMAN	I	2176;2176;758	ENSP00000262442:V2176I;ENSP00000414874:V2176I	ENSP00000262442:V2176I	V	+	1	0	DNAH9	11591724	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	3.333000	0.52090	1.124000	0.41980	0.557000	0.71058	GTC		0.527	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	
ARHGAP44	9912	broad.mit.edu	37	17	12847496	12847496	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr17:12847496T>C	ENST00000379672.5	+	10	1144	c.844T>C	c.(844-846)Tgt>Cgt	p.C282R	ARHGAP44_ENST00000340825.3_Missense_Mutation_p.C282R|ARHGAP44_ENST00000262444.9_Missense_Mutation_p.C282R	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	282	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				exocytosis (GO:0006887)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endosome (GO:0005768)|leading edge membrane (GO:0031256)|synapse (GO:0045202)	GTPase activator activity (GO:0005096)|phospholipid binding (GO:0005543)	p.C282R(1)		NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						GCTGCTTGAGTGTGGGATGCA	0.622																																					p.C282R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T844C	17						.						62.0	73.0	69.0					17																	12847496		2145	4247	6392	12788221	SO:0001583	missense	9912	exon10				CCDS45616.1	17p12	2011-06-29			ENSG00000006740	ENSG00000006740		"""Rho GTPase activating proteins"""	29096	protein-coding gene	gene with protein product						19273615	Standard	NM_014859		Approved	KIAA0672, RICH-2, RICH2	uc002gnr.4	Q17R89	OTTHUMG00000058765	ENST00000379672.5:c.844T>C	17.37:g.12847496T>C	ENSP00000368994:p.Cys282Arg		12788221	NM_014859	A6NCP5|A8MQB2|O75160|Q7Z5Z7|Q9Y4Q4	Missense_Mutation	SNP	ENST00000379672.5	37	CCDS45616.1	.	.	.	.	.	.	.	.	.	.	T	12.10	1.835242	0.32421	.	.	ENSG00000006740	ENST00000379672;ENST00000340825;ENST00000538915	T;T	0.27720	1.65;1.65	5.57	5.57	0.84162	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.28499	0.0705	N	0.01493	-0.835	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.99	T	0.53851	-0.8380	10	0.51188	T	0.08	.	13.9692	0.64228	0.0:0.0:0.0:1.0	.	282;282	A6NCP5;Q17R89	.;RHG44_HUMAN	R	282;282;5	ENSP00000368994:C282R;ENSP00000342566:C282R	ENSP00000342566:C282R	C	+	1	0	ARHGAP44	12788221	1.000000	0.71417	0.991000	0.47740	0.955000	0.61496	4.075000	0.57584	2.244000	0.73946	0.533000	0.62120	TGT		0.622	ARHGAP44-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441566.1	NM_014859	
PMP22	5376	broad.mit.edu	37	17	15134356	15134356	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr17:15134356G>A	ENST00000395938.2	-	5	555	c.361C>T	c.(361-363)Cac>Tac	p.H121Y	PMP22_ENST00000395936.1_3'UTR|PMP22_ENST00000312280.3_Missense_Mutation_p.H121Y|PMP22_ENST00000494511.1_Missense_Mutation_p.A61V	NM_001281455.1|NM_153321.1	NP_001268384.1|NP_696996.1	Q01453	PMP22_HUMAN	peripheral myelin protein 22	121					cell death (GO:0008219)|peripheral nervous system development (GO:0007422)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.H121Y(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8				UCEC - Uterine corpus endometrioid carcinoma (92;0.0884)|BRCA - Breast invasive adenocarcinoma(8;4.92e-06)		CACTCCGGGTGCCTCACCGTG	0.617																																					p.H121Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C361T	17						.						62.0	54.0	57.0					17																	15134356		2203	4300	6503	15075081	SO:0001583	missense	5376	exon4			D11428	CCDS11168.1	17p12	2014-09-17			ENSG00000109099	ENSG00000109099			9118	protein-coding gene	gene with protein product		601097				8482547, 1497668	Standard	NM_001281456		Approved	HNPP, GAS-3, Sp110	uc002goj.3	Q01453	OTTHUMG00000058960	ENST00000395938.2:c.361C>T	17.37:g.15134356G>A	ENSP00000379269:p.His121Tyr		15075081	NM_153322	Q8WV01	Missense_Mutation	SNP	ENST00000395938.2	37	CCDS11168.1	.	.	.	.	.	.	.	.	.	.	G	1.369	-0.586724	0.03827	.	.	ENSG00000109099	ENST00000395938;ENST00000312280;ENST00000426385	D;D	0.88277	-2.36;-2.36	5.05	5.05	0.67936	.	0.137480	0.64402	D	0.000003	T	0.80894	0.4711	L	0.37630	1.12	0.80722	D	1	B	0.12630	0.006	B	0.12156	0.007	T	0.71849	-0.4468	10	0.02654	T	1	-39.2114	12.6128	0.56560	0.0804:0.0:0.9196:0.0	.	121	Q01453	PMP22_HUMAN	Y	121	ENSP00000379269:H121Y;ENSP00000308937:H121Y	ENSP00000308937:H121Y	H	-	1	0	PMP22	15075081	1.000000	0.71417	0.998000	0.56505	0.750000	0.42670	3.103000	0.50298	2.630000	0.89119	0.563000	0.77884	CAC		0.617	PMP22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130378.1	NM_000304	
MPRIP	23164	broad.mit.edu	37	17	17030020	17030020	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr17:17030020C>T	ENST00000341712.4	+	4	272	c.272C>T	c.(271-273)aCg>aTg	p.T91M	MPRIP_ENST00000395804.3_Missense_Mutation_p.T91M|MPRIP_ENST00000395811.5_Missense_Mutation_p.T91M|MPRIP_ENST00000444976.1_Missense_Mutation_p.T91M			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	91	Interaction with F-actin. {ECO:0000250}.|PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)		p.T91M(1)		biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						TTCCAGCCCACGACCCTTCCT	0.622																																					p.T91M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C272T	17						.						74.0	68.0	70.0					17																	17030020		2203	4300	6503	16970745	SO:0001583	missense	23164	exon4			BC014102	CCDS32578.1, CCDS42268.1	17p11.2	2013-01-10			ENSG00000133030	ENSG00000133030		"""Pleckstrin homology (PH) domain containing"""	30321	protein-coding gene	gene with protein product	"""Rho interacting protein 3"""	612935				10048485	Standard	NM_201274		Approved	RHOIP3, M-RIP, p116Rip	uc002gqy.2	Q6WCQ1	OTTHUMG00000059276	ENST00000341712.4:c.272C>T	17.37:g.17030020C>T	ENSP00000342379:p.Thr91Met		16970745	NM_015134	Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	Missense_Mutation	SNP	ENST00000341712.4	37	CCDS32578.1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.617103	0.66672	.	.	ENSG00000133030	ENST00000444976;ENST00000395811;ENST00000395804;ENST00000341712	D;D;D;D	0.93426	-3.22;-3.22;-3.22;-3.22	5.59	5.59	0.84812	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.	.	.	.	D	0.94056	0.8095	N	0.19112	0.55	0.50632	D	0.999885	D;D	0.89917	1.0;0.999	D;D	0.72625	0.966;0.978	D	0.94991	0.8134	9	0.66056	D	0.02	.	19.5945	0.95530	0.0:1.0:0.0:0.0	.	91;91	Q6WCQ1-2;Q6WCQ1	.;MPRIP_HUMAN	M	91	ENSP00000400189:T91M;ENSP00000379156:T91M;ENSP00000379149:T91M;ENSP00000342379:T91M	ENSP00000342379:T91M	T	+	2	0	MPRIP	16970745	1.000000	0.71417	0.986000	0.45419	0.661000	0.39034	3.998000	0.57024	2.642000	0.89623	0.561000	0.74099	ACG		0.622	MPRIP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131587.1	NM_015134	
LRRC48	83450	broad.mit.edu	37	17	17907713	17907713	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr17:17907713A>G	ENST00000399187.1	+	10	1254	c.1036A>G	c.(1036-1038)Aac>Gac	p.N346D	LRRC48_ENST00000584166.1_Missense_Mutation_p.N346D|LRRC48_ENST00000399182.1_Missense_Mutation_p.N346D|LRRC48_ENST00000313838.8_Missense_Mutation_p.N346D|LRRC48_ENST00000411504.2_Missense_Mutation_p.N346D	NM_031294.3	NP_112584.3	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	346						cytoplasm (GO:0005737)		p.N346D(1)		breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					GGAACTGCCCAACATTGAGAA	0.463																																					p.N346D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1036G	17						.						95.0	95.0	95.0					17																	17907713		2088	4237	6325	17848438	SO:0001583	missense	83450	exon10			AK093317	CCDS45622.1, CCDS45623.1	17p11.2	2014-07-18			ENSG00000171962	ENSG00000171962			25384	protein-coding gene	gene with protein product						11997338, 23354437	Standard	NM_001130090		Approved	DKFZP586M1120	uc021trk.1	Q9H069	OTTHUMG00000059355	ENST00000399187.1:c.1036A>G	17.37:g.17907713A>G	ENSP00000382140:p.Asn346Asp		17848438	NM_031294	A8KAE6|Q86SF9|Q86W73|Q8IWG0	Missense_Mutation	SNP	ENST00000399187.1	37	CCDS45622.1	.	.	.	.	.	.	.	.	.	.	A	0.441	-0.898558	0.02472	.	.	ENSG00000171962	ENST00000313838;ENST00000448396;ENST00000411504;ENST00000399184;ENST00000399187;ENST00000399182;ENST00000399185	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.02	0.957	0.19613	.	2.318620	0.01070	N	0.004810	T	0.18215	0.0437	N	0.08118	0	0.09310	N	1	B;B	0.19331	0.035;0.002	B;B	0.15870	0.014;0.008	T	0.29305	-1.0016	10	0.02654	T	1	-3.1041	0.9326	0.01338	0.4908:0.1789:0.1557:0.1746	.	346;346	Q9H069;Q9H069-2	LRC48_HUMAN;.	D	346	ENSP00000326870:N346D;ENSP00000394020:N346D;ENSP00000382140:N346D;ENSP00000382136:N346D	ENSP00000326870:N346D	N	+	1	0	LRRC48	17848438	0.000000	0.05858	0.002000	0.10522	0.031000	0.12232	-0.122000	0.10627	0.768000	0.33290	0.533000	0.62120	AAC		0.463	LRRC48-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131945.3	NM_031294	
ALDH3A1	218	broad.mit.edu	37	17	19644521	19644521	+	Missense_Mutation	SNP	C	C	T	rs145505711		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr17:19644521C>T	ENST00000457500.2	-	5	1021	c.692G>A	c.(691-693)cGc>cAc	p.R231H	ALDH3A1_ENST00000395555.3_Missense_Mutation_p.R231H|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.R231H|ALDH3A1_ENST00000494157.2_Missense_Mutation_p.R158H|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.R231H|RP11-311F12.2_ENST00000580884.1_RNA|ALDH3A1_ENST00000485231.1_5'Flank	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	231					aging (GO:0007568)|cellular aldehyde metabolic process (GO:0006081)|oxidation-reduction process (GO:0055114)|positive regulation of cell proliferation (GO:0008284)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|alcohol dehydrogenase (NADP+) activity (GO:0008106)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)	p.R231H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)		CCAGGCGATGCGTCTGTGAGA	0.547																																					p.R231H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G692A	17						.	C	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	79.0	72.0	74.0		692,692,692	5.4	1.0	17	dbSNP_134	74	5,8595	4.3+/-15.6	0,5,4295	no	missense,missense,missense	ALDH3A1	NM_000691.4,NM_001135167.1,NM_001135168.1	29,29,29	0,6,6497	TT,TC,CC		0.0581,0.0227,0.0461	probably-damaging,probably-damaging,probably-damaging	231/454,231/454,231/454	19644521	6,13000	2203	4300	6503	19585113	SO:0001583	missense	218	exon5			M74542	CCDS11212.1	17p11.2	2010-05-07	2010-05-07		ENSG00000108602	ENSG00000108602	1.2.1.5	"""Aldehyde dehydrogenases"""	405	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase, dimeric NADP-preferring"""	100660		ALDH3		7774944, 1737758	Standard	NM_000691		Approved		uc010cqu.3	P30838	OTTHUMG00000059469	ENST00000457500.2:c.692G>A	17.37:g.19644521C>T	ENSP00000411821:p.Arg231His		19585113	NM_001135168	A8K828|Q9BT37	Missense_Mutation	SNP	ENST00000457500.2	37	CCDS11212.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.599220	0.87055	2.27E-4	5.81E-4	ENSG00000108602	ENST00000225740;ENST00000395555;ENST00000379258;ENST00000444455;ENST00000457500;ENST00000457844;ENST00000439102	T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03	5.36	5.36	0.76844	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.050011	0.85682	N	0.000000	D	0.91626	0.7354	H	0.94264	3.515	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93755	0.7062	10	0.87932	D	0	0.9604	18.0827	0.89445	0.0:1.0:0.0:0.0	.	231;348;231	A8K828;Q8N9T9;P30838	.;.;AL3A1_HUMAN	H	231;231;289;231;231;158;231	ENSP00000225740:R231H;ENSP00000378923:R231H;ENSP00000388469:R231H;ENSP00000411821:R231H;ENSP00000389766:R231H	ENSP00000225740:R231H	R	-	2	0	ALDH3A1	19585113	1.000000	0.71417	0.995000	0.50966	0.483000	0.33249	7.272000	0.78516	2.533000	0.85409	0.655000	0.94253	CGC		0.547	ALDH3A1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132265.4	NM_000691	
TLCD1	116238	broad.mit.edu	37	17	27052357	27052357	+	Missense_Mutation	SNP	G	G	C	rs200322353		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr17:27052357G>C	ENST00000292090.3	-	3	435	c.325C>G	c.(325-327)Cga>Gga	p.R109G	AC010761.14_ENST00000587898.1_RNA|TLCD1_ENST00000394933.3_Missense_Mutation_p.R62G|SNORD4A_ENST00000459174.1_RNA|SNORD42A_ENST00000459584.1_RNA|AC010761.8_ENST00000582718.1_RNA|SNORD4B_ENST00000459083.1_RNA	NM_138463.3	NP_612472.1	Q96CP7	TLCD1_HUMAN	TLC domain containing 1	109	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|endometrium(1)|kidney(2)|lung(2)	7	Lung NSC(42;0.00431)					CAAGAGGCTCGCGTCTGTCCG	0.507																																					p.R62G												.	.	0			c.C184G	17						.																																			24076484	SO:0001583	missense	116238	exon3			BC014072	CCDS11242.1, CCDS54102.1	17q11.2	2007-03-23			ENSG00000160606	ENSG00000160606			25177	protein-coding gene	gene with protein product						12151215	Standard	NM_138463		Approved		uc002hco.3	Q96CP7	OTTHUMG00000132683	ENST00000292090.3:c.325C>G	17.37:g.27052357G>C	ENSP00000292090:p.Arg109Gly		24076484	NM_001160407	A8MYP9	Missense_Mutation	SNP	ENST00000292090.3	37	CCDS11242.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.513345	0.44660	.	.	ENSG00000160606	ENST00000292090;ENST00000394933	D;D	0.86694	-2.16;-2.16	5.62	-6.27	0.02026	TRAM/LAG1/CLN8 homology domain (3);	0.256113	0.34652	N	0.003797	D	0.86087	0.5849	L	0.53249	1.67	0.09310	N	0.999996	D;D	0.71674	0.998;0.971	P;P	0.59825	0.864;0.677	T	0.80551	-0.1332	10	0.25106	T	0.35	-4.2161	11.9767	0.53096	0.0:0.1965:0.202:0.6015	.	62;109	A8MYP9;Q96CP7	.;TLCD1_HUMAN	G	109;62	ENSP00000292090:R109G;ENSP00000378391:R62G	ENSP00000292090:R109G	R	-	1	2	TLCD1	24076484	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-0.131000	0.10482	-0.770000	0.04614	-0.277000	0.10078	CGA		0.507	TLCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255973.1	NM_138463	
MYO1D	4642	broad.mit.edu	37	17	31098207	31098207	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr17:31098207C>T	ENST00000318217.5	-	6	954	c.650G>A	c.(649-651)cGc>cAc	p.R217H	MYO1D_ENST00000394649.4_Missense_Mutation_p.R129H|MYO1D_ENST00000583621.1_Missense_Mutation_p.R217H|MYO1D_ENST00000579584.1_Missense_Mutation_p.R217H	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	217	Myosin motor.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.R217H(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			ATGTAGAGAGCGTAGCATTTG	0.358																																					p.R217H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G650A	17						.						115.0	115.0	115.0					17																	31098207		2203	4300	6503	28122320	SO:0001583	missense	4642	exon6			AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"""Myosins / Myosin superfamily : Class I"""	7598	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 108"""	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.650G>A	17.37:g.31098207C>T	ENSP00000324527:p.Arg217His		28122320	NM_015194	A6H8V3|Q8NHP9	Missense_Mutation	SNP	ENST00000318217.5	37	CCDS32615.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.711011	0.30322	.	.	ENSG00000176658	ENST00000318217	D	0.87491	-2.26	5.82	2.78	0.32641	Myosin head, motor domain (2);	0.180058	0.26586	N	0.023546	D	0.83243	0.5212	M	0.67953	2.075	0.47584	D	0.999465	B;B	0.26547	0.008;0.152	B;B	0.22386	0.011;0.039	T	0.76198	-0.3047	10	0.37606	T	0.19	.	9.1838	0.37158	0.0:0.7661:0.0:0.2339	.	128;217	Q7Z3N6;O94832	.;MYO1D_HUMAN	H	217	ENSP00000324527:R217H	ENSP00000324527:R217H	R	-	2	0	MYO1D	28122320	0.919000	0.31177	0.024000	0.17045	0.347000	0.29111	1.912000	0.39946	0.382000	0.24878	0.650000	0.86243	CGC		0.358	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1		
CCT6B	10693	broad.mit.edu	37	17	33266339	33266339	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr17:33266339T>C	ENST00000314144.5	-	10	1191	c.1076A>G	c.(1075-1077)aAg>aGg	p.K359R	CCT6B_ENST00000436961.3_Missense_Mutation_p.K314R|CCT6B_ENST00000421975.3_Missense_Mutation_p.K322R	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	359					chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	chaperonin-containing T-complex (GO:0005832)	ATP binding (GO:0005524)|protein transporter activity (GO:0008565)|unfolded protein binding (GO:0051082)	p.K359R(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				AAAAGTGAACTTTTCTTCACC	0.318																																					p.K322R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A965G	17						.						116.0	103.0	107.0					17																	33266339		2203	4300	6503	30290452	SO:0001583	missense	10693	exon9			D78333	CCDS32617.1, CCDS54105.1, CCDS54106.1	17q	2011-09-02			ENSG00000132141	ENSG00000132141		"""Heat Shock Proteins / Chaperonins"""	1621	protein-coding gene	gene with protein product		610730				8812458, 9013858	Standard	NM_006584		Approved	Cctz2, TSA303	uc002hig.3	Q92526		ENST00000314144.5:c.1076A>G	17.37:g.33266339T>C	ENSP00000327191:p.Lys359Arg		30290452	NM_001193529	B4DX20|B4DYB0|Q8TC34	Missense_Mutation	SNP	ENST00000314144.5	37	CCDS32617.1	.	.	.	.	.	.	.	.	.	.	T	11.96	1.793235	0.31685	.	.	ENSG00000132141	ENST00000421975;ENST00000314144;ENST00000436961	T;T;T	0.80123	-1.34;-1.34;-1.34	4.47	3.36	0.38483	.	0.000000	0.85682	D	0.000000	D	0.85423	0.5693	M	0.83774	2.66	0.58432	D	0.999997	B;P;P	0.49961	0.075;0.93;0.917	B;P;P	0.53988	0.33;0.739;0.643	D	0.84833	0.0803	10	0.56958	D	0.05	-11.9768	8.7232	0.34454	0.1702:0.0:0.0:0.8298	.	314;322;359	B4DYB0;B4DX20;Q92526	.;.;TCPW_HUMAN	R	322;359;314	ENSP00000398044:K322R;ENSP00000327191:K359R;ENSP00000400917:K314R	ENSP00000327191:K359R	K	-	2	0	CCT6B	30290452	1.000000	0.71417	1.000000	0.80357	0.011000	0.07611	7.022000	0.76431	0.824000	0.34613	-0.503000	0.04515	AAG		0.318	CCT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448014.1	NM_006584	
FNDC8	54752	broad.mit.edu	37	17	33456443	33456443	+	Silent	SNP	T	T	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr17:33456443T>A	ENST00000158009.5	+	3	703	c.588T>A	c.(586-588)atT>atA	p.I196I	NLE1_ENST00000586869.1_3'UTR	NM_017559.2	NP_060029.1	Q8TC99	FNDC8_HUMAN	fibronectin type III domain containing 8	196	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					nucleus (GO:0005634)		p.I196I(1)		breast(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	11		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.022)		TCCCCTAGATTTCCTGGACCT	0.582																																					p.I196I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T588A	17						.						78.0	82.0	81.0					17																	33456443		2203	4300	6503	30480556	SO:0001819	synonymous_variant	54752	exon3			BC024002	CCDS11290.1	17q12	2013-02-11			ENSG00000073598	ENSG00000073598		"""Fibronectin type III domain containing"""	25286	protein-coding gene	gene with protein product						12477932	Standard	XM_005257993		Approved	DKFZp434H2215	uc002hix.3	Q8TC99	OTTHUMG00000132932	ENST00000158009.5:c.588T>A	17.37:g.33456443T>A			30480556	NM_017559	B2R9G6|Q9UFC2	Silent	SNP	ENST00000158009.5	37	CCDS11290.1																																																																																				0.582	FNDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256459.2	NM_017559	
CCL15	6359	broad.mit.edu	37	17	34325339	34325339	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr17:34325339G>A	ENST00000354059.4	-	3	777	c.225C>T	c.(223-225)agC>agT	p.S75S	CCL14_ENST00000536149.1_5'UTR|CCL15-CCL14_ENST00000481427.2_Silent_p.S75S	NM_032965.4	NP_116741.1	Q16663	CCL15_HUMAN	chemokine (C-C motif) ligand 15	75					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|immune response (GO:0006955)|positive chemotaxis (GO:0050918)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemoattractant activity (GO:0042056)|chemokine activity (GO:0008009)|heparin binding (GO:0008201)|receptor binding (GO:0005102)	p.S75S(1)		large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGGAGCACTCGCTGCTCGTTT	0.522																																					p.S75S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C225T	17						.						94.0	75.0	82.0					17																	34325339		2203	4300	6503	31349452	SO:0001819	synonymous_variant	6359	exon3			AF031587	CCDS11304.1	17q11.2	2014-05-06	2002-08-22	2002-08-23	ENSG00000267596	ENSG00000275718		"""Chemokine ligands"", ""Endogenous ligands"""	10613	protein-coding gene	gene with protein product	"""leukotactin 1"", ""CC chemokine 3"", ""macrophage inflammatory protein 5"", ""chemokine CC-2"", ""MIP-1 delta"""	601393	"""small inducible cytokine subfamily A (Cys-Cys), member 15"""	SCYA15		8661057	Standard	NM_032965		Approved	HCC-2, NCC-3, SCYL3, MIP-5, Lkn-1, MIP-1d, HMRP-2B	uc010wcu.2	Q16663	OTTHUMG00000188406	ENST00000354059.4:c.225C>T	17.37:g.34325339G>A			31349452	NM_032965	B2RU34|E1P651|Q9UM74	Silent	SNP	ENST00000354059.4	37	CCDS11304.1	.	.	.	.	.	.	.	.	.	.	G	4.271	0.049426	0.08243	.	.	ENSG00000161574	ENST00000394506	.	.	.	4.55	-3.16	0.05217	.	.	.	.	.	T	0.27384	0.0672	.	.	.	0.09310	N	0.999994	.	.	.	.	.	.	T	0.32348	-0.9910	4	.	.	.	.	5.9012	0.18967	0.3544:0.0:0.4887:0.1568	.	.	.	.	V	23	.	.	A	-	2	0	CCL15	31349452	0.006000	0.16342	0.142000	0.22268	0.001000	0.01503	0.104000	0.15313	-0.529000	0.06358	-1.261000	0.01458	GCG		0.522	CCL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256584.2	NM_004167	
KRTAP4-12	83755	broad.mit.edu	37	17	39280114	39280114	+	Silent	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr17:39280114T>C	ENST00000394014.1	-	1	305	c.261A>G	c.(259-261)agA>agG	p.R87R		NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	keratin associated protein 4-12	87	31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].					keratin filament (GO:0045095)		p.R87R(3)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGCACTGGGGTCTGCAGCAGC	0.677																																					p.R87R												.	.	3	Substitution - coding silent(3)	large_intestine(1)|prostate(1)|endometrium(1)	c.A261G	17						.						25.0	35.0	31.0					17																	39280114		2091	4122	6213	36533640	SO:0001819	synonymous_variant	83755	exon1			AJ406943	CCDS32649.1	17q21.2	2013-06-25			ENSG00000213416	ENSG00000213416		"""Keratin associated proteins"""	16776	protein-coding gene	gene with protein product						11279113	Standard	NM_031854		Approved	KAP4.12	uc002hwa.3	Q9BQ66	OTTHUMG00000133632	ENST00000394014.1:c.261A>G	17.37:g.39280114T>C			36533640	NM_031854	A3KMC5|Q495I0	Silent	SNP	ENST00000394014.1	37	CCDS32649.1																																																																																				0.677	KRTAP4-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257777.1		
KRT31	3881	broad.mit.edu	37	17	39551564	39551564	+	Missense_Mutation	SNP	G	G	A	rs147688319		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr17:39551564G>A	ENST00000251645.2	-	5	861	c.809C>T	c.(808-810)gCg>gTg	p.A270V		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	270	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)	p.A270V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				GATGATCTCCGCCTGGTAGGA	0.592																																					p.A270V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C809T	17						.	G	VAL/ALA	0,4406		0,0,2203	129.0	117.0	122.0		809	5.4	0.9	17	dbSNP_134	122	2,8598	2.2+/-6.3	0,2,4298	no	missense	KRT31	NM_002277.2	64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	270/417	39551564	2,13004	2203	4300	6503	36805090	SO:0001583	missense	3881	exon5			X86570	CCDS11391.1	17q21.2	2014-05-20	2006-07-17	2006-07-17	ENSG00000094796	ENSG00000094796		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6448	protein-coding gene	gene with protein product	"""hard keratin type I 1"""	601077	"""keratin, hair, acidic, 1"""	KRTHA1		7578244, 16831889	Standard	NM_002277		Approved	Ha-1	uc002hwn.3	Q15323	OTTHUMG00000133423	ENST00000251645.2:c.809C>T	17.37:g.39551564G>A	ENSP00000251645:p.Ala270Val		36805090	NM_002277	Q9UE12	Missense_Mutation	SNP	ENST00000251645.2	37	CCDS11391.1	.	.	.	.	.	.	.	.	.	.	g	18.50	3.637352	0.67130	0.0	2.33E-4	ENSG00000094796	ENST00000251645	T	0.78003	-1.14	5.36	5.36	0.76844	Filament (1);	0.098275	0.45606	D	0.000354	T	0.74726	0.3754	L	0.39147	1.195	0.43007	D	0.994538	P	0.47106	0.89	B	0.43386	0.418	T	0.79100	-0.1942	10	0.72032	D	0.01	.	18.1561	0.89692	0.0:0.0:1.0:0.0	.	270	Q15323	K1H1_HUMAN	V	270	ENSP00000251645:A270V	ENSP00000251645:A270V	A	-	2	0	KRT31	36805090	0.027000	0.19231	0.931000	0.37212	0.729000	0.41735	2.051000	0.41307	2.512000	0.84698	0.558000	0.71614	GCG		0.592	KRT31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257286.1	NM_002277	
KRT17	3872	broad.mit.edu	37	17	39777910	39777910	+	Missense_Mutation	SNP	G	G	A	rs368091501		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr17:39777910G>A	ENST00000311208.8	-	4	836	c.769C>T	c.(769-771)Cgt>Tgt	p.R257C	JUP_ENST00000540235.1_Missense_Mutation_p.R416C	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	257	Coil 2.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinization (GO:0031424)|morphogenesis of an epithelium (GO:0002009)|positive regulation of cell growth (GO:0030307)|positive regulation of hair follicle development (GO:0051798)|positive regulation of translation (GO:0045727)|signal transduction (GO:0007165)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	MHC class II protein binding (GO:0042289)|MHC class II receptor activity (GO:0032395)|structural constituent of cytoskeleton (GO:0005200)	p.R257C(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				TACTGGTCACGCATCTCGTTG	0.592																																					p.R257C	Pancreas(92;1242 2086 39193 50508)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C769T	17						.						128.0	107.0	114.0					17																	39777910		2203	4300	6503	37031436	SO:0001583	missense	3872	exon4			X62571	CCDS11402.1	17q21.2	2014-06-12			ENSG00000128422	ENSG00000128422		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6427	protein-coding gene	gene with protein product		148069		PCHC1		7539673, 1281771, 16831889	Standard	NM_000422		Approved		uc002hxh.2	Q04695	OTTHUMG00000133505	ENST00000311208.8:c.769C>T	17.37:g.39777910G>A	ENSP00000308452:p.Arg257Cys		37031436	NM_000422	A5Z1M9|A5Z1N0|A5Z1N1|A5Z1N2|A6NDV6|A6NKQ2|Q6IP98|Q8N1P6	Missense_Mutation	SNP	ENST00000311208.8	37	CCDS11402.1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.531794	0.64972	.	.	ENSG00000128422;ENSG00000173801	ENST00000311208;ENST00000540235	D;D	0.93426	-3.22;-3.22	3.82	2.85	0.33270	Prefoldin (1);Filament (1);	0.000000	0.44688	D	0.000424	D	0.96818	0.8961	H	0.99379	4.54	0.42167	D	0.991624	P	0.45672	0.864	P	0.50136	0.632	D	0.95721	0.8766	10	0.87932	D	0	.	6.9958	0.24782	0.0895:0.0:0.7401:0.1703	.	257	Q04695	K1C17_HUMAN	C	257;416	ENSP00000308452:R257C;ENSP00000441751:R416C	ENSP00000441751:R416C	R	-	1	0	JUP;KRT17	37031436	0.989000	0.36119	0.979000	0.43373	0.859000	0.49053	0.148000	0.16224	0.960000	0.38005	0.655000	0.94253	CGT		0.592	KRT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257460.1	NM_000422	
DHX58	79132	broad.mit.edu	37	17	40257849	40257849	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr17:40257849A>G	ENST00000251642.3	-	9	1378	c.1156T>C	c.(1156-1158)Tgg>Cgg	p.W386R		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	386	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of innate immune response (GO:0045824)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of type I interferon production (GO:0032481)|regulation of innate immune response (GO:0045088)|response to virus (GO:0009615)|viral process (GO:0016032)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)	p.W386R(1)		breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGCTGGAGCCAGAGCAGGAGG	0.607																																					p.W386R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1156C	17						.						77.0	75.0	76.0					17																	40257849		2203	4300	6503	37511375	SO:0001583	missense	79132	exon9			BC014949	CCDS11416.1	17q21.2	2008-02-05			ENSG00000108771	ENSG00000108771			29517	protein-coding gene	gene with protein product	"""RNA helicase LGP2"""	608588				11735219	Standard	NM_024119		Approved	LGP2, D11LGP2	uc002hyw.3	Q96C10	OTTHUMG00000133493	ENST00000251642.3:c.1156T>C	17.37:g.40257849A>G	ENSP00000251642:p.Trp386Arg		37511375	NM_024119	Q9HAM6	Missense_Mutation	SNP	ENST00000251642.3	37	CCDS11416.1	.	.	.	.	.	.	.	.	.	.	A	19.89	3.910294	0.72983	.	.	ENSG00000108771	ENST00000251642;ENST00000423748	T	0.44482	0.92	5.17	5.17	0.71159	Helicase, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.51466	0.1676	L	0.28694	0.88	0.53688	D	0.999975	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.972	T	0.48906	-0.8993	10	0.36615	T	0.2	.	14.185	0.65601	1.0:0.0:0.0:0.0	.	379;386	B7Z455;Q96C10	.;DHX58_HUMAN	R	386;349	ENSP00000251642:W386R	ENSP00000251642:W386R	W	-	1	0	DHX58	37511375	1.000000	0.71417	1.000000	0.80357	0.685000	0.39939	8.246000	0.89828	1.962000	0.57031	0.374000	0.22700	TGG		0.607	DHX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257396.1	NM_024119	
ATP2A3	489	broad.mit.edu	37	17	3839751	3839751	+	Silent	SNP	C	C	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr17:3839751C>A	ENST00000352011.3	-	16	2388	c.2334G>T	c.(2332-2334)acG>acT	p.T778T	ATP2A3_ENST00000359983.3_Silent_p.T778T|ATP2A3_ENST00000397035.3_Silent_p.T778T|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397043.3_Silent_p.T778T|ATP2A3_ENST00000309890.7_Silent_p.T778T|ATP2A3_ENST00000397041.3_Silent_p.T778T			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	778					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.T778T(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CCAGAATTGCCGTGAGGAAGA	0.642																																					p.T778T	GBM(32;29 774 15719 37967)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2334T	17						.						68.0	68.0	68.0					17																	3839751		2203	4300	6503	3786500	SO:0001819	synonymous_variant	489	exon16				CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"""ATPases / P-type"""	813	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 3"", ""calcium pump 3"""	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.2334G>T	17.37:g.3839751C>A			3786500	NM_174955	A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Silent	SNP	ENST00000352011.3	37	CCDS11041.1																																																																																				0.642	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	NM_174953	
ATP2A3	489	broad.mit.edu	37	17	3844424	3844424	+	Silent	SNP	G	G	A	rs201078996		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr17:3844424G>A	ENST00000352011.3	-	14	1995	c.1941C>T	c.(1939-1941)gaC>gaT	p.D647D	ATP2A3_ENST00000359983.3_Silent_p.D647D|ATP2A3_ENST00000397035.3_Silent_p.D647D|ATP2A3_ENST00000397039.1_De_novo_Start_OutOfFrame|ATP2A3_ENST00000397043.3_Silent_p.D647D|ATP2A3_ENST00000309890.7_Silent_p.D647D|ATP2A3_ENST00000397041.3_Silent_p.D647D			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	647					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.D647D(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		TGCCCGCCACGTCTTCCGTGT	0.682													G|||	1	0.000199681	0.0	0.0	5008	,	,		14895	0.001		0.0	False		,,,				2504	0.0				p.D647D	GBM(32;29 774 15719 37967)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1941T	17						.						51.0	46.0	48.0					17																	3844424		2203	4300	6503	3791173	SO:0001819	synonymous_variant	489	exon14				CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"""ATPases / P-type"""	813	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 3"", ""calcium pump 3"""	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.1941C>T	17.37:g.3844424G>A			3791173	NM_174955	A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Silent	SNP	ENST00000352011.3	37	CCDS11041.1																																																																																				0.682	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	NM_174953	
PTRF	284119	broad.mit.edu	37	17	40556741	40556741	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr17:40556741C>T	ENST00000357037.5	-	2	1556	c.1137G>A	c.(1135-1137)tcG>tcA	p.S379S		NM_012232.5	NP_036364.2			polymerase I and transcript release factor									p.S379S(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		GCACGGCGTCCGACTCCTCGG	0.711																																					p.S379S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1137A	17						.						6.0	5.0	5.0					17																	40556741		1961	3834	5795	37810267	SO:0001819	synonymous_variant	284119	exon2			AF000421	CCDS11425.1	17q21.31	2011-04-20				ENSG00000177469			9688	protein-coding gene	gene with protein product		603198				9582279	Standard	NM_012232		Approved	cavin-1, CAVIN1	uc002hzo.3	Q6NZI2		ENST00000357037.5:c.1137G>A	17.37:g.40556741C>T			37810267	NM_012232		Silent	SNP	ENST00000357037.5	37	CCDS11425.1																																																																																				0.711	PTRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449938.1	NM_012232	
G6PC3	92579	broad.mit.edu	37	17	42152340	42152340	+	Silent	SNP	C	C	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr17:42152340C>A	ENST00000269097.4	+	4	651	c.420C>A	c.(418-420)cgC>cgA	p.R140R		NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN	glucose 6 phosphatase, catalytic, 3	140					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucose-6-phosphatase activity (GO:0004346)	p.R140R(1)		endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TTTCTAGCCGCTGGGTAAGGG	0.547																																					p.R140R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C420A	17						.						221.0	208.0	213.0					17																	42152340		2203	4300	6503	39507866	SO:0001819	synonymous_variant	92579	exon4			BC021574	CCDS11476.1	17q21.31	2014-09-17				ENSG00000141349			24861	protein-coding gene	gene with protein product		611045				12370122, 12965222	Standard	NM_138387		Approved	UGRP	uc002iex.3	Q9BUM1		ENST00000269097.4:c.420C>A	17.37:g.42152340C>A			39507866	NM_138387	Q8WU15	De_novo_Start_OutOfFrame	SNP	ENST00000269097.4	37	CCDS11476.1																																																																																				0.547	G6PC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457675.1	NM_138387	
HDAC5	10014	broad.mit.edu	37	17	42162495	42162495	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr17:42162495C>T	ENST00000393622.2	-	15	2410	c.2079G>A	c.(2077-2079)aaG>aaA	p.K693K	HDAC5_ENST00000336057.5_Intron|HDAC5_ENST00000586802.1_Silent_p.K693K|HDAC5_ENST00000225983.6_Silent_p.K694K	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	693	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|inflammatory response (GO:0006954)|multicellular organismal response to stress (GO:0033555)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression, epigenetic (GO:0040029)|regulation of myotube differentiation (GO:0010830)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|histone deacetylase complex (GO:0000118)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.K693K(1)		central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		TGCACTGGTGCTTTAGCATGA	0.602																																					p.K694K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2082A	17						.						88.0	67.0	74.0					17																	42162495		2203	4300	6503	39518021	SO:0001819	synonymous_variant	10014	exon15			AF249731	CCDS32663.1, CCDS45696.1	17q21	2008-07-18					3.5.1.98		14068	protein-coding gene	gene with protein product		605315				10220385, 9610721	Standard	XM_005256905		Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	Q9UQL6		ENST00000393622.2:c.2079G>A	17.37:g.42162495C>T			39518021	NM_001015053	C9JFV9|O60340|O60528|Q96DY4	Silent	SNP	ENST00000393622.2	37	CCDS45696.1																																																																																				0.602	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457686.1	NM_001015053	
UBTF	7343	broad.mit.edu	37	17	42294054	42294054	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr17:42294054T>C	ENST00000302904.4	-	3	569	c.77A>G	c.(76-78)gAc>gGc	p.D26G	UBTF_ENST00000529383.1_Missense_Mutation_p.D26G|UBTF_ENST00000537550.1_5'UTR|UBTF_ENST00000343638.5_Missense_Mutation_p.D26G|UBTF_ENST00000393606.3_Missense_Mutation_p.D26G|UBTF_ENST00000527034.1_Missense_Mutation_p.D26G|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000526094.1_Missense_Mutation_p.D26G|UBTF_ENST00000436088.1_Missense_Mutation_p.D26G|UBTF_ENST00000533177.1_Missense_Mutation_p.D26G			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	26					chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.D26G(1)		breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		AGTCAGCATGTCTTCCTGGGA	0.493																																					p.D26G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A77G	17						.						153.0	137.0	143.0					17																	42294054		2203	4300	6503	39649580	SO:0001583	missense	7343	exon3			BC042297	CCDS11480.1, CCDS42346.1	17q21.31	2014-03-25			ENSG00000108312	ENSG00000108312			12511	protein-coding gene	gene with protein product		600673				9126496	Standard	NM_001076683		Approved	UBF, NOR-90, UBF1, UBF2	uc010czs.3	P17480	OTTHUMG00000167585	ENST00000302904.4:c.77A>G	17.37:g.42294054T>C	ENSP00000302640:p.Asp26Gly		39649580	NM_001076683	A8K6R8	Missense_Mutation	SNP	ENST00000302904.4	37	CCDS11480.1	.	.	.	.	.	.	.	.	.	.	t	24.0	4.487087	0.84854	.	.	ENSG00000108312	ENST00000343638;ENST00000302904;ENST00000527034;ENST00000533177;ENST00000436088;ENST00000393606;ENST00000526094;ENST00000529383;ENST00000530828	D;D;D;D;D;D;D;D;T	0.99023	-5.23;-4.43;-5.34;-5.23;-4.43;-5.23;-5.23;-4.43;0.35	3.84	3.84	0.44239	.	0.000000	0.85682	D	0.000000	D	0.98909	0.9630	M	0.69358	2.11	0.58432	D	0.999995	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.68483	0.941;0.945;0.958	D	0.99320	1.0906	10	0.87932	D	0	-28.4226	12.8202	0.57688	0.0:0.0:0.0:1.0	.	26;26;26	E9PKP7;P17480-2;P17480	.;.;UBF1_HUMAN	G	26	ENSP00000345297:D26G;ENSP00000302640:D26G;ENSP00000431539:D26G;ENSP00000437180:D26G;ENSP00000390669:D26G;ENSP00000377231:D26G;ENSP00000432925:D26G;ENSP00000435708:D26G;ENSP00000433046:D26G	ENSP00000302640:D26G	D	-	2	0	UBTF	39649580	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.804000	0.85993	1.762000	0.52044	0.454000	0.30748	GAC		0.493	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395205.1	NM_014233	
GPATCH8	23131	broad.mit.edu	37	17	42476546	42476546	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr17:42476546G>A	ENST00000591680.1	-	8	2929	c.2899C>T	c.(2899-2901)Cgt>Tgt	p.R967C	GPATCH8_ENST00000434000.1_Missense_Mutation_p.R889C	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	967	Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R967C(1)		breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CTTCGACTACGACTACAACTG	0.632																																					p.R967C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2899T	17						.						43.0	43.0	43.0					17																	42476546		2203	4300	6503	39832072	SO:0001583	missense	23131	exon8			AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.2899C>T	17.37:g.42476546G>A	ENSP00000467556:p.Arg967Cys		39832072	NM_001002909	B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	ENST00000591680.1	37	CCDS32666.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.796328	0.50208	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.15603	2.41	5.2	5.2	0.72013	.	0.113901	0.64402	D	0.000007	T	0.26304	0.0642	L	0.27053	0.805	0.53688	D	0.999976	D	0.89917	1.0	P	0.60609	0.877	T	0.00893	-1.1524	10	0.59425	D	0.04	-9.647	15.3471	0.74346	0.0:0.0:0.8603:0.1397	.	967	Q9UKJ3	GPTC8_HUMAN	C	967;889	ENSP00000395016:R889C	ENSP00000335486:R967C	R	-	1	0	GPATCH8	39832072	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.969000	0.76092	2.712000	0.92718	0.555000	0.69702	CGT		0.632	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909	
ANKFY1	51479	broad.mit.edu	37	17	4111303	4111303	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr17:4111303C>T	ENST00000341657.4	-	6	692	c.657G>A	c.(655-657)gaG>gaA	p.E219E	ANKFY1_ENST00000433651.1_Silent_p.E219E|ANKFY1_ENST00000570535.1_Silent_p.E261E|ANKFY1_ENST00000574367.1_Silent_p.E219E	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	219					endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)	p.E219E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GTAGCGGGTACTCTGTCTTGG	0.443																																					p.E219E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G657A	17						.						191.0	181.0	185.0					17																	4111303		1925	4145	6070	4058052	SO:0001819	synonymous_variant	51479	exon6			AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"""Zinc fingers, FYVE domain containing"", ""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.657G>A	17.37:g.4111303C>T			4058052	NM_020740	A8KA65|Q5RKV4|Q9ULG5	Silent	SNP	ENST00000341657.4	37																																																																																					0.443	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000438702.1	NM_016376	
FZD2	2535	broad.mit.edu	37	17	42636589	42636589	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr17:42636589G>A	ENST00000315323.3	+	1	1665	c.1533G>A	c.(1531-1533)acG>acA	p.T511T		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	511					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cell-cell signaling (GO:0007267)|cochlea morphogenesis (GO:0090103)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|inner ear receptor cell development (GO:0060119)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|sensory perception of smell (GO:0007608)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.T511T(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CGCACTACACGCCGCGCATGT	0.627																																					p.T511T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1533A	17						.						42.0	39.0	40.0					17																	42636589		2203	4300	6503	39992115	SO:0001819	synonymous_variant	2535	exon1			L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340		"""GPCR / Class F : Frizzled receptors"""	4040	protein-coding gene	gene with protein product		600667	"""frizzled (Drosophila) homolog 2"", ""frizzled homolog 2 (Drosophila)"", ""frizzled 2, seven transmembrane spanning receptor"", ""frizzled family receptor 2"""			7558010, 9813155	Standard	NM_001466		Approved		uc002igx.2	Q14332		ENST00000315323.3:c.1533G>A	17.37:g.42636589G>A			39992115	NM_001466	Q0VG82	Silent	SNP	ENST00000315323.3	37	CCDS11484.1																																																																																				0.627	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457806.1	NM_001466	
MAP3K14-AS1	100133991	broad.mit.edu	37	17	43347831	43347831	+	RNA	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr17:43347831G>A	ENST00000585780.1	+	0	4950				MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000586450.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA|MAP3K14_ENST00000344686.2_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA					MAP3K14 antisense RNA 1									p.R641C(1)									GCAGACACGCGGTGGATGGGC	0.662																																					p.T640T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1920T	17						.						38.0	43.0	42.0					17																	43347831		2004	4159	6163	40703614			9020	exon11			AK311429, BC031942		17q21.31	2014-06-16			ENSG00000267278	ENSG00000267278		"""Long non-coding RNAs"""	44359	non-coding RNA	RNA, long non-coding							Standard	NR_024435		Approved		uc002iit.4		OTTHUMG00000180362		17.37:g.43347831G>A			40703614	NM_003954		Missense_Mutation	SNP	ENST00000585780.1	37		.	.	.	.	.	.	.	.	.	.	G	19.59	3.855710	0.71834	.	.	ENSG00000006062	ENST00000344686	.	.	.	5.53	3.35	0.38373	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.83069	0.5174	H	0.95004	3.61	0.45762	D	0.998652	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.89626	0.3852	8	0.87932	D	0	.	12.1901	0.54266	0.0:0.0:0.628:0.372	.	641;171	Q99558;Q6ZMZ1	M3K14_HUMAN;.	C	640	.	ENSP00000342059:R640C	R	-	1	0	MAP3K14	40703614	0.967000	0.33354	0.897000	0.35233	0.015000	0.08874	1.408000	0.34668	1.248000	0.43934	0.561000	0.74099	CGC		0.662	MAP3K14-AS1-008	KNOWN	basic	antisense	antisense	OTTHUMT00000450941.1	NR_024434	
CDC27	996	broad.mit.edu	37	17	45249352	45249352	+	Nonsense_Mutation	SNP	A	A	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr17:45249352A>T	ENST00000066544.3	-	3	275	c.182T>A	c.(181-183)tTg>tAg	p.L61*	CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000446365.2_Intron|RP5-867C24.5_ENST00000572193.1_RNA|CDC27_ENST00000531206.1_Nonsense_Mutation_p.L61*|CDC27_ENST00000527547.1_Nonsense_Mutation_p.L61*	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	61					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)	p.L61*(2)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						GTGTCCTTTCAAGAGTCTATA	0.348																																					p.L61X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.T182A	17						.						42.0	41.0	41.0					17																	45249352		2202	4300	6502	42604351	SO:0001587	stop_gained	996	exon3			U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.182T>A	17.37:g.45249352A>T	ENSP00000066544:p.Leu61*		42604351	NM_001114091	G3V1C4|Q16349|Q96F35	Nonsense_Mutation	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	A	38	6.686188	0.97764	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000527547;ENST00000526866	.	.	.	5.69	5.69	0.88448	.	0.223506	0.39020	N	0.001489	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.6806	13.8831	0.63693	1.0:0.0:0.0:0.0	.	.	.	.	X	61	.	ENSP00000066544:L61X	L	-	2	0	CDC27	42604351	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.057000	0.93889	2.173000	0.68751	0.482000	0.46254	TTG		0.348	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2		
SCRN2	90507	broad.mit.edu	37	17	45915245	45915245	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr17:45915245C>T	ENST00000290216.9	-	8	1368	c.1243G>A	c.(1243-1245)Gcc>Acc	p.A415T	SCRN2_ENST00000584123.1_Missense_Mutation_p.A423T|SCRN2_ENST00000407215.3_3'UTR	NM_001145023.1|NM_138355.3	NP_001138495.1|NP_612364.2	Q96FV2	SCRN2_HUMAN	secernin 2	415						extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)	p.A415T(1)		cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						TTCACGAAGGCCTGGAAGAGG	0.662																																					p.A415T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1243A	17						.						25.0	27.0	26.0					17																	45915245		2202	4300	6502	43270244	SO:0001583	missense	90507	exon8			BC002980	CCDS11519.1, CCDS45723.1	17q21	2008-02-05							30381	protein-coding gene	gene with protein product		614966				12221138	Standard	NM_001145023		Approved		uc002imd.3	Q96FV2		ENST00000290216.9:c.1243G>A	17.37:g.45915245C>T	ENSP00000290216:p.Ala415Thr		43270244	NM_138355	A8K3N1|B7Z8S7|E9PBV5|Q96AC3|Q9BU04	Missense_Mutation	SNP	ENST00000290216.9	37	CCDS11519.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.155348	0.38021	.	.	ENSG00000141295	ENST00000290216	T	0.06768	3.26	5.72	1.12	0.20585	.	0.750092	0.13330	N	0.395981	T	0.08537	0.0212	L	0.54323	1.7	0.27305	N	0.957463	B	0.02656	0.0	B	0.04013	0.001	T	0.31081	-0.9956	10	0.26408	T	0.33	-5.827	8.4668	0.32960	0.0:0.5403:0.0:0.4597	.	415	Q96FV2	SCRN2_HUMAN	T	415	ENSP00000290216:A415T	ENSP00000290216:A415T	A	-	1	0	SCRN2	43270244	0.995000	0.38212	1.000000	0.80357	0.848000	0.48234	0.336000	0.19823	0.219000	0.20840	-0.345000	0.07892	GCC		0.662	SCRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441383.1	NM_138355	
NFE2L1	4779	broad.mit.edu	37	17	46136395	46136395	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr17:46136395G>A	ENST00000362042.3	+	6	2327	c.1711G>A	c.(1711-1713)Gtg>Atg	p.V571M	NFE2L1_ENST00000361665.3_Missense_Mutation_p.V560M|NFE2L1_ENST00000536222.1_Missense_Mutation_p.V415M|NFE2L1_ENST00000583378.1_Missense_Mutation_p.V372M|NFE2L1_ENST00000357480.5_Missense_Mutation_p.V541M|RP5-890E16.4_ENST00000583349.1_RNA|NFE2L1_ENST00000585291.1_Missense_Mutation_p.V541M|NFE2L1_ENST00000582155.1_Missense_Mutation_p.V383M	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	571					anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)	p.V571M(1)		cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCTGGAGCACGTGGGCCACAA	0.612																																					p.V571M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1711A	17						.						79.0	64.0	69.0					17																	46136395		2203	4300	6503	43491394	SO:0001583	missense	4779	exon6			AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641		"""basic leucine zipper proteins"""	7781	protein-coding gene	gene with protein product		163260	"""nuclear factor (erythroid-derived 2)-like 1"""	TCF11		8248256, 9501099	Standard	NM_003204		Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000362042.3:c.1711G>A	17.37:g.46136395G>A	ENSP00000354855:p.Val571Met		43491394	NM_003204	D3DTU3|D3DTU5|Q12877|Q96FN6	Missense_Mutation	SNP	ENST00000362042.3	37	CCDS11524.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.839418	0.51057	.	.	ENSG00000082641	ENST00000362042;ENST00000361665;ENST00000357480;ENST00000536222	T;T	0.11930	2.73;2.73	5.79	4.82	0.62117	.	0.107987	0.64402	N	0.000006	T	0.35393	0.0930	M	0.76170	2.325	0.58432	D	0.999995	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;P;D;P	0.65443	0.935;0.862;0.935;0.907	T	0.15492	-1.0435	10	0.66056	D	0.02	-44.5377	13.5385	0.61659	0.076:0.0:0.924:0.0	.	415;383;541;571	F5H1B7;B4DYE1;Q14494-2;Q14494	.;.;.;NF2L1_HUMAN	M	590;571;541;415	ENSP00000350072:V541M;ENSP00000445811:V415M	ENSP00000350072:V541M	V	+	1	0	NFE2L1	43491394	1.000000	0.71417	0.960000	0.40013	0.990000	0.78478	6.429000	0.73387	1.455000	0.47813	0.563000	0.77884	GTG		0.612	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443019.1	NM_003204	
COL1A1	1277	broad.mit.edu	37	17	48276945	48276945	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr17:48276945G>T	ENST00000225964.5	-	3	423	c.305C>A	c.(304-306)cCc>cAc	p.P102H		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	102					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.P102H(1)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	TTGGTCGGTGGGTGACTCTAG	0.632			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																														p.P102H			Dom	yes		17	17q21.31-q22	1277	"""collagen, type I, alpha 1"""	yes	M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C305A	17						.						126.0	146.0	139.0					17																	48276945		2203	4300	6503	45631944	SO:0001583	missense	1277	exon3			Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.305C>A	17.37:g.48276945G>T	ENSP00000225964:p.Pro102His		45631944	NM_000088	O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Missense_Mutation	SNP	ENST00000225964.5	37	CCDS11561.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.662533	0.47572	.	.	ENSG00000108821	ENST00000225964	D	0.90069	-2.61	4.47	4.47	0.54385	.	0.086491	0.46442	D	0.000281	D	0.89206	0.6649	M	0.87269	2.87	0.09310	N	1	B	0.32693	0.38	B	0.30179	0.112	T	0.81560	-0.0877	10	0.29301	T	0.29	.	14.6452	0.68756	0.0:0.0:1.0:0.0	.	102	P02452	CO1A1_HUMAN	H	102	ENSP00000225964:P102H	ENSP00000225964:P102H	P	-	2	0	COL1A1	45631944	0.559000	0.26562	0.009000	0.14445	0.025000	0.11179	2.016000	0.40971	2.038000	0.60285	0.455000	0.32223	CCC		0.632	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2		
ABCC3	8714	broad.mit.edu	37	17	48734178	48734178	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr17:48734178G>T	ENST00000285238.8	+	3	418	c.338G>T	c.(337-339)gGg>gTg	p.G113V	ABCC3_ENST00000427699.1_Missense_Mutation_p.G113V	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	113					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)	p.G113V(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	TTGGTGGTGGGGGTCACCATG	0.612																																					p.G113V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G338T	17						.						45.0	47.0	46.0					17																	48734178		2203	4300	6503	46089177	SO:0001583	missense	8714	exon3			Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.338G>T	17.37:g.48734178G>T	ENSP00000285238:p.Gly113Val		46089177	NM_001144070	B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	ENST00000285238.8	37	CCDS32681.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.280080	0.80692	.	.	ENSG00000108846	ENST00000427699;ENST00000285238	T;T	0.40225	1.04;1.04	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.69070	0.3070	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.76575	0.988;0.984	T	0.68569	-0.5374	10	0.29301	T	0.29	-30.6701	18.2253	0.89915	0.0:0.0:1.0:0.0	.	113;113	O15438;O15438-5	MRP3_HUMAN;.	V	113	ENSP00000395160:G113V;ENSP00000285238:G113V	ENSP00000285238:G113V	G	+	2	0	ABCC3	46089177	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	9.158000	0.94723	2.595000	0.87683	0.591000	0.81541	GGG		0.612	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038	
DHX33	56919	broad.mit.edu	37	17	5364367	5364367	+	Silent	SNP	G	G	A	rs34666901	byFrequency	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr17:5364367G>A	ENST00000225296.3	-	4	941	c.741C>T	c.(739-741)ccC>ccT	p.P247P	DHX33_ENST00000433302.3_Intron	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	247	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				positive regulation of transcription from RNA polymerase I promoter (GO:0045943)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|rDNA binding (GO:0000182)	p.P247P(1)		breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GGTAGAGGACGGGGGCGCCAT	0.512																																					p.P247P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C741T	17						.						135.0	127.0	130.0					17																	5364367		2203	4300	6503	5305091	SO:0001819	synonymous_variant	56919	exon4			AL359945	CCDS11072.1	17p13	2003-06-13	2003-06-13	2003-06-13	ENSG00000005100	ENSG00000005100		"""DEAH-boxes"""	16718	protein-coding gene	gene with protein product		614405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 33"""	DDX33			Standard	NM_020162		Approved	FLJ21972, DKFZp762F2011	uc002gca.3	Q9H6R0	OTTHUMG00000102041	ENST00000225296.3:c.741C>T	17.37:g.5364367G>A			5305091	NM_020162	B4DHF9|Q4G149|Q5CZ73|Q9H5M9	Silent	SNP	ENST00000225296.3	37	CCDS11072.1																																																																																				0.512	DHX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219826.2	NM_020162	
ANKRD40	91369	broad.mit.edu	37	17	48777241	48777241	+	Missense_Mutation	SNP	A	A	T	rs145395652		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr17:48777241A>T	ENST00000285243.6	-	3	566	c.297T>A	c.(295-297)gaT>gaA	p.D99E		NM_052855.3	NP_443087.1	Q6AI12	ANR40_HUMAN	ankyrin repeat domain 40	99	Poly-Asp.							p.D99E(3)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11			BRCA - Breast invasive adenocarcinoma(22;2.03e-09)			catcatcatcatcTTCTTCTT	0.398																																					p.D99E												.	.	3	Substitution - Missense(3)	large_intestine(1)|breast(1)|endometrium(1)	c.T297A	17						.	A	GLU/ASP	0,4406		0,0,2203	30.0	27.0	28.0		297		0.4	17	dbSNP_134	28	5,8595	3.7+/-12.6	0,5,4295	yes	missense	ANKRD40	NM_052855.3	45	0,5,6498	TT,TA,AA		0.0581,0.0,0.0384	possibly-damaging	99/369	48777241	5,13001	2203	4300	6503	46132240	SO:0001583	missense	91369	exon3			BC012978	CCDS11572.1	17q21.33	2013-01-10			ENSG00000154945	ENSG00000154945		"""Ankyrin repeat domain containing"""	28233	protein-coding gene	gene with protein product						12477932	Standard	NM_052855		Approved	MGC15396	uc002iso.3	Q6AI12	OTTHUMG00000162255	ENST00000285243.6:c.297T>A	17.37:g.48777241A>T	ENSP00000285243:p.Asp99Glu		46132240	NM_052855	Q96E32	Missense_Mutation	SNP	ENST00000285243.6	37	CCDS11572.1	.	.	.	.	.	.	.	.	.	.	a	2.979	-0.210738	0.06140	0.0	5.81E-4	ENSG00000154945	ENST00000285243	T	0.21361	2.01	.	.	.	Ankyrin repeat-containing domain (1);	2587.460000	0.00610	N	0.000407	T	0.14184	0.0343	L	0.36672	1.1	0.09310	N	0.999999	B	0.20671	0.047	B	0.09377	0.004	T	0.16600	-1.0397	8	0.06236	T	0.91	.	.	.	.	rs17358273	99	Q6AI12	ANR40_HUMAN	E	99	ENSP00000285243:D99E	ENSP00000285243:D99E	D	-	3	2	ANKRD40	46132240	0.009000	0.17119	0.400000	0.26346	0.911000	0.54048	-0.523000	0.06230	0.056000	0.16144	0.055000	0.15244	GAT		0.398	ANKRD40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368201.2	NM_052855	
HSF5	124535	broad.mit.edu	37	17	56540537	56540537	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr17:56540537T>C	ENST00000323777.3	-	4	1257	c.1148A>G	c.(1147-1149)cAt>cGt	p.H383R		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	383					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H383R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGGGGAGGAATGCAACTCATC	0.423																																					p.H383R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1148G	17						.						104.0	99.0	101.0					17																	56540537		2203	4300	6503	53895536	SO:0001583	missense	124535	exon4			BC033020	CCDS32690.1	17q23.2	2006-04-25				ENSG00000176160			26862	protein-coding gene	gene with protein product							Standard	NM_001080439		Approved	FLJ40311	uc002iwi.1	Q4G112		ENST00000323777.3:c.1148A>G	17.37:g.56540537T>C	ENSP00000313243:p.His383Arg		53895536	NM_001080439	Q08EH7|Q8N7V2	Missense_Mutation	SNP	ENST00000323777.3	37	CCDS32690.1	.	.	.	.	.	.	.	.	.	.	T	9.391	1.075519	0.20227	.	.	ENSG00000176160	ENST00000412540;ENST00000323777	T	0.28895	1.59	5.47	4.4	0.53042	.	0.095606	0.46442	D	0.000300	T	0.16171	0.0389	N	0.14661	0.345	0.27163	N	0.961119	B	0.02656	0.0	B	0.04013	0.001	T	0.15983	-1.0418	10	0.27785	T	0.31	.	7.1729	0.25728	0.0:0.1746:0.0:0.8254	.	383	Q4G112	HSF5_HUMAN	R	283;383	ENSP00000313243:H383R	ENSP00000313243:H383R	H	-	2	0	HSF5	53895536	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.285000	0.33261	0.914000	0.36822	0.528000	0.53228	CAT		0.423	HSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444719.1	XM_064190	
RGS9	8787	broad.mit.edu	37	17	63221358	63221358	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr17:63221358G>A	ENST00000262406.9	+	18	1713	c.1646G>A	c.(1645-1647)cGt>cAt	p.R549H	RGS9_ENST00000449996.3_Missense_Mutation_p.R546H|RGS9_ENST00000443584.3_Missense_Mutation_p.R546H	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	549				GSMAPR -> WSGANP (in Ref. 7; AAC25430). {ECO:0000305}.	dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.R549H(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						ATGGCCCCCCGTGGGCCCTCT	0.687																																					p.R549H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1646A	17						.						69.0	77.0	74.0					17																	63221358		1962	4146	6108	60651820	SO:0001583	missense	8787	exon18			AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"""Regulators of G-protein signaling"""	10004	protein-coding gene	gene with protein product	"""regulator of G protein signalling 9"", ""regulator of G protein signalling 9L"", ""regulator of G-protein signaling 9L"""	604067	"""regulator of G-protein signalling 9"""			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.1646G>A	17.37:g.63221358G>A	ENSP00000262406:p.Arg549His		60651820	NM_003835	A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Missense_Mutation	SNP	ENST00000262406.9	37	CCDS42373.1	.	.	.	.	.	.	.	.	.	.	G	6.264	0.416822	0.11870	.	.	ENSG00000108370	ENST00000262406;ENST00000449996	T;T	0.30182	1.54;1.54	4.07	-8.14	0.01069	.	2.627630	0.00888	N	0.002210	T	0.10895	0.0266	N	0.08118	0	0.09310	N	1	B;P;P	0.43094	0.0;0.474;0.799	B;B;B	0.33890	0.0;0.058;0.172	T	0.33599	-0.9862	10	0.62326	D	0.03	.	2.45	0.04516	0.4149:0.3112:0.1019:0.172	.	549;549;546	A8K1G1;O75916;O75916-5	.;RGS9_HUMAN;.	H	549;546	ENSP00000262406:R549H;ENSP00000396329:R546H	ENSP00000262406:R549H	R	+	2	0	RGS9	60651820	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-1.804000	0.01738	-1.628000	0.01548	-0.339000	0.08088	CGT		0.687	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445885.1	NM_003835	
WIPI1	55062	broad.mit.edu	37	17	66446978	66446978	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr17:66446978A>T	ENST00000262139.5	-	3	223	c.224T>A	c.(223-225)gTc>gAc	p.V75D	WIPI1_ENST00000546360.1_5'UTR|WIPI1_ENST00000589459.1_5'UTR	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	75					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|autophagy (GO:0006914)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|vesicle targeting, trans-Golgi to endosome (GO:0048203)	autophagic vacuole membrane (GO:0000421)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|trans-Golgi network (GO:0005802)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|receptor binding (GO:0005102)	p.V75D(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						TGTGTGACTGACTACCACCAC	0.502																																					p.V75D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T224A	17						.						178.0	148.0	158.0					17																	66446978		2203	4300	6503	63958573	SO:0001583	missense	55062	exon3				CCDS11677.1	17q24.2	2014-02-12				ENSG00000070540		"""WD repeat domain containing"""	25471	protein-coding gene	gene with protein product		609224				15020712, 15602573	Standard	NM_017983		Approved	FLJ10055, WIPI49, Atg18, ATG18A	uc010dey.3	Q5MNZ9		ENST00000262139.5:c.224T>A	17.37:g.66446978A>T	ENSP00000262139:p.Val75Asp		63958573	NM_017983	Q8IXM5|Q9NWF8	Missense_Mutation	SNP	ENST00000262139.5	37	CCDS11677.1	.	.	.	.	.	.	.	.	.	.	A	17.69	3.451174	0.63290	.	.	ENSG00000070540	ENST00000262139	T	0.54675	0.56	5.89	4.81	0.61882	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.78078	0.4227	M	0.93978	3.48	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.82460	-0.0446	10	0.87932	D	0	-28.0908	11.6585	0.51332	0.9311:0.0:0.0689:0.0	.	75	Q5MNZ9	WIPI1_HUMAN	D	75	ENSP00000262139:V75D	ENSP00000262139:V75D	V	-	2	0	WIPI1	63958573	1.000000	0.71417	0.972000	0.41901	0.303000	0.27691	8.765000	0.91724	1.066000	0.40716	0.460000	0.39030	GTC		0.502	WIPI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448739.1	NM_017983	
MAP2K6	5608	broad.mit.edu	37	17	67522794	67522794	+	Silent	SNP	G	G	A	rs367955676		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr17:67522794G>A	ENST00000590474.1	+	10	1112	c.825G>A	c.(823-825)tcG>tcA	p.S275S	MAP2K6_ENST00000589647.1_Silent_p.S219S	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	275	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cell cycle arrest (GO:0007050)|cellular response to sorbitol (GO:0072709)|DNA damage induced protein phosphorylation (GO:0006975)|innate immune response (GO:0045087)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to ischemia (GO:0002931)|signal transduction (GO:0007165)|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, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.S275S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					AGGAGCCATCGCCACAACTCC	0.473																																					p.S275S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G825A	17						.	G		1,4405	2.1+/-5.4	0,1,2202	95.0	86.0	89.0		825	-12.3	0.0	17		89	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MAP2K6	NM_002758.3		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		275/335	67522794	2,13004	2203	4300	6503	65034389	SO:0001819	synonymous_variant	5608	exon10			U39064	CCDS11686.1	17q	2011-06-09						"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6846	protein-coding gene	gene with protein product	"""protein kinase, mitogen-activated, kinase 6 (MAP kinase kinase 6)"""	601254		PRKMK6		8621675	Standard	XM_005257515		Approved	MEK6, MKK6, SAPKK3, MAPKK6	uc002jij.3	P52564		ENST00000590474.1:c.825G>A	17.37:g.67522794G>A			65034389	NM_002758		Silent	SNP	ENST00000590474.1	37	CCDS11686.1																																																																																				0.473	MAP2K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450689.1	NM_002758	
TTYH2	94015	broad.mit.edu	37	17	72245198	72245198	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr17:72245198A>T	ENST00000269346.4	+	7	927	c.853A>T	c.(853-855)Acg>Tcg	p.T285S	TTYH2_ENST00000534346.1_3'UTR|TTYH2_ENST00000529107.1_Missense_Mutation_p.T264S|TTYH2_ENST00000441391.2_De_novo_Start_InFrame	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	285						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)	p.T285S(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						CCTGAACGTCACGGAGGGCCA	0.572																																					p.T285S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A853T	17						.						150.0	117.0	128.0					17																	72245198		2203	4300	6503	69756793	SO:0001583	missense	94015	exon7				CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"""tweety (Drosophila) homolog 2"", ""tweety homolog 2 (Drosophila)"""			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.853A>T	17.37:g.72245198A>T	ENSP00000269346:p.Thr285Ser		69756793	NM_032646	B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Missense_Mutation	SNP	ENST00000269346.4	37	CCDS32717.1	.	.	.	.	.	.	.	.	.	.	A	16.17	3.046202	0.55110	.	.	ENSG00000141540	ENST00000269346;ENST00000529107	T;T	0.13420	2.59;2.59	4.13	4.13	0.48395	.	0.055234	0.64402	D	0.000001	T	0.37732	0.1014	M	0.81341	2.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.27905	-1.0060	10	0.59425	D	0.04	-16.5728	12.2635	0.54663	1.0:0.0:0.0:0.0	.	264;285	B4DKD1;Q9BSA4	.;TTYH2_HUMAN	S	285;264	ENSP00000269346:T285S;ENSP00000433089:T264S	ENSP00000269346:T285S	T	+	1	0	TTYH2	69756793	1.000000	0.71417	0.592000	0.28758	0.143000	0.21401	8.231000	0.89794	1.725000	0.51514	0.383000	0.25322	ACG		0.572	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387459.1		
TMEM104	54868	broad.mit.edu	37	17	72832363	72832363	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr17:72832363C>T	ENST00000335464.5	+	10	1190	c.1028C>T	c.(1027-1029)gCg>gTg	p.A343V	TMEM104_ENST00000582330.1_Missense_Mutation_p.A343V|TMEM104_ENST00000582773.1_Intron|TMEM104_ENST00000417024.2_Intron	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	343						integral component of membrane (GO:0016021)		p.A343V(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					CTCAACTTCGCGCGCTGTGAC	0.612																																					p.A343V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1028T	17						.						290.0	226.0	248.0					17																	72832363		2203	4300	6503	70343958	SO:0001583	missense	54868	exon10			AK074029	CCDS32723.1	17q25.1	2005-12-19				ENSG00000109066			25984	protein-coding gene	gene with protein product							Standard	NM_017728		Approved	FLJ20255, FLJ00021	uc002jls.4	Q8NE00		ENST00000335464.5:c.1028C>T	17.37:g.72832363C>T	ENSP00000334849:p.Ala343Val		70343958	NM_017728	Q8TEU1|Q9NT56|Q9NXH1	Missense_Mutation	SNP	ENST00000335464.5	37	CCDS32723.1	.	.	.	.	.	.	.	.	.	.	c	3.919	-0.018537	0.07681	.	.	ENSG00000109066	ENST00000335464	T	0.02301	4.35	5.26	5.26	0.73747	.	0.139248	0.64402	D	0.000004	T	0.01835	0.0058	N	0.12182	0.205	0.30364	N	0.783504	B	0.17268	0.021	B	0.13407	0.009	T	0.41052	-0.9530	10	0.19590	T	0.45	-30.5252	14.7989	0.69898	0.0:0.856:0.144:0.0	.	343	Q8NE00	TM104_HUMAN	V	343	ENSP00000334849:A343V	ENSP00000334849:A343V	A	+	2	0	TMEM104	70343958	1.000000	0.71417	0.241000	0.24154	0.392000	0.30506	5.654000	0.67974	2.626000	0.88956	0.556000	0.70494	GCG		0.612	TMEM104-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444442.1	NM_017728	
DVL2	1856	broad.mit.edu	37	17	7129801	7129801	+	Silent	SNP	G	G	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr17:7129801G>T	ENST00000005340.5	-	14	1983	c.1701C>A	c.(1699-1701)ccC>ccA	p.P567P	DVL2_ENST00000575458.1_Silent_p.P561P|DVL2_ENST00000574642.1_5'Flank	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	567					canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration in hindbrain (GO:0021535)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hippo signaling (GO:0035329)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|segment specification (GO:0007379)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|clathrin-coated endocytic vesicle (GO:0045334)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|identical protein binding (GO:0042802)	p.P567P(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						GCTCATGGTAGGGTGGAGGCT	0.612																																					p.P567P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1701A	17						.						51.0	53.0	53.0					17																	7129801		2203	4300	6503	7070525	SO:0001819	synonymous_variant	1856	exon14			BC014844	CCDS11091.1	17p13.1	2013-05-22	2013-05-22		ENSG00000004975	ENSG00000004975		"""Dishevelled homologs"""	3086	protein-coding gene	gene with protein product		602151	"""dishevelled 2 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 2 (Drosophila)"""			8662242	Standard	NM_004422		Approved		uc002gez.1	O14641	OTTHUMG00000102155	ENST00000005340.5:c.1701C>A	17.37:g.7129801G>T			7070525	NM_004422	D3DTN3|Q53XM0	Silent	SNP	ENST00000005340.5	37	CCDS11091.1																																																																																				0.612	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219999.2	NM_004422	
PHF23	79142	broad.mit.edu	37	17	7139282	7139282	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr17:7139282G>A	ENST00000320316.3	-	4	1190	c.964C>T	c.(964-966)Cgg>Tgg	p.R322W	DVL2_ENST00000575458.1_5'Flank|PHF23_ENST00000570753.1_5'Flank|PHF23_ENST00000454255.2_Missense_Mutation_p.R318W|DVL2_ENST00000005340.5_5'Flank|PHF23_ENST00000576955.1_Missense_Mutation_p.R192W|PHF23_ENST00000571362.1_Missense_Mutation_p.R255W	NM_001284518.1|NM_024297.2	NP_001271447.1|NP_077273.2	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	322							zinc ion binding (GO:0008270)	p.R322W(1)		breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						TCCATGACCCGCATCTCGCCT	0.572																																					p.R322W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C964T	17						.						286.0	299.0	295.0					17																	7139282		2093	4219	6312	7080006	SO:0001583	missense	79142	exon4			AK122791	CCDS42250.1, CCDS67143.1, CCDS67144.1	17p13.1	2014-08-13			ENSG00000040633	ENSG00000040633		"""Zinc fingers, PHD-type"""	28428	protein-coding gene	gene with protein product		612910					Standard	NM_024297		Approved	MGC2941, FLJ16355	uc002gfa.3	Q9BUL5	OTTHUMG00000177972	ENST00000320316.3:c.964C>T	17.37:g.7139282G>A	ENSP00000322579:p.Arg322Trp		7080006	NM_024297	A1DZ74|B3KVH8|B4DLK6|D3DTN4|Q8IZK0|Q96HG7|Q9H5X0	Missense_Mutation	SNP	ENST00000320316.3	37	CCDS42250.1	.	.	.	.	.	.	.	.	.	.	G	11.88	1.771554	0.31320	.	.	ENSG00000040633	ENST00000320316;ENST00000454255	T;T	0.33865	1.4;1.39	4.65	2.63	0.31362	.	0.076641	0.56097	D	0.000028	T	0.15869	0.0382	N	0.19112	0.55	0.33319	D	0.5671	P;B	0.36909	0.573;0.381	B;B	0.20577	0.025;0.03	T	0.20840	-1.0263	10	0.41790	T	0.15	-6.9551	5.4979	0.16813	0.102:0.0:0.7016:0.1963	.	255;322	B4DLK6;Q9BUL5	.;PHF23_HUMAN	W	322;318	ENSP00000322579:R322W;ENSP00000414607:R318W	ENSP00000322579:R322W	R	-	1	2	PHF23	7080006	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.083000	0.41615	0.557000	0.29117	0.313000	0.20887	CGG		0.572	PHF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440047.1	NM_024297	
HID1	283987	broad.mit.edu	37	17	72960587	72960587	+	Silent	SNP	C	C	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr17:72960587C>A	ENST00000425042.2	-	2	284	c.207G>T	c.(205-207)ctG>ctT	p.L69L	HID1_ENST00000532900.1_5'UTR	NM_030630.2	NP_085133.1	Q8IV36	HID1_HUMAN	HID1 domain containing	69					intracellular protein transport (GO:0006886)|response to brefeldin A (GO:0031001)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)		p.L69L(1)									CCTTGTAGCACAGGGTGGCCA	0.662																																					p.L69L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G207T	17						.						86.0	73.0	78.0					17																	72960587		2202	4300	6502	70472182	SO:0001819	synonymous_variant	283987	exon2				CCDS32726.1	17q25.1	2012-10-10	2012-10-10	2012-10-10	ENSG00000167861	ENSG00000167861			15736	protein-coding gene	gene with protein product	"""downregulated in multiple cancer 1"""	605752	"""chromosome 17 open reading frame 28"""	C17orf28		11281419, 21337012	Standard	NM_030630		Approved	DMC1, HID-1	uc002jmj.4	Q8IV36	OTTHUMG00000166490	ENST00000425042.2:c.207G>T	17.37:g.72960587C>A			70472182	NM_030630	Q8N5L6|Q8TE83|Q9NT34	Silent	SNP	ENST00000425042.2	37	CCDS32726.1																																																																																				0.662	HID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390011.2	NM_030630	
RECQL5	9400	broad.mit.edu	37	17	73624837	73624837	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr17:73624837C>T	ENST00000317905.5	-	17	2654	c.2495G>A	c.(2494-2496)tGc>tAc	p.C832Y	RECQL5_ENST00000443199.2_5'UTR|RECQL5_ENST00000423245.2_Missense_Mutation_p.C805Y	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	832					chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)	p.C805Y(2)		breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			TCTGGGCGGGCAGGTGCTGGT	0.652								Other identified genes with known or suspected DNA repair function																													p.C832Y												.	.	2	Substitution - Missense(2)	urinary_tract(1)|large_intestine(1)	c.G2495A	17						.						63.0	68.0	66.0					17																	73624837		2035	4202	6237	71136432	SO:0001583	missense	9400	exon17			AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"""RecQ protein 5"""	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.2495G>A	17.37:g.73624837C>T	ENSP00000317636:p.Cys832Tyr		71136432	NM_004259	Q9H0B1|Q9P1W7|Q9UNC8	Missense_Mutation	SNP	ENST00000317905.5	37	CCDS42380.1	.	.	.	.	.	.	.	.	.	.	C	1.330	-0.596968	0.03771	.	.	ENSG00000108469	ENST00000443199;ENST00000423245;ENST00000317905	T	0.55930	0.49	4.75	0.224	0.15297	.	1.024380	0.07764	N	0.950569	T	0.31451	0.0797	L	0.31294	0.92	0.09310	N	0.999993	B;B;B	0.12630	0.003;0.006;0.004	B;B;B	0.10450	0.002;0.002;0.005	T	0.25916	-1.0118	10	0.02654	T	1	-1.0671	4.1248	0.10123	0.0:0.5117:0.1904:0.2979	.	832;805;28	O94762;Q6P4G0;Q6FIC9	RECQ5_HUMAN;.;.	Y	427;832;832	ENSP00000317636:C832Y	ENSP00000317636:C832Y	C	-	2	0	RECQL5	71136432	0.022000	0.18835	0.003000	0.11579	0.017000	0.09413	-0.223000	0.09177	0.230000	0.21059	0.563000	0.77884	TGC		0.652	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1	NM_004259	
KCTD11	147040	broad.mit.edu	37	17	7256474	7256474	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr17:7256474C>T	ENST00000333751.3	+	1	1267	c.213C>T	c.(211-213)gaC>gaT	p.D71D	TMEM95_ENST00000330767.4_5'Flank|TMEM95_ENST00000389982.4_5'Flank|TMEM95_ENST00000576060.1_5'Flank|RP11-542C16.1_ENST00000572417.1_RNA	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN	potassium channel tetramerization domain containing 11	71					cell cycle (GO:0007049)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)		p.D71D(1)		kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				CCCTCCTGGACGCGCTGCGGG	0.667																																					p.D71D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C213T	17						.						26.0	28.0	27.0					17																	7256474		2202	4300	6502	7197198	SO:0001819	synonymous_variant	147040	exon1			AK056227	CCDS32545.1	17p13.2	2013-06-20	2013-06-20	2003-11-26	ENSG00000213859	ENSG00000213859			21302	protein-coding gene	gene with protein product		609848	"""chromosome 17 open reading frame 36"", ""potassium channel tetramerisation domain containing 11"""	C17orf36		12186855, 21472142	Standard	NM_001002914		Approved	REN, KCASH1	uc002gge.4	Q693B1	OTTHUMG00000132061	ENST00000333751.3:c.213C>T	17.37:g.7256474C>T			7197198	NM_001002914	B3KPE0	Silent	SNP	ENST00000333751.3	37	CCDS32545.1																																																																																				0.667	KCTD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255084.2	NM_001002914	
TMEM95	339168	broad.mit.edu	37	17	7259798	7259798	+	Splice_Site	SNP	A	A	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr17:7259798A>T	ENST00000576060.1	+	6	524	c.497A>T	c.(496-498)gAg>gTg	p.E166V	TMEM95_ENST00000330767.4_Splice_Site_p.E174V|TMEM95_ENST00000389982.4_Splice_Site_p.G163G|RP11-542C16.1_ENST00000572417.1_RNA			Q3KNT9	TMM95_HUMAN	transmembrane protein 95	166						integral component of membrane (GO:0016021)		p.E174V(1)		large_intestine(1)|lung(2)	3		Prostate(122;0.173)				CTCCTGGTGGAGTGAGTTTTG	0.587											OREG0024137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E174V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A521T	17						.						235.0	233.0	234.0					17																	7259798		2203	4300	6503	7200522	SO:0001630	splice_region_variant	339168	exon6				CCDS32546.1	17p13.1	2005-12-15			ENSG00000182896	ENSG00000182896			27898	protein-coding gene	gene with protein product						12975309	Standard	NM_198154		Approved	MGC129793, UNQ9390	uc002ggf.1	Q3KNT9	OTTHUMG00000132899	ENST00000576060.1:c.497+1A>T	17.37:g.7259798A>T		640	7200522	NM_198154	B7WPI7|Q6UXT3|Q8IW68	Missense_Mutation	SNP	ENST00000576060.1	37		.	.	.	.	.	.	.	.	.	.	A	19.71	3.878600	0.72294	.	.	ENSG00000182896	ENST00000330767	.	.	.	4.72	4.72	0.59763	.	.	.	.	.	T	0.54159	0.1841	N	0.14661	0.345	0.36852	D	0.887963	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.64588	-0.6372	8	0.87932	D	0	.	10.505	0.44828	1.0:0.0:0.0:0.0	.	166;174	Q3KNT9;Q3KNT9-2	TMM95_HUMAN;.	V	174	.	ENSP00000331466:E174V	E	+	2	0	TMEM95	7200522	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	2.877000	0.48506	1.974000	0.57490	0.459000	0.35465	GAG		0.587	TMEM95-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440555.2	NM_198154	Missense_Mutation
ZBTB4	57659	broad.mit.edu	37	17	7365390	7365390	+	Missense_Mutation	SNP	C	C	T	rs374895110		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr17:7365390C>T	ENST00000311403.4	-	4	3250	c.2911G>A	c.(2911-2913)Gca>Aca	p.A971T	ZBTB4_ENST00000380599.4_Missense_Mutation_p.A971T	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	971					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|methyl-CpNpG binding (GO:0010428)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)	p.A971T(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		GGATTCACTGCGTAGCCAAAG	0.602																																					p.A971T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2911A	17						.	C	THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	122.0	128.0	126.0		2911,2911	-1.5	0.8	17		126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ZBTB4	NM_001128833.1,NM_020899.3	58,58	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	971/1014,971/1014	7365390	2,13004	2203	4300	6503	7306114	SO:0001583	missense	57659	exon4			AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23847	protein-coding gene	gene with protein product		612308				12477932	Standard	NM_020899		Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.2911G>A	17.37:g.7365390C>T	ENSP00000307858:p.Ala971Thr		7306114	NM_020899	B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	Missense_Mutation	SNP	ENST00000311403.4	37	CCDS11107.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.678786	0.29783	2.27E-4	1.16E-4	ENSG00000174282	ENST00000311403;ENST00000380599	T;T	0.05996	3.36;3.36	5.24	-1.51	0.08664	.	0.244968	0.29126	N	0.013066	T	0.03608	0.0103	L	0.29908	0.895	0.32423	N	0.549087	B	0.12013	0.005	B	0.08055	0.003	T	0.20739	-1.0266	10	0.52906	T	0.07	-0.1175	1.7345	0.02939	0.1296:0.3658:0.1265:0.3781	.	971	Q9P1Z0	ZBTB4_HUMAN	T	971	ENSP00000307858:A971T;ENSP00000369973:A971T	ENSP00000307858:A971T	A	-	1	0	ZBTB4	7306114	0.995000	0.38212	0.767000	0.31495	0.978000	0.69477	0.508000	0.22692	-0.498000	0.06632	-0.975000	0.02590	GCA		0.602	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226940.2	NM_020899	
POLR2A	5430	broad.mit.edu	37	17	7401131	7401131	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr17:7401131C>T	ENST00000322644.6	+	7	1543	c.1144C>T	c.(1144-1146)Cgc>Tgc	p.R382C	POLR2A_ENST00000572844.1_Missense_Mutation_p.R382C	NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	382					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)	p.R382C(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				TGGCGTGCCCCGCTCCATTGC	0.587																																					p.R382C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1144T	17						.						150.0	138.0	142.0					17																	7401131		2203	4300	6503	7341855	SO:0001583	missense	5430	exon7					17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.1144C>T	17.37:g.7401131C>T	ENSP00000314949:p.Arg382Cys		7341855	NM_000937	A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.145171	0.77888	.	.	ENSG00000181222	ENST00000535204;ENST00000322644	T	0.68903	-0.36	5.84	5.84	0.93424	RNA polymerase, alpha subunit (1);RNA polymerase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.85673	0.5751	M	0.93678	3.445	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79784	0.973;0.993	D	0.88589	0.3142	10	0.87932	D	0	-8.646	13.8342	0.63400	0.1532:0.8468:0.0:0.0	.	382;382	P24928;Q6NX41	RPB1_HUMAN;.	C	338;382	ENSP00000314949:R382C	ENSP00000314949:R382C	R	+	1	0	SLC35G6	7341855	0.999000	0.42202	1.000000	0.80357	0.992000	0.81027	4.108000	0.57817	2.769000	0.95229	0.563000	0.77884	CGC		0.587	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937	
PRPSAP1	5635	broad.mit.edu	37	17	74309918	74309918	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr17:74309918C>T	ENST00000446526.3	-	8	1281	c.836G>A	c.(835-837)cGc>cAc	p.R279H	PRPSAP1_ENST00000588364.1_5'Flank|PRPSAP1_ENST00000324684.4_Missense_Mutation_p.R176H	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1	250					negative regulation of kinase activity (GO:0033673)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide biosynthetic process (GO:0009165)	ribose phosphate diphosphokinase complex (GO:0002189)	enzyme inhibitor activity (GO:0004857)|magnesium ion binding (GO:0000287)|ribose phosphate diphosphokinase activity (GO:0004749)	p.R250H(2)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						GATTGCGATGCGGCCTCCAAC	0.453																																					p.R279H												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G836A	17						.						204.0	156.0	172.0					17																	74309918		2203	4300	6503	71821513	SO:0001583	missense	5635	exon8			D61391	CCDS11743.2	17q24-q25	2008-07-18			ENSG00000161542	ENSG00000161542			9466	protein-coding gene	gene with protein product		601249				8660991	Standard	NM_002766		Approved	PAP39	uc010wta.1	Q14558	OTTHUMG00000155969	ENST00000446526.3:c.836G>A	17.37:g.74309918C>T	ENSP00000414624:p.Arg279His		71821513	NM_002766	B2R6M4|Q96H06	Missense_Mutation	SNP	ENST00000446526.3	37	CCDS11743.2	.	.	.	.	.	.	.	.	.	.	C	19.69	3.874543	0.72180	.	.	ENSG00000161542	ENST00000446526;ENST00000324684;ENST00000435555	T;T;T	0.75704	-0.96;-0.96;-0.96	5.81	4.84	0.62591	.	0.047236	0.85682	D	0.000000	D	0.85022	0.5602	M	0.91354	3.2	0.80722	D	1	D;P	0.56521	0.976;0.507	P;B	0.55999	0.789;0.09	D	0.87197	0.2238	10	0.66056	D	0.02	.	10.3596	0.43984	0.0:0.7946:0.1358:0.0696	.	250;279	Q14558;Q14558-2	KPRA_HUMAN;.	H	279;176;176	ENSP00000414624:R279H;ENSP00000314973:R176H;ENSP00000392838:R176H	ENSP00000314973:R176H	R	-	2	0	PRPSAP1	71821513	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.051000	0.71072	1.444000	0.47605	0.591000	0.81541	CGC		0.453	PRPSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342480.2	NM_002766	
C1QTNF1	114897	broad.mit.edu	37	17	77043896	77043896	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr17:77043896G>A	ENST00000339142.2	+	5	1127	c.572G>A	c.(571-573)gGc>gAc	p.G191D	C1QTNF1_ENST00000311661.4_Missense_Mutation_p.G109D|C1QTNF1_ENST00000578229.1_Missense_Mutation_p.G109D|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.G201D|C1QTNF1_ENST00000583904.1_Missense_Mutation_p.G191D|C1QTNF1_ENST00000580454.1_Missense_Mutation_p.G191D|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.G191D|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.G191D|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.G191D|C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.G191D	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	191	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase B signaling (GO:0051897)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|regulation of glucose metabolic process (GO:0010906)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)	p.G191D(1)|p.G109D(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			TACGTGCCCGGCCTCTACTTC	0.537																																					p.G191D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G572A	17						.						170.0	153.0	159.0					17																	77043896		2203	4300	6503	74555491	SO:0001583	missense	114897	exon4			AF329840	CCDS11761.1, CCDS11762.1	17q25	2012-07-02			ENSG00000173918	ENSG00000173918			14324	protein-coding gene	gene with protein product	"""G protein coupled receptor interacting protein"""	610365				12409230	Standard	NM_198593		Approved	CTRP1, ZSIG37, GIP, FLJ90694	uc002jwp.4	Q9BXJ1	OTTHUMG00000177533	ENST00000339142.2:c.572G>A	17.37:g.77043896G>A	ENSP00000340864:p.Gly191Asp		74555491	NM_198593	Q6ZMH6|Q96NF2|Q9GZR4	Missense_Mutation	SNP	ENST00000339142.2	37	CCDS11761.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.785463	0.90282	.	.	ENSG00000173918	ENST00000339142;ENST00000311661;ENST00000354124;ENST00000392444;ENST00000392445	D;D;D	0.96856	-4.15;-4.15;-4.15	4.57	4.57	0.56435	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.000000	0.64402	D	0.000001	D	0.98868	0.9617	H	0.97540	4.025	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99716	1.1008	10	0.87932	D	0	.	17.3389	0.87291	0.0:0.0:1.0:0.0	.	201;201;191	A8K7L9;Q6ZMH6;Q9BXJ1	.;.;C1QT1_HUMAN	D	191;109;201;191;201	ENSP00000340864:G191D;ENSP00000311265:G109D;ENSP00000343230:G201D	ENSP00000311265:G109D	G	+	2	0	C1QTNF1	74555491	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.778000	0.99011	2.077000	0.62373	0.561000	0.74099	GGC		0.537	C1QTNF1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437388.2	NM_030968	
CBX8	57332	broad.mit.edu	37	17	77769884	77769884	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr17:77769884C>A	ENST00000269385.4	-	4	335	c.218G>T	c.(217-219)gGa>gTa	p.G73V	CBX8_ENST00000485449.1_5'UTR	NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	73					histone ubiquitination (GO:0016574)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	methylated histone binding (GO:0035064)|single-stranded RNA binding (GO:0003727)|ubiquitin-protein transferase activity (GO:0004842)	p.G73V(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGGCTTGGGTCCACGCTTTTT	0.517																																					p.G73V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G218T	17						.						199.0	201.0	200.0					17																	77769884		2203	4300	6503	75384479	SO:0001583	missense	57332	exon4			AF174482	CCDS11765.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141570	ENSG00000141570			15962	protein-coding gene	gene with protein product	"""polycomb 3"", ""Pc class 3 homolog (Drosophila)"""		"""chromobox homolog 8 (Drosophila Pc class)"""			10825164	Standard	NM_020649		Approved	RC1, HPC3, PC3	uc002jxd.2	Q9HC52	OTTHUMG00000150416	ENST00000269385.4:c.218G>T	17.37:g.77769884C>A	ENSP00000269385:p.Gly73Val		75384479	NM_020649	Q96H39|Q9NR07	Missense_Mutation	SNP	ENST00000269385.4	37	CCDS11765.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.376317	0.61735	.	.	ENSG00000141570	ENST00000269385;ENST00000427800;ENST00000413392	T;T;T	0.05580	3.42;3.42;3.42	4.25	3.27	0.37495	.	0.052938	0.85682	D	0.000000	T	0.12817	0.0311	M	0.86864	2.845	0.80722	D	1	B	0.32829	0.386	B	0.33392	0.163	T	0.02020	-1.1228	10	0.45353	T	0.12	-5.6728	12.0105	0.53284	0.1732:0.8268:0.0:0.0	.	73	Q9HC52	CBX8_HUMAN	V	73;48;63	ENSP00000269385:G73V;ENSP00000408753:G48V;ENSP00000405058:G63V	ENSP00000269385:G73V	G	-	2	0	CBX8	75384479	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	7.048000	0.76606	0.892000	0.36259	0.555000	0.69702	GGA		0.517	CBX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318011.1	NM_020649	
CCDC40	55036	broad.mit.edu	37	17	78055461	78055461	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr17:78055461C>T	ENST00000397545.4	+	11	1706	c.1679C>T	c.(1678-1680)aCg>aTg	p.T560M	CCDC40_ENST00000374877.3_Missense_Mutation_p.T560M	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	560					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)		p.T560M(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CGGACAGAGACGGAAGCCACA	0.557																																					p.T560M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1679T	17						.						44.0	52.0	49.0					17																	78055461		2113	4225	6338	75670056	SO:0001583	missense	55036	exon11			AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.1679C>T	17.37:g.78055461C>T	ENSP00000380679:p.Thr560Met		75670056	NM_017950	A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	De_novo_Start_OutOfFrame	SNP	ENST00000397545.4	37	CCDS42395.1	.	.	.	.	.	.	.	.	.	.	C	9.280	1.048006	0.19827	.	.	ENSG00000141519	ENST00000374877;ENST00000397545	T;T	0.49432	0.78;0.8	5.35	3.15	0.36227	.	.	.	.	.	T	0.46249	0.1383	M	0.73598	2.24	0.23700	N	0.997077	D;D	0.59767	0.986;0.967	B;B	0.43728	0.38;0.429	T	0.46762	-0.9168	9	0.54805	T	0.06	-19.9269	4.9382	0.13952	0.198:0.6064:0.108:0.0876	.	560;343	Q4G0X9;Q4G0X9-3	CCD40_HUMAN;.	M	560	ENSP00000364011:T560M;ENSP00000380679:T560M	ENSP00000364011:T560M	T	+	2	0	CCDC40	75670056	0.097000	0.21791	0.314000	0.25224	0.077000	0.17291	0.485000	0.22324	1.242000	0.43836	-0.140000	0.14226	ACG		0.557	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082	
RNF213	57674	broad.mit.edu	37	17	78367267	78367267	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr17:78367267C>T	ENST00000582970.1	+	68	15736	c.15593C>T	c.(15592-15594)gCt>gTt	p.A5198V	RNF213_ENST00000508628.2_Missense_Mutation_p.A5247V|CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000427003.3_3'UTR|RNF213_ENST00000336301.6_Missense_Mutation_p.A3271V|CTD-2047H16.4_ENST00000573394.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	5198					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AAAACAGCTGCTGTGCTGAAA	0.448																																					p.A5247V												.	.	0			c.C15740T	17						.						102.0	97.0	98.0					17																	78367267		2203	4300	6503	75981862	SO:0001583	missense	57674	exon69			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.15593C>T	17.37:g.78367267C>T	ENSP00000464087:p.Ala5198Val		75981862	NM_020914	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	C	9.824	1.186550	0.21870	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301;ENST00000427003	T	0.18174	2.23	4.46	3.48	0.39840	.	0.318671	0.29028	N	0.013362	T	0.12475	0.0303	L	0.37561	1.115	0.23113	N	0.998273	B;B	0.26902	0.163;0.012	B;B	0.19148	0.024;0.015	T	0.21314	-1.0249	10	0.15952	T	0.53	.	12.7881	0.57518	0.0:0.9194:0.0:0.0806	.	5198;3271	D6RI12;Q63HN8	.;RN213_HUMAN	V	5198;5247;3271;548	ENSP00000338218:A3271V	ENSP00000338218:A3271V	A	+	2	0	RNF213	75981862	0.980000	0.34600	0.012000	0.15200	0.023000	0.10783	2.444000	0.44890	1.006000	0.39211	0.563000	0.77884	GCT		0.448	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914	
ABR	29	broad.mit.edu	37	17	1003931	1003931	+	Silent	SNP	C	C	T	rs376958191		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr17:1003931C>T	ENST00000302538.5	-	3	437	c.291G>A	c.(289-291)tcG>tcA	p.S97S	ABR_ENST00000544583.2_Silent_p.S51S|ABR_ENST00000291107.2_Silent_p.S60S|ABR_ENST00000574437.1_Silent_p.S51S	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	97	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S97S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CCAAGAACCCCGAGAGAACCA	0.592																																					p.S97S	Esophageal Squamous(197;2016 2115 4129 29033 46447)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G291A	17						.	C	,,	0,4406		0,0,2203	185.0	161.0	169.0		180,153,291	-7.8	1.0	17		169	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	ABR	NM_001092.3,NM_001159746.1,NM_021962.2	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	60/823,51/814,97/860	1003931	1,13005	2203	4300	6503	950681	SO:0001819	synonymous_variant	29	exon3			L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	81	protein-coding gene	gene with protein product		600365	"""active BCR-related gene"""			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.291G>A	17.37:g.1003931C>T			950681	NM_021962	B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Silent	SNP	ENST00000302538.5	37	CCDS10999.1																																																																																				0.592	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4		
TP53	7157	broad.mit.edu	37	17	7578398	7578398	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr17:7578398delG	ENST00000269305.4	-	5	721	c.532delC	c.(532-534)cacfs	p.H179fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.H179fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.H179fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.H179fs|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Frame_Shift_Del_p.H179fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.H179fs	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	179	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H178fs*69(14)|p.P177_C182delPHHERC(8)|p.H178Y(8)|p.0?(8)|p.H178D(7)|p.H178fs*3(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.H178N(3)|p.H85fs*69(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H46fs*>45(2)|p.C176fs*65(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.P177fs*69(1)|p.R175_H178>X(1)|p.H46D(1)|p.H85D(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.H178del(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.R174fs*3(1)|p.E171fs*61(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)	CGCTCATGGTGGGGGCAGCGC	0.642		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.H178fs	Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	TP53,central_nervous_system,brain,Substitution - Missense,+2 	.	98	Deletion - Frameshift(38)|Deletion - In frame(25)|Substitution - Missense(20)|Whole gene deletion(8)|Insertion - Frameshift(4)|Complex - deletion inframe(3)	large_intestine(22)|breast(12)|upper_aerodigestive_tract(10)|ovary(9)|haematopoietic_and_lymphoid_tissue(6)|endometrium(6)|skin(6)|bone(5)|central_nervous_system(4)|lung(4)|oesophagus(4)|stomach(3)|liver(2)|pancreas(2)|thyroid(1)|vulva(1)|urinary_tract(1)	c.532delC	17	GRCh37	CD983489	TP53	D	rs68130327	.						47.0	47.0	47.0					17																	7578398		2203	4300	6503	7519123	SO:0001589	frameshift_variant	7157	exon5	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.532delC	17.37:g.7578398delG	ENSP00000269305:p.His179fs		7519123	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	Frame_Shift_Del	DEL	ENST00000269305.4	37	CCDS11118.1																																																																																				0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
KDM6B	23135	broad.mit.edu	37	17	7752901	7752901	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr17:7752901delC	ENST00000448097.2	+	11	3626	c.3295delC	c.(3295-3297)cccfs	p.P1100fs	KDM6B_ENST00000254846.5_Frame_Shift_Del_p.P1100fs			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1100					cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.K1101fs*3(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						TAGTGAGGGGCCCCCCAAGGA	0.627																																					p.P1099fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.3295delC	17						.						17.0	20.0	19.0					17																	7752901		2201	4289	6490	7693626	SO:0001589	frameshift_variant	23135	exon11			AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.3295delC	17.37:g.7752901delC	ENSP00000412513:p.Pro1100fs		7693626	NM_001080424	C9IZ40|Q96G33	Frame_Shift_Del	DEL	ENST00000448097.2	37																																																																																					0.627	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272	
ALOXE3	59344	broad.mit.edu	37	17	8020190	8020190	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr17:8020190G>A	ENST00000448843.2	-	3	596	c.256C>T	c.(256-258)Cgc>Tgc	p.R86C	ALOXE3_ENST00000380149.1_Missense_Mutation_p.R242C|ALOXE3_ENST00000318227.3_Missense_Mutation_p.R218C	NM_021628.2	NP_067641.2	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	86	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|fat cell differentiation (GO:0045444)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|sensory perception of pain (GO:0019233)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)	hepoxilin A3 synthase activity (GO:0051120)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						ACACAGATGCGGCTACAGTAC	0.572																																					p.R218C												.	.	0			c.C652T	17						.						144.0	100.0	115.0					17																	8020190		2203	4300	6503	7960915	SO:0001583	missense	59344	exon3			AJ269499	CCDS11130.1, CCDS54084.1	17p13.1	2009-07-10			ENSG00000179148	ENSG00000179148	1.13.11.-	"""Arachidonate lipoxygenases"""	13743	protein-coding gene	gene with protein product		607206					Standard	NM_021628		Approved	eLOX3, E-LOX	uc010vuo.2	Q9BYJ1	OTTHUMG00000108179	ENST00000448843.2:c.256C>T	17.37:g.8020190G>A	ENSP00000400581:p.Arg86Cys		7960915	NM_001165960	B2R981|B7Z3W0|Q3ZB74|Q9H4F2|Q9HC22	Missense_Mutation	SNP	ENST00000448843.2	37	CCDS11130.1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.623558	0.28889	.	.	ENSG00000179148	ENST00000380149;ENST00000318227;ENST00000448843	T;T;T	0.67523	-0.27;-0.27;-0.27	5.26	-2.49	0.06403	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	1.164800	0.05657	N	0.586216	T	0.49932	0.1586	N	0.25485	0.75	0.09310	N	0.999992	B;B;B	0.15930	0.015;0.004;0.004	B;B;B	0.13407	0.009;0.009;0.009	T	0.35101	-0.9802	10	0.38643	T	0.18	-0.1312	6.5855	0.22618	0.5549:0.0:0.3226:0.1225	.	218;86;86	B7Z3W0;Q9BYJ1;B3KVD2	.;LOXE3_HUMAN;.	C	242;218;86	ENSP00000369494:R242C;ENSP00000314879:R218C;ENSP00000400581:R86C	ENSP00000314879:R218C	R	-	1	0	ALOXE3	7960915	0.000000	0.05858	0.034000	0.17996	0.930000	0.56654	-1.247000	0.02893	-0.315000	0.08703	-0.324000	0.08512	CGC		0.572	ALOXE3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441475.1		
MYH10	4628	broad.mit.edu	37	17	8390816	8390816	+	Missense_Mutation	SNP	C	C	T	rs77768450		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr17:8390816C>T	ENST00000269243.4	-	34	5026	c.4888G>A	c.(4888-4890)Gaa>Aaa	p.E1630K	MYH10_ENST00000360416.3_Missense_Mutation_p.E1661K|MYH10_ENST00000379980.4_Missense_Mutation_p.E1646K|MYH10_ENST00000396239.1_Missense_Mutation_p.E1651K	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1630					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.E1630K(1)		breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						ATTTGGGCTTCGAGGTCCTTC	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		20075	0.0		0.001	False		,,,				2504	0.0				p.E1630K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4888A	17						.	C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	260.0	241.0	247.0		4888	5.1	0.9	17	dbSNP_131	247	2,8598	2.2+/-6.3	0,2,4298	yes	missense	MYH10	NM_005964.1	56	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	benign	1630/1977	8390816	3,13003	2203	4300	6503	8331541	SO:0001583	missense	4628	exon34			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.4888G>A	17.37:g.8390816C>T	ENSP00000269243:p.Glu1630Lys		8331541	NM_005964	B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	CCDS11144.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.93	3.727526	0.69074	2.27E-4	2.33E-4	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81	5.05	5.05	0.67936	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.86977	0.6063	M	0.73217	2.22	0.80722	D	1	P;P;P	0.39404	0.672;0.621;0.672	B;B;B	0.41466	0.358;0.244;0.358	D	0.88626	0.3166	10	0.87932	D	0	.	18.9576	0.92665	0.0:1.0:0.0:0.0	.	1639;1661;1630	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	K	1630;1661;1651;1646	ENSP00000269243:E1630K;ENSP00000353590:E1661K;ENSP00000379539:E1651K;ENSP00000369315:E1646K	ENSP00000269243:E1630K	E	-	1	0	MYH10	8331541	1.000000	0.71417	0.879000	0.34478	0.448000	0.32197	7.609000	0.82925	2.789000	0.95967	0.655000	0.94253	GAA		0.552	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2		
TMEM132E	124842	broad.mit.edu	37	17	32953916	32953916	+	Frame_Shift_Del	DEL	C	C	-	rs570912462		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr17:32953916delC	ENST00000321639.5	+	3	896	c.568delC	c.(568-570)cccfs	p.P191fs		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	191						integral component of membrane (GO:0016021)		p.R192fs*13(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GTTCCGCCCGCCCCCCAGGAG	0.731																																					p.P190fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.568delC	17						.						25.0	26.0	26.0					17																	32953916		2200	4297	6497	29978029	SO:0001589	frameshift_variant	124842	exon3			BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.568delC	17.37:g.32953916delC	ENSP00000316532:p.Pro191fs		29978029	NM_207313	Q8WUF4|Q8WVA5	Frame_Shift_Del	DEL	ENST00000321639.5	37	CCDS11283.1																																																																																				0.731	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313	
ARHGAP27	201176	broad.mit.edu	37	17	43482356	43482356	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr17:43482356delG	ENST00000428638.1	-	3	1181	c.1182delC	c.(1180-1182)cccfs	p.P394fs	ARHGAP27_ENST00000532891.2_Frame_Shift_Del_p.P394fs|ARHGAP27_ENST00000442348.1_Frame_Shift_Del_p.P394fs|ARHGAP27_ENST00000532038.1_Frame_Shift_Del_p.P194fs|ARHGAP27_ENST00000528384.1_Frame_Shift_Del_p.P53fs|ARHGAP27_ENST00000376922.2_Frame_Shift_Del_p.P53fs|ARHGAP27_ENST00000455881.1_Frame_Shift_Del_p.P53fs|ARHGAP27_ENST00000582826.1_5'Flank			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	394					positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of Rac GTPase activity (GO:0032855)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|SH3 domain binding (GO:0017124)	p.G54fs*24(1)		endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					AAGACCAGCCGGGGGGTGTGG	0.627																																					p.P53fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.159delC	17						.						57.0	55.0	56.0					17																	43482356		2203	4300	6503	40838139	SO:0001589	frameshift_variant	201176	exon3			AK125535	CCDS11498.1, CCDS74082.1	17q21.31	2013-01-10			ENSG00000159314	ENSG00000159314		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	31813	protein-coding gene	gene with protein product		610591	"""SH3 domain containing 20"""	SH3D20		15147912	Standard	NM_199282		Approved	CAMGAP1, FLJ43547, SH3P20	uc002iix.3	Q6ZUM4	OTTHUMG00000166982	ENST00000428638.1:c.1182delC	17.37:g.43482356delG	ENSP00000403323:p.Pro394fs		40838139	NM_199282	A4FU35|A8K3N5|C9JTF3|Q494U0|Q6NWZ8|Q8WY58	Frame_Shift_Del	DEL	ENST00000428638.1	37																																																																																					0.627	ARHGAP27-202	KNOWN	basic	protein_coding	protein_coding		NM_199282	
EME1	146956	broad.mit.edu	37	17	48457734	48457734	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr17:48457734delA	ENST00000338165.4	+	8	1490	c.1408delA	c.(1408-1410)aagfs	p.K470fs	EME1_ENST00000511648.2_Frame_Shift_Del_p.K483fs|EME1_ENST00000393271.2_Frame_Shift_Del_p.K483fs	NM_152463.2	NP_689676.2	Q96AY2	EME1_HUMAN	essential meiotic structure-specific endonuclease 1	470					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)	p.K470fs*11(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			TGGAGGGGTGAAGGTGGACCT	0.547								Direct reversal of damage;Homologous recombination																													p.K483fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1447delA	17						.						87.0	66.0	73.0					17																	48457734		2203	4300	6503	45812733	SO:0001589	frameshift_variant	146956	exon8			BC016470	CCDS11565.1, CCDS54141.1	17q21.33	2013-07-03	2013-07-03			ENSG00000154920			24965	protein-coding gene	gene with protein product	"""SLX2 structure-specific endonuclease subunit homolog A (S. cerevisiae)"""	610885	"""essential meiotic endonuclease 1 homolog 1 (S. pombe)"""			12721304	Standard	NM_001166131		Approved	FLJ31364, MMS4L, SLX2A	uc010dbp.2	Q96AY2		ENST00000338165.4:c.1408delA	17.37:g.48457734delA	ENSP00000339897:p.Lys470fs		45812733	NM_001166131	Q96N62	Frame_Shift_Del	DEL	ENST00000338165.4	37	CCDS11565.1																																																																																				0.547	EME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367118.3	NM_152463	
METTL23	124512	broad.mit.edu	37	17	74725844	74725846	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	AGA	AGA	AGA	-	AGA	AGA	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr17:74725844_74725846delAGA	ENST00000341249.6	+	2	384_386	c.52_54delAGA	c.(52-54)agadel	p.R19del	METTL23_ENST00000586752.1_Intron|METTL23_ENST00000586200.1_Intron|METTL23_ENST00000588822.1_Intron|METTL23_ENST00000591571.1_Intron|METTL23_ENST00000586738.1_In_Frame_Del_p.R19del|METTL23_ENST00000590964.1_Intron|METTL23_ENST00000588302.1_Intron|METTL23_ENST00000588783.1_In_Frame_Del_p.R19del|METTL23_ENST00000589977.1_In_Frame_Del_p.R19del	NM_001206984.1	NP_001193913.1	Q86XA0	MET23_HUMAN	methyltransferase like 23	19						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	methyltransferase activity (GO:0008168)	p.R18delR(1)		large_intestine(2)|lung(1)	3						TTGGTTTCACAGAAGATCTCTGC	0.443																																					p.18_18del												.	.	1	Deletion - In frame(1)	large_intestine(1)	c.52_54del	17						.																																			72237441	SO:0001651	inframe_deletion	124512	exon2				CCDS45787.1, CCDS59298.1	17q25.2	2011-03-03	2011-03-03	2011-03-03	ENSG00000181038	ENSG00000181038			26988	protein-coding gene	gene with protein product		615262	"""chromosome 17 open reading frame 95"""	C17orf95		12477932	Standard	NM_001080510		Approved	LOC124512	uc021udl.1	Q86XA0		ENST00000341249.6:c.52_54delAGA	17.37:g.74725847_74725849delAGA	ENSP00000341543:p.Arg19del		72237439	NM_001080510	H9ZYJ0|K7EK32	In_Frame_Del	DEL	ENST00000341249.6	37	CCDS45787.1																																																																																				0.443	METTL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451002.1	NM_001080510	
CEP131	22994	broad.mit.edu	37	17	79165009	79165009	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	T	T	T	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr17:79165009T>G	ENST00000269392.4	-	22	3005	c.2758A>C	c.(2758-2760)Aag>Cag	p.K920Q	AZI1_ENST00000374782.3_Missense_Mutation_p.K881Q|AZI1_ENST00000450824.2_Missense_Mutation_p.K917Q|AZI1_ENST00000575907.1_Missense_Mutation_p.K884Q	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		920					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TCGGCAGCCTTCTCACTCTCC	0.647																																					p.K881Q												.	.	0			c.A2641C	17						.						59.0	62.0	61.0					17																	79165009		2203	4300	6503	76779604	SO:0001583	missense	22994	exon21																														ENST00000269392.4:c.2758A>C	17.37:g.79165009T>G	ENSP00000269392:p.Lys920Gln		76779604	NM_001009811	A6NHI8|B2RN11|Q96F50	Missense_Mutation	SNP	ENST00000269392.4	37		.	.	.	.	.	.	.	.	.	.	T	0.781	-0.762215	0.02996	.	.	ENSG00000141577	ENST00000450824;ENST00000374782;ENST00000269392	T;T;T	0.13420	2.59;2.61;2.59	4.62	-2.24	0.06909	.	0.128303	0.46145	D	0.000308	T	0.06600	0.0169	N	0.03608	-0.345	0.21445	N	0.999682	B;B;B;B	0.22909	0.034;0.077;0.008;0.008	B;B;B;B	0.17722	0.012;0.019;0.013;0.013	T	0.13495	-1.0507	10	0.37606	T	0.19	-30.6358	19.4685	0.94952	0.0:0.0:0.6454:0.3546	.	917;920;881;917	B2RN10;Q9UPN4;Q9UPN4-3;Q9UPN4-2	.;AZI1_HUMAN;.;.	Q	917;881;920	ENSP00000393583:K917Q;ENSP00000363914:K881Q;ENSP00000269392:K920Q	ENSP00000269392:K920Q	K	-	1	0	AZI1	76779604	0.743000	0.28239	0.039000	0.18376	0.035000	0.12851	-0.354000	0.07681	-0.636000	0.05524	-1.503000	0.00956	AAG		0.647	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000256070.1		
SPIRE1	56907	broad.mit.edu	37	18	12452385	12452385	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr18:12452385C>T	ENST00000409402.4	-	16	2148	c.1881G>A	c.(1879-1881)cgG>cgA	p.R627R	SPIRE1_ENST00000410092.3_Silent_p.R613R|SPIRE1_ENST00000309836.5_Silent_p.R416R|SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000453447.2_Silent_p.R493R	NM_001128626.1	NP_001122098.1			spire-type actin nucleation factor 1									p.R454R(1)|p.R627R(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						TGGAGGGCAGCCGCATCTATT	0.438																																					p.R613R												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1839A	18						.						104.0	96.0	99.0					18																	12452385		2203	4300	6503	12442385	SO:0001819	synonymous_variant	56907	exon15			AL833817	CCDS32790.2, CCDS45829.1, CCDS45830.1	18p11.21	2013-08-27	2013-08-27		ENSG00000134278	ENSG00000134278			30622	protein-coding gene	gene with protein product		609216	"""spire homolog 1 (Drosophila)"", ""spire family actin nucleation factor 1"""			10574461, 11747823	Standard	NM_001128626		Approved	spir-1, KIAA1135	uc002kre.3	Q08AE8	OTTHUMG00000153940	ENST00000409402.4:c.1881G>A	18.37:g.12452385C>T			12442385	NM_020148		Silent	SNP	ENST00000409402.4	37	CCDS45829.1																																																																																				0.438	SPIRE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333109.2	XM_290818	
ANKRD29	147463	broad.mit.edu	37	18	21214088	21214088	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr18:21214088G>A	ENST00000592179.1	-	5	510	c.356C>T	c.(355-357)gCc>gTc	p.A119V	ANKRD29_ENST00000284207.7_Missense_Mutation_p.A119V|ANKRD29_ENST00000322980.9_Missense_Mutation_p.A119V	NM_173505.2	NP_775776.2	Q8N6D5	ANR29_HUMAN	ankyrin repeat domain 29	119								p.A119V(1)		breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)	13	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GTACTGACTGGCAGCCAACAG	0.522																																					p.A119V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C356T	18						.						98.0	77.0	84.0					18																	21214088		2203	4300	6503	19468086	SO:0001583	missense	147463	exon5			AK057782	CCDS11879.1	18q11.2	2013-01-10			ENSG00000154065	ENSG00000154065		"""Ankyrin repeat domain containing"""	27110	protein-coding gene	gene with protein product							Standard	NM_173505		Approved	FLJ25053	uc002kun.3	Q8N6D5	OTTHUMG00000131875	ENST00000592179.1:c.356C>T	18.37:g.21214088G>A	ENSP00000468354:p.Ala119Val		19468086	NM_173505	B2R972|Q6ZWE8|Q96LU9	Missense_Mutation	SNP	ENST00000592179.1	37	CCDS11879.1	.	.	.	.	.	.	.	.	.	.	G	35	5.542502	0.96474	.	.	ENSG00000154065	ENST00000322980;ENST00000284207	D;D	0.86769	-1.53;-2.17	5.66	5.66	0.87406	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.95111	0.8416	M	0.92026	3.265	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.996	D	0.95361	0.8455	10	0.66056	D	0.02	.	18.8957	0.92423	0.0:0.0:1.0:0.0	.	119;119	Q8N6D5-3;Q8N6D5	.;ANR29_HUMAN	V	119	ENSP00000323387:A119V;ENSP00000284207:A119V	ENSP00000284207:A119V	A	-	2	0	ANKRD29	19468086	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.510000	0.90532	2.832000	0.97577	0.655000	0.94253	GCC		0.522	ANKRD29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254825.1	NM_173505	
SMCHD1	23347	broad.mit.edu	37	18	2750476	2750476	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr18:2750476C>T	ENST00000320876.6	+	32	4474	c.4136C>T	c.(4135-4137)gCa>gTa	p.A1379V	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.A1379V	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1379					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)	p.A1379V(2)|p.A827V(1)		NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GACAAAGATGCATCCTTCTTA	0.313																																					p.A1379V												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C4136T	18						.						45.0	42.0	43.0					18																	2750476		1822	4087	5909	2740476	SO:0001583	missense	23347	exon32			AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.4136C>T	18.37:g.2750476C>T	ENSP00000326603:p.Ala1379Val		2740476	NM_015295	O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	C	11.10	1.539639	0.27563	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.24151	1.87;1.88	5.66	2.49	0.30216	.	0.177118	0.48286	D	0.000194	T	0.18882	0.0453	L	0.34521	1.04	0.29760	N	0.835594	B	0.10296	0.003	B	0.08055	0.003	T	0.11372	-1.0590	10	0.41790	T	0.15	-4.1465	11.4364	0.50070	0.0:0.7599:0.0:0.2401	.	1379	A6NHR9	SMHD1_HUMAN	V	1379	ENSP00000326603:A1379V;ENSP00000261598:A1379V	ENSP00000261598:A1379V	A	+	2	0	SMCHD1	2740476	1.000000	0.71417	0.992000	0.48379	0.592000	0.36648	2.138000	0.42140	0.757000	0.33036	-0.136000	0.14681	GCA		0.313	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2		
LAMA3	3909	broad.mit.edu	37	18	21330992	21330992	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr18:21330992C>T	ENST00000313654.9	+	5	1036	c.795C>T	c.(793-795)acC>acT	p.T265T	LAMA3_ENST00000399516.3_Silent_p.T265T	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	265	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.T265T(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TTCTTAGAACCAATACGCTTC	0.448																																					p.T265T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C795T	18						.						112.0	111.0	111.0					18																	21330992		1886	4116	6002	19584990	SO:0001819	synonymous_variant	3909	exon5			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.795C>T	18.37:g.21330992C>T			19584990	NM_198129	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Silent	SNP	ENST00000313654.9	37	CCDS42419.1																																																																																				0.448	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129	
TRAPPC8	22878	broad.mit.edu	37	18	29447379	29447379	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr18:29447379C>T	ENST00000283351.4	-	17	2784	c.2449G>A	c.(2449-2451)Gaa>Aaa	p.E817K	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.E763K	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	817					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)		p.E817K(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTTGATTCTTCGCCATTAATT	0.259																																					p.E817K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2449A	18						.						47.0	49.0	49.0					18																	29447379		2201	4284	6485	27701377	SO:0001583	missense	22878	exon17			AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.2449G>A	18.37:g.29447379C>T	ENSP00000283351:p.Glu817Lys		27701377	NM_014939	A0JP15|B3KME5|Q9H0L2	Missense_Mutation	SNP	ENST00000283351.4	37	CCDS11901.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.698095	0.48307	.	.	ENSG00000153339	ENST00000283351	T	0.09073	3.02	5.49	5.49	0.81192	.	0.047167	0.85682	D	0.000000	T	0.08670	0.0215	M	0.65975	2.015	0.80722	D	1	P	0.44429	0.835	B	0.28465	0.09	T	0.29458	-1.0011	10	0.06494	T	0.89	.	18.9582	0.92668	0.0:1.0:0.0:0.0	.	817	Q9Y2L5	TPPC8_HUMAN	K	817	ENSP00000283351:E817K	ENSP00000283351:E817K	E	-	1	0	TRAPPC8	27701377	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	5.926000	0.70070	2.587000	0.87381	0.585000	0.79938	GAA		0.259	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939	
SETBP1	26040	broad.mit.edu	37	18	42281764	42281764	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr18:42281764G>A	ENST00000282030.5	+	2	749	c.453G>A	c.(451-453)acG>acA	p.T151T	SETBP1_ENST00000426838.4_Silent_p.T151T	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	151						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.T97T(1)|p.T151T(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GCAAAGCCACGAAGGAGGAAG	0.428									Schinzel-Giedion syndrome																												p.T151T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G453A	18						.						43.0	38.0	40.0					18																	42281764		2203	4300	6503	40535762	SO:0001819	synonymous_variant	26040	exon2	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.453G>A	18.37:g.42281764G>A			40535762	NM_015559	A6H8W5|Q6P6C3|Q9UEF3	Silent	SNP	ENST00000282030.5	37	CCDS11923.2																																																																																				0.428	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110	
CTIF	9811	broad.mit.edu	37	18	46385768	46385768	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr18:46385768G>T	ENST00000256413.3	+	12	1930	c.1635G>T	c.(1633-1635)gaG>gaT	p.E545D	CTIF_ENST00000382998.4_Missense_Mutation_p.E547D	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	545	MIF4G.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)	p.E545D(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						TGATGACAGAGCTCCTGGCCA	0.622																																					p.E547D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1641T	18						.						78.0	76.0	77.0					18																	46385768		2203	4300	6503	44639766	SO:0001583	missense	9811	exon13			AB007887	CCDS11935.1, CCDS45864.1	18q21.1	2011-01-20	2011-01-20	2011-01-20	ENSG00000134030	ENSG00000134030			23925	protein-coding gene	gene with protein product		613178	"""KIAA0427"""	KIAA0427		9455477, 19648179	Standard	NM_014772		Approved		uc002ldd.3	O43310	OTTHUMG00000132656	ENST00000256413.3:c.1635G>T	18.37:g.46385768G>T	ENSP00000256413:p.Glu545Asp		44639766	NM_001142397	B3KTR8|Q8IVD5	Missense_Mutation	SNP	ENST00000256413.3	37	CCDS11935.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.981965	0.93044	.	.	ENSG00000134030	ENST00000256413;ENST00000382998;ENST00000420275	T;T	0.24151	1.87;1.87	5.07	5.07	0.68467	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.44746	0.1308	L	0.46614	1.455	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.70487	0.969;0.96	T	0.21314	-1.0249	10	0.40728	T	0.16	-10.7851	18.0457	0.89331	0.0:0.0:1.0:0.0	.	547;545	O43310-2;O43310	.;CTIF_HUMAN	D	545;547;497	ENSP00000256413:E545D;ENSP00000372459:E547D	ENSP00000256413:E545D	E	+	3	2	CTIF	44639766	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.507000	0.66999	2.382000	0.81193	0.561000	0.74099	GAG		0.622	CTIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255907.1	NM_014772	
SMAD4	4089	broad.mit.edu	37	18	48575213	48575213	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr18:48575213T>C	ENST00000342988.3	+	3	945	c.407T>C	c.(406-408)gTt>gCt	p.V136A	SMAD4_ENST00000452201.2_Missense_Mutation_p.V136A|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000398417.2_Missense_Mutation_p.V136A|SMAD4_ENST00000588745.1_Missense_Mutation_p.V136A	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	136	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(4)|p.V136A(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TACGAACGAGTTGTATCACCT	0.313																																					p.V136A												.	.	41	Whole gene deletion(36)|Unknown(4)|Substitution - Missense(1)	pancreas(26)|large_intestine(4)|stomach(3)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)|NS(1)	c.T407C	18						.						123.0	110.0	114.0					18																	48575213		2203	4300	6503	46829211	SO:0001583	missense	4089	exon3			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.407T>C	18.37:g.48575213T>C	ENSP00000341551:p.Val136Ala		46829211	NM_005359	A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.725664	0.89298	.	.	ENSG00000141646	ENST00000452201;ENST00000342988;ENST00000544926;ENST00000398417	T;T;T	0.80214	-1.35;-0.83;-0.83	5.48	5.48	0.80851	MAD homology, MH1 (3);MAD homology 1, Dwarfin-type (2);	0.000000	0.85682	D	0.000000	D	0.91126	0.7206	M	0.90198	3.095	0.80722	D	1	D	0.67145	0.996	D	0.76575	0.988	D	0.92895	0.6334	10	0.87932	D	0	.	14.5339	0.67947	0.0:0.0:0.0:1.0	.	136	Q13485	SMAD4_HUMAN	A	136	ENSP00000409551:V136A;ENSP00000341551:V136A;ENSP00000381452:V136A	ENSP00000341551:V136A	V	+	2	0	SMAD4	46829211	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.014000	0.88676	2.053000	0.61076	0.477000	0.44152	GTT		0.313	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359	
SMAD4	4089	broad.mit.edu	37	18	48591919	48591919	+	Missense_Mutation	SNP	G	G	A	rs377767347		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr18:48591919G>A	ENST00000342988.3	+	9	1620	c.1082G>A	c.(1081-1083)cGc>cAc	p.R361H	SMAD4_ENST00000398417.2_Missense_Mutation_p.R361H|SMAD4_ENST00000588745.1_Missense_Mutation_p.R265H	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	361	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.		R -> C (in JPS; dbSNP:rs80338963). {ECO:0000269|PubMed:9811934}.|R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.R361H(12)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GGAGGAGATCGCTTTTGTTTG	0.413																																					p.R361H												SMAD4,small_intestine,duodenum,Substitution - Missense,+1 	.	50	Whole gene deletion(36)|Substitution - Missense(12)|Unknown(2)	pancreas(26)|large_intestine(13)|lung(3)|breast(3)|upper_aerodigestive_tract(2)|stomach(2)|oesophagus(1)	c.G1082A	18	GRCh37	CM004254	SMAD4	M		.						167.0	138.0	148.0					18																	48591919		2203	4300	6503	46845917	SO:0001583	missense	4089	exon9			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1082G>A	18.37:g.48591919G>A	ENSP00000341551:p.Arg361His		46845917	NM_005359	A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	G	35	5.477304	0.96291	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.98120	-4.73;-4.73	5.86	5.86	0.93980	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.98852	0.9612	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99741	1.1015	10	0.87932	D	0	.	18.9646	0.92691	0.0:0.0:1.0:0.0	.	361	Q13485	SMAD4_HUMAN	H	361	ENSP00000341551:R361H;ENSP00000381452:R361H	ENSP00000341551:R361H	R	+	2	0	SMAD4	46845917	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.828000	0.86729	2.771000	0.95319	0.563000	0.77884	CGC		0.413	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359	
MBD2	8932	broad.mit.edu	37	18	51686176	51686176	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr18:51686176T>C	ENST00000256429.3	-	6	1435	c.1207A>G	c.(1207-1209)Att>Gtt	p.I403V	MBD2_ENST00000579025.1_5'UTR	NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2	403					ATP-dependent chromatin remodeling (GO:0043044)|cellular protein complex assembly (GO:0043623)|maternal behavior (GO:0042711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|histone deacetylase complex (GO:0000118)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|protein domain specific binding (GO:0019904)|satellite DNA binding (GO:0003696)|siRNA binding (GO:0035197)	p.I403V(1)		breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)		TCCATTTCAATATCCATCTCT	0.448																																					p.I403V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1207G	18						.						207.0	173.0	185.0					18																	51686176		2203	4300	6503	49940174	SO:0001583	missense	8932	exon6			AF072242	CCDS11953.1, CCDS45871.1	18q21	2008-08-01			ENSG00000134046	ENSG00000134046			6917	protein-coding gene	gene with protein product		603547				9774669, 10441743	Standard	NM_003927		Approved		uc002lfg.2	Q9UBB5	OTTHUMG00000132705	ENST00000256429.3:c.1207A>G	18.37:g.51686176T>C	ENSP00000256429:p.Ile403Val		49940174	NM_003927	O95242|Q9UIS8	Missense_Mutation	SNP	ENST00000256429.3	37	CCDS11953.1	.	.	.	.	.	.	.	.	.	.	T	13.21	2.170047	0.38315	.	.	ENSG00000134046	ENST00000256429	D	0.98732	-5.1	5.91	-4.02	0.04034	.	0.703054	0.13416	N	0.389512	D	0.94561	0.8248	N	0.22421	0.69	0.32603	N	0.525639	B	0.12013	0.005	B	0.04013	0.001	D	0.86476	0.1788	10	0.59425	D	0.04	-44.4923	8.9574	0.35827	0.0:0.3189:0.4406:0.2405	.	403	Q9UBB5	MBD2_HUMAN	V	403	ENSP00000256429:I403V	ENSP00000256429:I403V	I	-	1	0	MBD2	49940174	0.000000	0.05858	0.008000	0.14137	0.833000	0.47200	-0.726000	0.04936	-0.629000	0.05575	-0.250000	0.11733	ATT		0.448	MBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256003.2	NM_003927	
KIAA1468	57614	broad.mit.edu	37	18	59888721	59888721	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr18:59888721C>T	ENST00000398130.2	+	5	1081	c.849C>T	c.(847-849)aaC>aaT	p.N283N	KIAA1468_ENST00000256858.6_Silent_p.N283N	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	283	LisH. {ECO:0000255|PROSITE- ProRule:PRU00126}.							p.N283N(1)		autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				CAGATGAAAACGATGATCAGG	0.254																																					p.N283N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C849T	18						.						37.0	35.0	36.0					18																	59888721		1804	4051	5855	58039701	SO:0001819	synonymous_variant	57614	exon5			BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.849C>T	18.37:g.59888721C>T			58039701	NM_020854		De_novo_Start_OutOfFrame	SNP	ENST00000398130.2	37	CCDS11979.2																																																																																				0.254	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256187.1	NM_020854	
TYMS	7298	broad.mit.edu	37	18	670822	670822	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr18:670822C>G	ENST00000323274.10	+	5	826	c.687C>G	c.(685-687)agC>agG	p.S229R	TYMS_ENST00000323224.7_Missense_Mutation_p.S195R|TYMS_ENST00000581920.1_3'UTR|TYMS_ENST00000323250.5_Missense_Mutation_p.S146R	NM_001071.2	NP_001062.1	P04818	TYSY_HUMAN	thymidylate synthetase	229					aging (GO:0007568)|cartilage development (GO:0051216)|circadian rhythm (GO:0007623)|deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|developmental growth (GO:0048589)|dTMP biosynthetic process (GO:0006231)|dTTP biosynthetic process (GO:0006235)|dUMP metabolic process (GO:0046078)|G1/S transition of mitotic cell cycle (GO:0000082)|immortalization of host cell by virus (GO:0019088)|intestinal epithelial cell maturation (GO:0060574)|mitotic cell cycle (GO:0000278)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|organ regeneration (GO:0031100)|polysaccharide metabolic process (GO:0005976)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to organophosphorus (GO:0046683)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|response to vitamin A (GO:0033189)|small molecule metabolic process (GO:0044281)|tetrahydrofolate metabolic process (GO:0046653)|uracil metabolic process (GO:0019860)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cofactor binding (GO:0048037)|drug binding (GO:0008144)|folic acid binding (GO:0005542)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|thymidylate synthase activity (GO:0004799)	p.S229R(1)		endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2)	8					Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Methotrexate(DB00563)|Pemetrexed(DB00642)|Pralatrexate(DB06813)|Raltitrexed(DB00293)|Trifluridine(DB00432)|Trimethoprim(DB00440)	ACATCGCCAGCTACGCCCTGC	0.577																																					p.S229R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C687G	18						.						156.0	120.0	132.0					18																	670822		2203	4300	6503	660822	SO:0001583	missense	7298	exon5			X02308	CCDS11821.1	18p11.31-p11.21	2014-09-17			ENSG00000176890	ENSG00000176890	2.1.1.45		12441	protein-coding gene	gene with protein product		188350		TS			Standard	NM_001071		Approved	Tsase, TMS, HsT422	uc010dka.1	P04818	OTTHUMG00000131473	ENST00000323274.10:c.687C>G	18.37:g.670822C>G	ENSP00000315644:p.Ser229Arg		660822	NM_001071	Q8WYK3|Q8WYK4	Missense_Mutation	SNP	ENST00000323274.10	37	CCDS11821.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.967369	0.74131	.	.	ENSG00000176890	ENST00000323274;ENST00000323224;ENST00000323250	.	.	.	5.95	3.93	0.45458	Thymidylate synthase/dCMP hydroxymethylase domain (2);	0.035887	0.85682	D	0.000000	D	0.87728	0.6250	H	0.99535	4.615	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.986;1.0	D	0.88209	0.2889	9	0.87932	D	0	-28.3149	6.7895	0.23692	0.1587:0.6846:0.0:0.1567	.	146;195;229	Q8WYK4;Q8WYK3;P04818	.;.;TYSY_HUMAN	R	229;195;146	.	ENSP00000314727:S195R	S	+	3	2	TYMS	660822	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	2.503000	0.45407	1.495000	0.48549	0.655000	0.94253	AGC		0.577	TYMS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254316.1	NM_001071	
ZCCHC2	54877	broad.mit.edu	37	18	60242706	60242706	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr18:60242706T>C	ENST00000269499.5	+	13	3810	c.3392T>C	c.(3391-3393)gTc>gCc	p.V1131A	ZCCHC2_ENST00000586834.1_Missense_Mutation_p.V810A	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	1131						cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)	p.V1131A(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						AATGGGAATGTCTCATGTTAC	0.483																																					p.V1131A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3392C	18						.						120.0	118.0	118.0					18																	60242706		2003	4185	6188	58393686	SO:0001583	missense	54877	exon13			AB051531	CCDS45880.1	18q21.33	2012-04-19			ENSG00000141664	ENSG00000141664		"""Zinc fingers, CCHC domain containing"""	22916	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 49"""	C18orf49		11214970	Standard	NM_017742		Approved	FLJ20281, KIAA1744, FLJ20222	uc002lip.4	Q9C0B9		ENST00000269499.5:c.3392T>C	18.37:g.60242706T>C	ENSP00000269499:p.Val1131Ala		58393686	NM_017742	B2RPG6|Q8N3S1|Q9NXF6	Missense_Mutation	SNP	ENST00000269499.5	37	CCDS45880.1	.	.	.	.	.	.	.	.	.	.	T	17.50	3.404173	0.62288	.	.	ENSG00000141664	ENST00000269499	T	0.76578	-1.03	5.57	4.4	0.53042	Zinc finger, CCHC retroviral-type (1);	0.000000	0.64402	D	0.000003	T	0.71592	0.3358	L	0.46157	1.445	0.46701	D	0.999166	B	0.15719	0.014	B	0.20184	0.028	T	0.67783	-0.5581	10	0.56958	D	0.05	-6.7594	11.7261	0.51710	0.0:0.0693:0.0:0.9307	.	1131	Q9C0B9	ZCHC2_HUMAN	A	1131	ENSP00000269499:V1131A	ENSP00000269499:V1131A	V	+	2	0	ZCCHC2	58393686	1.000000	0.71417	0.070000	0.20053	0.982000	0.71751	4.438000	0.59961	1.042000	0.40150	0.533000	0.62120	GTC		0.483	ZCCHC2-005	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450083.1	NM_017742	
RBFA	79863	broad.mit.edu	37	18	77806128	77806128	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr18:77806128C>T	ENST00000306735.5	+	7	1143	c.1005C>T	c.(1003-1005)ggC>ggT	p.G335G	RP11-795F19.5_ENST00000564012.1_Intron|RBFA_ENST00000262197.7_3'UTR|RP11-795F19.5_ENST00000569722.1_Intron	NM_024805.2	NP_079081.2	Q8N0V3	RBFA_HUMAN	ribosome binding factor A (putative)	335					rRNA processing (GO:0006364)	mitochondrion (GO:0005739)		p.G335G(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						CAGAGGATGGCCACAGCTGCG	0.577																																					p.G335G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1005T	18						.						58.0	48.0	51.0					18																	77806128		2203	4300	6503	75907116	SO:0001819	synonymous_variant	79863	exon7			BC014195	CCDS12021.1, CCDS54194.1	18q23	2010-10-21	2010-10-21	2010-10-21	ENSG00000101546	ENSG00000101546			26120	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 22"""	C18orf22		12477932	Standard	NM_024805		Approved	FLJ21172, HsT169	uc002lns.3	Q8N0V3	OTTHUMG00000132923	ENST00000306735.5:c.1005C>T	18.37:g.77806128C>T			75907116	NM_024805	Q6PF07|Q8WZ65|Q9H776	Silent	SNP	ENST00000306735.5	37	CCDS12021.1																																																																																				0.577	RBFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256436.2	NM_024805	
ZNF516	9658	broad.mit.edu	37	18	74154506	74154506	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr18:74154506delC	ENST00000443185.2	-	3	822	c.505delG	c.(505-507)gagfs	p.E169fs	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	169					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.E169fs*48(1)|p.E169fs*18(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GCCTTGGCCTCCCCCGGGGCG	0.682																																					p.E169fs												.	.	2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	large_intestine(2)	c.505delG	18						.						12.0	15.0	14.0					18																	74154506		2038	4154	6192	72283494	SO:0001589	frameshift_variant	9658	exon3			D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.505delG	18.37:g.74154506delC	ENSP00000394757:p.Glu169fs		72283494	NM_014643		Frame_Shift_Del	DEL	ENST00000443185.2	37																																																																																					0.682	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643	
PARD6G	84552	broad.mit.edu	37	18	77918230	77918230	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr18:77918230G>A	ENST00000353265.3	-	3	752	c.555C>T	c.(553-555)caC>caT	p.H185H	AC139100.2_ENST00000587254.1_Intron|AC139100.2_ENST00000586421.1_Intron|AC139100.2_ENST00000589574.1_Intron|AC139100.2_ENST00000585422.1_Intron	NM_032510.3	NP_115899.1	Q9BYG4	PAR6G_HUMAN	par-6 family cell polarity regulator gamma	185	Interaction with PARD3 and CDC42. {ECO:0000250}.|PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)		p.H185H(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	8		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		TCTCCAGCCCGTGCGGGGTCA	0.706																																					p.H185H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C555T	18						.						21.0	22.0	22.0					18																	77918230		2198	4297	6495	76019221	SO:0001819	synonymous_variant	84552	exon3				CCDS12022.1	18q23	2013-08-28	2013-08-28		ENSG00000178184	ENSG00000178184			16076	protein-coding gene	gene with protein product		608976	"""par-6 (partitioning defective 6, C.elegans) homolog gamma"", ""par-6 partitioning defective 6 homolog gamma (C. elegans)"""			11260256	Standard	NM_032510		Approved	PAR-6G, PAR6gamma	uc002lny.3	Q9BYG4	OTTHUMG00000132922	ENST00000353265.3:c.555C>T	18.37:g.77918230G>A			76019221	NM_032510	A8QM57	Silent	SNP	ENST00000353265.3	37	CCDS12022.1																																																																																				0.706	PARD6G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256435.2	NM_032510	
OR7G2	390882	broad.mit.edu	37	19	9213598	9213599	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:9213598_9213599insA	ENST00000305456.2	-	1	383_384	c.384_385insT	c.(382-387)tttgctfs	p.A129fs		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	108						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A129fs*14(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						TCCAAGCCAGCAAAAAACAAGA	0.51																																					p.A129fs	Esophageal Squamous(67;143 1448 28637 40648)											.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.385_386insT	19						.																																			9074599	SO:0001589	frameshift_variant	390882	exon1				CCDS32897.1	19p13.2	2013-09-24			ENSG00000170923	ENSG00000170923		"""GPCR / Class A : Olfactory receptors"""	8466	protein-coding gene	gene with protein product							Standard	NM_001005193		Approved	OST260	uc010xkk.2	Q8NG99	OTTHUMG00000179931	ENST00000305456.2:c.385dupT	19.37:g.9213604_9213604dupA	ENSP00000303822:p.Ala129fs		9074598	NM_001005193	Q6IFJ4|Q96RA0	Frame_Shift_Ins	INS	ENST00000305456.2	37	CCDS32897.1																																																																																				0.510	OR7G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448994.1		
KRI1	65095	broad.mit.edu	37	19	10670300	10670300	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:10670300G>A	ENST00000312962.6	-	11	1049	c.1030C>T	c.(1030-1032)Cga>Tga	p.R344*	KRI1_ENST00000537964.1_5'Flank|KRI1_ENST00000361821.5_Nonsense_Mutation_p.R340*	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	338	Glu-rich.					nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.R344*(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CTCTTCTTTCGCTCCCGAGTC	0.627																																					p.R344X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1030T	19						.						98.0	98.0	98.0					19																	10670300		2203	4300	6503	10531300	SO:0001587	stop_gained	65095	exon11				CCDS12242.1	19p13.2	2008-02-05			ENSG00000129347	ENSG00000129347			25769	protein-coding gene	gene with protein product						12878157	Standard	NM_023008		Approved	FLJ12949	uc002moy.1	Q8N9T8	OTTHUMG00000150343	ENST00000312962.6:c.1030C>T	19.37:g.10670300G>A	ENSP00000320917:p.Arg344*		10531300	NM_023008	Q2M1R5|Q2M1R7|Q7L5J7|Q96G92|Q9BU50|Q9H6I1|Q9H978	Nonsense_Mutation	SNP	ENST00000312962.6	37	CCDS12242.1	.	.	.	.	.	.	.	.	.	.	G	36	5.890595	0.97074	.	.	ENSG00000129347	ENST00000312962;ENST00000361821;ENST00000541101	.	.	.	5.1	4.05	0.47172	.	0.056728	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.7621	11.7997	0.52120	0.0:0.0:0.6808:0.3192	.	.	.	.	X	344;340;344	.	ENSP00000320917:R344X	R	-	1	2	KRI1	10531300	1.000000	0.71417	0.988000	0.46212	0.722000	0.41435	3.862000	0.56009	1.125000	0.41998	0.585000	0.79938	CGA		0.627	KRI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317705.1	NM_023008	
SLC44A2	57153	broad.mit.edu	37	19	10745531	10745531	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:10745531A>G	ENST00000335757.5	+	11	1299	c.923A>G	c.(922-924)tAc>tGc	p.Y308C	SLC44A2_ENST00000407327.4_Missense_Mutation_p.Y306C|SLC44A2_ENST00000586078.1_Missense_Mutation_p.Y308C			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	308					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|signal transducer activity (GO:0004871)	p.Y308C(1)		NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	TTCCGGGTGTACCTGCACTTA	0.587																																					p.Y308C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A923G	19						.						154.0	139.0	144.0					19																	10745531		2203	4300	6503	10606531	SO:0001583	missense	57153	exon11			AF070636	CCDS12245.1, CCDS54216.1	19p13.2	2014-08-12	2013-07-17		ENSG00000129353	ENSG00000129353		"""Solute carriers"""	17292	protein-coding gene	gene with protein product		606106				10677542, 15715662	Standard	NM_001145056		Approved	CTL2	uc002mpf.3	Q8IWA5	OTTHUMG00000180585	ENST00000335757.5:c.923A>G	19.37:g.10745531A>G	ENSP00000336888:p.Tyr308Cys		10606531	NM_020428	B2RBB1|B3KNH3|B4DFJ0|F2Q9D7|Q658V1|Q658Z2|Q6PJV7|Q8N2F0|Q9NY68	Missense_Mutation	SNP	ENST00000335757.5	37	CCDS12245.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.327740	0.81690	.	.	ENSG00000129353	ENST00000407327;ENST00000335757;ENST00000380614	T;T	0.12361	2.69;2.69	5.46	5.46	0.80206	.	0.118029	0.64402	D	0.000013	T	0.41419	0.1158	M	0.82823	2.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.984;0.996	T	0.42799	-0.9430	10	0.87932	D	0	-25.0869	14.5069	0.67758	1.0:0.0:0.0:0.0	.	308;308;306	Q8IWA5-2;Q8IWA5;Q8IWA5-3	.;CTL2_HUMAN;.	C	306;308;308	ENSP00000385135:Y306C;ENSP00000336888:Y308C	ENSP00000336888:Y308C	Y	+	2	0	SLC44A2	10606531	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.439000	0.80444	2.078000	0.62432	0.455000	0.32223	TAC		0.587	SLC44A2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452045.1		
DHPS	1725	broad.mit.edu	37	19	12786945	12786945	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:12786945G>A	ENST00000210060.7	-	8	1035	c.900C>T	c.(898-900)gcC>gcT	p.A300A	DHPS_ENST00000594424.1_Silent_p.A258A|DHPS_ENST00000351660.5_Intron	NM_001930.3	NP_001921.1	P49366	DHYS_HUMAN	deoxyhypusine synthase	300					cellular protein metabolic process (GO:0044267)|deoxyhypusine biosynthetic process from spermidine (GO:0050983)|glucose homeostasis (GO:0042593)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell proliferation (GO:0042102)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|translation (GO:0006412)	cytosol (GO:0005829)	deoxyhypusine synthase activity (GO:0034038)	p.A300A(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8						CAGCGTAGTCGGCCCCGTTCC	0.627											OREG0025272	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A300A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C900T	19						.						23.0	19.0	21.0					19																	12786945		2203	4299	6502	12647945	SO:0001819	synonymous_variant	1725	exon8			U79262	CCDS12276.1, CCDS12277.1, CCDS59354.1	19p13.2	2011-11-24			ENSG00000095059	ENSG00000095059			2869	protein-coding gene	gene with protein product	"""migration-inducing gene 13"""	600944				7673224	Standard	NM_001930		Approved	MIG13	uc002muh.2	P49366		ENST00000210060.7:c.900C>T	19.37:g.12786945G>A		682	12647945	NM_001930	A8K688|M0R1I5|Q13184|Q13276|Q9UDG0	Silent	SNP	ENST00000210060.7	37	CCDS12276.1																																																																																				0.627	DHPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462708.1	NM_001930	
GCDH	2639	broad.mit.edu	37	19	13008220	13008220	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:13008220G>T	ENST00000222214.5	+	10	1271	c.1060G>T	c.(1060-1062)Ggc>Tgc	p.G354C	GCDH_ENST00000591470.1_Missense_Mutation_p.G354C|GCDH_ENST00000422947.2_Missense_Mutation_p.G310C|GCDH_ENST00000457854.1_Missense_Mutation_p.G354C			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	354			G -> R (in GA1).|G -> S (in GA1).		cellular nitrogen compound metabolic process (GO:0034641)|fatty acid oxidation (GO:0019395)|fatty-acyl-CoA biosynthetic process (GO:0046949)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan metabolic process (GO:0006568)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|glutaryl-CoA dehydrogenase activity (GO:0004361)	p.G354C(1)		autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19					Flavin adenine dinucleotide(DB03147)	CCTGCAGCTCGGCCGCTTGAA	0.617																																					p.G354C	GBM(123;875 1636 7726 16444 26754)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1060T	19	GRCh37	CM980873|CM980874	GCDH	M		.						41.0	41.0	41.0					19																	13008220		2203	4300	6503	12869220	SO:0001583	missense	2639	exon10			AF012342	CCDS12286.1	19p13.2	2010-04-30	2010-04-30			ENSG00000105607	1.3.99.7		4189	protein-coding gene	gene with protein product		608801	"""glutaryl-Coenzyme A dehydrogenase"""			1438360, 8088809	Standard	NM_000159		Approved	ACAD5	uc002mvq.4	Q92947		ENST00000222214.5:c.1060G>T	19.37:g.13008220G>T	ENSP00000222214:p.Gly354Cys		12869220	NM_013976	A8K2Z2|O14719	Missense_Mutation	SNP	ENST00000222214.5	37	CCDS12286.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.736380	0.89482	.	.	ENSG00000105607	ENST00000457854;ENST00000222214;ENST00000421816;ENST00000422947	D;D;D	0.96041	-3.89;-3.89;-3.89	5.47	5.47	0.80525	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.98178	0.9398	M	0.91510	3.215	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;0.999;0.999;1.0	D	0.99129	1.0852	10	0.87932	D	0	.	16.8123	0.85724	0.0:0.0:1.0:0.0	.	310;190;321;354;354	B4DK85;B4DUY0;B4DQF2;Q92947;Q92947-2	.;.;.;GCDH_HUMAN;.	C	354;354;321;310	ENSP00000394872:G354C;ENSP00000222214:G354C;ENSP00000394821:G310C	ENSP00000222214:G354C	G	+	1	0	GCDH	12869220	1.000000	0.71417	0.986000	0.45419	0.855000	0.48748	6.406000	0.73276	2.575000	0.86900	0.563000	0.77884	GGC		0.617	GCDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451897.1		
CC2D1A	54862	broad.mit.edu	37	19	14034583	14034583	+	Silent	SNP	G	G	A	rs576358752	byFrequency	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:14034583G>A	ENST00000318003.7	+	17	2140	c.1899G>A	c.(1897-1899)acG>acA	p.T633T	CC2D1A_ENST00000589606.1_Silent_p.T633T	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	633					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|signal transducer activity (GO:0004871)	p.T633T(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GTCTCCCCACGCCCACCGCCC	0.622													G|||	2	0.000399361	0.0	0.0	5008	,	,		17765	0.0		0.0	False		,,,				2504	0.002				p.T633T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1899A	19						.						62.0	68.0	66.0					19																	14034583		2011	4169	6180	13895583	SO:0001819	synonymous_variant	54862	exon17			AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"""mental retardation, nonsyndromic, autosomal recessive, 3"""	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.1899G>A	19.37:g.14034583G>A			13895583	NM_017721	Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Silent	SNP	ENST00000318003.7	37	CCDS42512.1																																																																																				0.622	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457954.1	NM_017721	
CD97	976	broad.mit.edu	37	19	14517194	14517194	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:14517194G>A	ENST00000242786.5	+	15	1953	c.1873G>A	c.(1873-1875)Gcc>Acc	p.A625T	CD97_ENST00000357355.3_Missense_Mutation_p.A576T|CD97_ENST00000358600.3_Missense_Mutation_p.A532T|CTC-548K16.5_ENST00000590626.1_RNA	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	625					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)	p.A625T(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CTGTTTCCTGGCCGCCTTCTG	0.697											OREG0025312	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A576T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1726A	19						.						59.0	44.0	49.0					19																	14517194		2199	4296	6495	14378194	SO:0001583	missense	976	exon14				CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	1711	protein-coding gene	gene with protein product	"""leukocyte antigen CD97"", ""seven-span transmembrane protein"", ""seven-transmembrane, heterodimeric receptor associated with inflammation"", ""seven transmembrane helix receptor"""	601211	"""CD97 antigen"""			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.1873G>A	19.37:g.14517194G>A	ENSP00000242786:p.Ala625Thr	695	14378194	NM_001025160	A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Missense_Mutation	SNP	ENST00000242786.5	37	CCDS32929.1	.	.	.	.	.	.	.	.	.	.	G	32	5.112145	0.94339	.	.	ENSG00000123146	ENST00000242786;ENST00000357355;ENST00000358600;ENST00000393059	T;T;T	0.39592	1.07;1.07;1.07	4.57	3.53	0.40419	GPCR, family 2-like (1);	0.254751	0.20685	N	0.087574	T	0.56470	0.1987	M	0.63428	1.95	0.37664	D	0.922881	D;D;P	0.62365	0.983;0.991;0.942	P;D;P	0.64144	0.897;0.922;0.874	T	0.63019	-0.6730	10	0.87932	D	0	.	10.3577	0.43974	0.0986:0.0:0.9014:0.0	.	532;576;625	P48960-2;P48960-3;P48960	.;.;CD97_HUMAN	T	625;576;532;575	ENSP00000242786:A625T;ENSP00000349918:A576T;ENSP00000351413:A532T	ENSP00000242786:A625T	A	+	1	0	CD97	14378194	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.226000	0.72277	0.922000	0.37019	0.505000	0.49811	GCC		0.697	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2	NM_078481	
PKN1	5585	broad.mit.edu	37	19	14582527	14582527	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:14582527C>T	ENST00000242783.6	+	22	2925	c.2760C>T	c.(2758-2760)gaC>gaT	p.D920D	PKN1_ENST00000342216.4_Silent_p.D926D	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	920	AGC-kinase C-terminal.				activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)	p.D920D(1)		breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						CGCCCCGCGACGCGCGGCCCC	0.736																																					p.D926D	NSCLC(185;2539 2965 10733 52867)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2778T	19						.						6.0	9.0	8.0					19																	14582527		1979	4092	6071	14443527	SO:0001819	synonymous_variant	5585	exon22			S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"""protein kinase C-like 1"""	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.2760C>T	19.37:g.14582527C>T			14443527	NM_213560	A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Silent	SNP	ENST00000242783.6	37	CCDS42513.1																																																																																				0.736	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1	NM_002741, NM_213560	
TECR	9524	broad.mit.edu	37	19	14674714	14674714	+	Splice_Site	SNP	C	C	T	rs545666123		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:14674714C>T	ENST00000215567.5	+	5	403	c.266C>T	c.(265-267)aCg>aTg	p.T89M	TECR_ENST00000596073.1_5'UTR|TECR_ENST00000600083.1_5'UTR|TECR_ENST00000436007.2_Splice_Site_p.T104M	NM_138501.5	NP_612510.1	Q9NZ01	TECR_HUMAN	trans-2,3-enoyl-CoA reductase	89					cellular lipid metabolic process (GO:0044255)|fatty acid elongation (GO:0030497)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|nucleus (GO:0005634)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(1)|large_intestine(1)|ovary(1)	3						AGCTGGGTGACGGTGAGTCCT	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		15588	0.0		0.001	False		,,,				2504	0.0				p.T89M												.	.	0			c.C266T	19						.						72.0	75.0	74.0					19																	14674714		2203	4300	6503	14535714	SO:0001630	splice_region_variant	9524	exon5			AK001416	CCDS12313.1	19p13.12	2014-05-27	2009-07-21	2009-07-21	ENSG00000099797	ENSG00000099797			4551	protein-coding gene	gene with protein product		610057	"""glycoprotein, synaptic 2"""	SC2, GPSN2		9653160, 12482854	Standard	NM_138501		Approved	TER, MRT14	uc002mza.3	Q9NZ01		ENST00000215567.5:c.267+1C>T	19.37:g.14674714C>T			14535714	NM_138501	B2RD55|O75350|Q6IBB2|Q9BWK3|Q9Y6P0	Missense_Mutation	SNP	ENST00000215567.5	37	CCDS12313.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.642002	0.67244	.	.	ENSG00000099797	ENST00000215567;ENST00000436007	T;T	0.34859	1.37;1.34	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.30792	0.0776	L	0.52573	1.65	0.80722	D	1	B;B;P	0.36010	0.39;0.39;0.532	B;B;B	0.20384	0.029;0.029;0.029	T	0.16217	-1.0410	10	0.49607	T	0.09	-17.3007	16.244	0.82431	0.0:1.0:0.0:0.0	.	89;104;89	B3KM97;B3KSQ1;Q9NZ01	.;.;TECR_HUMAN	M	89;104	ENSP00000215567:T89M;ENSP00000397206:T104M	ENSP00000215567:T89M	T	+	2	0	TECR	14535714	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.191000	0.77763	2.438000	0.82558	0.455000	0.32223	ACG		0.612	TECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466000.1	NM_138501	Missense_Mutation
SLC1A6	6511	broad.mit.edu	37	19	15061177	15061177	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:15061177C>T	ENST00000221742.3	-	9	1532	c.1525G>A	c.(1525-1527)Gta>Ata	p.V509I	SLC1A6_ENST00000430939.2_Missense_Mutation_p.V445I|SLC1A6_ENST00000600144.1_Missense_Mutation_p.V431I	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	509					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.V509I(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						TCCCCCAGTACGTTGGTCATT	0.577																																					p.V509I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1525A	19						.						56.0	53.0	54.0					19																	15061177		2203	4300	6503	14922177	SO:0001583	missense	6511	exon9				CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.1525G>A	19.37:g.15061177C>T	ENSP00000221742:p.Val509Ile		14922177	NM_005071	Q8N753	Missense_Mutation	SNP	ENST00000221742.3	37	CCDS12321.1	.	.	.	.	.	.	.	.	.	.	c	25.3	4.619932	0.87460	.	.	ENSG00000105143	ENST00000430939;ENST00000221742	T;T	0.67523	-0.27;-0.27	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.78830	0.4345	L	0.55213	1.73	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.954	T	0.80457	-0.1374	10	0.87932	D	0	-29.072	16.7235	0.85416	0.0:1.0:0.0:0.0	.	445;509	E7EV13;P48664	.;EAA4_HUMAN	I	445;509	ENSP00000409386:V445I;ENSP00000221742:V509I	ENSP00000221742:V509I	V	-	1	0	SLC1A6	14922177	1.000000	0.71417	0.929000	0.37066	0.613000	0.37349	7.604000	0.82830	2.555000	0.86185	0.544000	0.68410	GTA		0.577	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071	
AKAP8	10270	broad.mit.edu	37	19	15483146	15483146	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:15483146C>A	ENST00000269701.2	-	6	934	c.874G>T	c.(874-876)Ggg>Tgg	p.G292W		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	292					mitotic chromosome condensation (GO:0007076)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	condensed chromosome (GO:0000793)|female pronucleus (GO:0001939)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.G292W(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						CGGTCAAACCCTCTCCTCTTG	0.547																																					p.G292W	GBM(190;1671 2163 3274 27186 30476)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G874T	19						.						88.0	70.0	76.0					19																	15483146		2203	4300	6503	15344146	SO:0001583	missense	10270	exon6			Y11997	CCDS12329.1	19p13.12	2012-05-16			ENSG00000105127	ENSG00000105127		"""A-kinase anchor proteins"""	378	protein-coding gene	gene with protein product	"""A-kinase anchor protein, 95kDa"""	604692				9473338	Standard	NM_005858		Approved	AKAP95, DKFZp586B1222	uc002nav.3	O43823		ENST00000269701.2:c.874G>T	19.37:g.15483146C>A	ENSP00000269701:p.Gly292Trp		15344146	NM_005858		Missense_Mutation	SNP	ENST00000269701.2	37	CCDS12329.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.901477	0.72754	.	.	ENSG00000105127	ENST00000269701;ENST00000537303	T	0.45276	0.9	5.44	5.44	0.79542	.	0.000000	0.56097	D	0.000039	T	0.61211	0.2329	L	0.57536	1.79	0.37988	D	0.933824	D;D	0.76494	0.999;0.999	D;D	0.74674	0.984;0.984	T	0.66677	-0.5863	10	0.72032	D	0.01	-26.1956	16.1722	0.81825	0.0:1.0:0.0:0.0	.	292;292	Q8NE02;O43823	.;AKAP8_HUMAN	W	292;41	ENSP00000269701:G292W	ENSP00000269701:G292W	G	-	1	0	AKAP8	15344146	0.878000	0.30173	0.998000	0.56505	0.905000	0.53344	3.175000	0.50855	2.549000	0.85964	0.563000	0.77884	GGG		0.547	AKAP8-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461293.3	NM_005858	
PGLYRP2	114770	broad.mit.edu	37	19	15586720	15586720	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:15586720G>A	ENST00000340880.4	-	2	1241	c.761C>T	c.(760-762)gCc>gTc	p.A254V	PGLYRP2_ENST00000292609.4_Missense_Mutation_p.A254V	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	254					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GGTCCGAGGGGCAGAGAGCTG	0.607																																					p.A254V												.	.	0			c.C761T	19						.						37.0	37.0	37.0					19																	15586720		2203	4300	6503	15447720	SO:0001583	missense	114770	exon2			AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein L precursor"", ""peptidoglycan recognition protein-like"", ""N-acetylmuramoyl-L-alanine amidase"""	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.761C>T	19.37:g.15586720G>A	ENSP00000345968:p.Ala254Val		15447720	NM_052890	A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Missense_Mutation	SNP	ENST00000340880.4	37	CCDS12330.2	.	.	.	.	.	.	.	.	.	.	G	4.059	0.008666	0.07912	.	.	ENSG00000161031	ENST00000340880;ENST00000292609	T;T	0.04654	3.59;3.58	5.31	-3.07	0.05363	.	1.306580	0.05712	N	0.596078	T	0.04182	0.0116	L	0.39566	1.225	0.09310	N	1	B;B	0.20459	0.045;0.002	B;B	0.19666	0.026;0.004	T	0.46775	-0.9167	10	0.23891	T	0.37	-10.2663	4.2877	0.10863	0.2549:0.0:0.247:0.4981	.	254;254	Q96PD5-2;Q96PD5	.;PGRP2_HUMAN	V	254	ENSP00000345968:A254V;ENSP00000292609:A254V	ENSP00000292609:A254V	A	-	2	0	PGLYRP2	15447720	0.000000	0.05858	0.013000	0.15412	0.086000	0.17979	-0.585000	0.05794	-0.319000	0.08652	-0.310000	0.09108	GCC		0.607	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319626.1	NM_052890	
TMEM38A	79041	broad.mit.edu	37	19	16790828	16790828	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:16790828C>T	ENST00000187762.2	+	2	249	c.158C>T	c.(157-159)gCg>gTg	p.A53V		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	53						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)	p.A53V(2)		central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						CACCCCATCGCGTCCTGGCTG	0.602																																					p.A53V												.	.	2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	c.C158T	19						.						54.0	40.0	45.0					19																	16790828		2203	4300	6503	16651828	SO:0001583	missense	79041	exon2			AK025981	CCDS12349.1	19p13.11	2013-05-23				ENSG00000072954			28462	protein-coding gene	gene with protein product		611235				17611541	Standard	NM_024074		Approved	MGC3169, TRIC-A	uc002nes.3	Q9H6F2		ENST00000187762.2:c.158C>T	19.37:g.16790828C>T	ENSP00000187762:p.Ala53Val		16651828	NM_024074	A8K9P9	Missense_Mutation	SNP	ENST00000187762.2	37	CCDS12349.1	.	.	.	.	.	.	.	.	.	.	c	19.37	3.813899	0.70912	.	.	ENSG00000072954	ENST00000187762	.	.	.	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.66366	0.2782	L	0.57536	1.79	0.80722	D	1	D	0.56287	0.975	P	0.52554	0.702	T	0.67313	-0.5702	9	0.46703	T	0.11	-14.3296	17.9316	0.88999	0.0:1.0:0.0:0.0	.	53	Q9H6F2	TM38A_HUMAN	V	53	.	ENSP00000187762:A53V	A	+	2	0	TMEM38A	16651828	1.000000	0.71417	0.380000	0.26093	0.076000	0.17211	7.371000	0.79600	2.474000	0.83562	0.561000	0.74099	GCG		0.602	TMEM38A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462841.1	NM_024074	
NWD1	284434	broad.mit.edu	37	19	16908590	16908590	+	Missense_Mutation	SNP	C	C	T	rs568405169		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:16908590C>T	ENST00000552788.1	+	14	3352	c.3352C>T	c.(3352-3354)Cgc>Tgc	p.R1118C	NWD1_ENST00000379808.3_Missense_Mutation_p.R1118C|NWD1_ENST00000523826.1_Missense_Mutation_p.R912C|NWD1_ENST00000339803.6_Missense_Mutation_p.R983C|NWD1_ENST00000549814.1_Missense_Mutation_p.R1118C|NWD1_ENST00000524140.2_Missense_Mutation_p.R1118C			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1118							ATP binding (GO:0005524)	p.R983C(1)		NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GAGGGGCTTTCGCCGATTCAT	0.537													C|||	1	0.000199681	0.0	0.0	5008	,	,		18625	0.001		0.0	False		,,,				2504	0.0				p.R1118C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3352T	19						.						231.0	215.0	220.0					19																	16908590		2203	4300	6503	16769590	SO:0001583	missense	284434	exon16			BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.3352C>T	19.37:g.16908590C>T	ENSP00000447224:p.Arg1118Cys		16769590	NM_001007525	C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37		.	.	.	.	.	.	.	.	.	.	C	7.579	0.668383	0.14776	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.70986	-0.25;-0.53;-0.25;3.46;3.46;3.46	4.62	1.21	0.21127	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.496362	0.20905	N	0.083567	T	0.51075	0.1653	N	0.08118	0	0.09310	N	1	B;D;D	0.63880	0.0;0.993;0.988	B;P;B	0.50896	0.0;0.653;0.353	T	0.43734	-0.9373	10	0.38643	T	0.18	-7.5581	3.5061	0.07691	0.3499:0.4576:0.0:0.1925	.	1118;1118;983	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	C	983;1118;1118;1118;912;1118;983	ENSP00000428579:R1118C;ENSP00000447548:R1118C;ENSP00000369136:R1118C;ENSP00000428955:R912C;ENSP00000447224:R1118C;ENSP00000340159:R983C	ENSP00000340159:R983C	R	+	1	0	NWD1	16769590	0.069000	0.21087	0.015000	0.15790	0.011000	0.07611	0.603000	0.24149	0.165000	0.19558	-0.215000	0.12644	CGC		0.537	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525	
ANO8	57719	broad.mit.edu	37	19	17435982	17435982	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:17435982C>T	ENST00000159087.4	-	17	3033	c.2875G>A	c.(2875-2877)Ggg>Agg	p.G959R		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	959					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.G959R(1)		autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						CGTTCAGGCCCGTGGCCACCC	0.662																																					p.G959R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2875A	19						.						47.0	46.0	46.0					19																	17435982		2203	4300	6503	17296982	SO:0001583	missense	57719	exon17			AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	29329	protein-coding gene	gene with protein product		610216	"""KIAA1623"", ""transmembrane protein 16H"""	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.2875G>A	19.37:g.17435982C>T	ENSP00000159087:p.Gly959Arg		17296982	NM_020959	A6NIJ0	Missense_Mutation	SNP	ENST00000159087.4	37	CCDS32949.1	.	.	.	.	.	.	.	.	.	.	C	6.695	0.496892	0.12762	.	.	ENSG00000074855	ENST00000159087	T	0.67345	-0.26	3.79	0.423	0.16463	.	1.168590	0.06693	U	0.770072	T	0.59742	0.2216	L	0.42245	1.32	0.09310	N	1	D	0.58268	0.982	P	0.47102	0.537	T	0.50346	-0.8839	10	0.33141	T	0.24	.	5.0167	0.14339	0.0:0.6048:0.18:0.2152	.	959	Q9HCE9	ANO8_HUMAN	R	959	ENSP00000159087:G959R	ENSP00000159087:G959R	G	-	1	0	ANO8	17296982	0.007000	0.16637	0.002000	0.10522	0.005000	0.04900	1.004000	0.29822	0.351000	0.24027	-0.334000	0.08254	GGG		0.662	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462943.1	XM_050644	
GTPBP3	84705	broad.mit.edu	37	19	17449382	17449382	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:17449382C>T	ENST00000324894.8	+	4	491	c.423C>T	c.(421-423)ggC>ggT	p.G141G	GTPBP3_ENST00000361619.5_Silent_p.G163G|GTPBP3_ENST00000598038.1_3'UTR|GTPBP3_ENST00000358792.7_Silent_p.G141G|GTPBP3_ENST00000600625.1_Silent_p.G141G	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial)	141					tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.G141G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						CGGAGGCAGGCGAGTTCACCA	0.672																																					p.G141G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C423T	19						.						47.0	52.0	50.0					19																	17449382		2203	4299	6502	17310382	SO:0001819	synonymous_variant	84705	exon4			AF360742	CCDS32950.1, CCDS32951.1, CCDS56088.1, CCDS59364.1	19p13.2	2008-02-05				ENSG00000130299			14880	protein-coding gene	gene with protein product		608536				1290633	Standard	NM_001128855		Approved	MSS1, THDF1, GTPBG3, MTGP1, FLJ14700	uc010xpo.2	Q969Y2		ENST00000324894.8:c.423C>T	19.37:g.17449382C>T			17310382	NM_032620	A6NFH1|A6NIG5|A6NKR4|A8K7B4|B7Z4V8|Q8TCY6|Q8WUW9|Q969G4|Q9BX61	Silent	SNP	ENST00000324894.8	37	CCDS32951.1																																																																																				0.672	GTPBP3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463624.1	NM_032620	
UNC13A	23025	broad.mit.edu	37	19	17759324	17759324	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:17759324C>T	ENST00000519716.2	-	16	1731	c.1732G>A	c.(1732-1734)Gcg>Acg	p.A578T	UNC13A_ENST00000252773.7_Missense_Mutation_p.A578T|UNC13A_ENST00000552293.1_Missense_Mutation_p.A578T|UNC13A_ENST00000551649.1_Missense_Mutation_p.A578T|UNC13A_ENST00000428389.2_Missense_Mutation_p.A666T|UNC13A_ENST00000550896.1_Missense_Mutation_p.A576T	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	578					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)	p.A578T(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CCCTGCCTCGCGATGCCCCAC	0.652																																					p.A578T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1732A	19						.						91.0	96.0	95.0					19																	17759324		2199	4300	6499	17620324	SO:0001583	missense	23025	exon15			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.1732G>A	19.37:g.17759324C>T	ENSP00000429562:p.Ala578Thr		17620324	NM_001080421	E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	c	34	5.305547	0.95601	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	D;D;D;D;D;D	0.93307	-3.2;-3.2;-3.2;-3.2;-3.2;-3.2	4.35	4.35	0.52113	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.000000	0.85682	U	0.000000	D	0.93625	0.7964	L	0.31065	0.9	0.54753	D	0.99998	D	0.71674	0.998	D	0.67231	0.95	D	0.94079	0.7342	10	0.54805	T	0.06	-26.0269	14.6907	0.69083	0.0:1.0:0.0:0.0	.	578	Q9UPW8	UN13A_HUMAN	T	578;666;578;578;578;576	ENSP00000429562:A578T;ENSP00000400409:A666T;ENSP00000252773:A578T;ENSP00000447236:A578T;ENSP00000447572:A578T;ENSP00000446831:A576T	ENSP00000252773:A578T	A	-	1	0	UNC13A	17620324	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.589000	0.82641	2.126000	0.65437	0.486000	0.48141	GCG		0.652	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604	
UNC13A	23025	broad.mit.edu	37	19	17777480	17777480	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:17777480G>A	ENST00000519716.2	-	7	501	c.502C>T	c.(502-504)Cct>Tct	p.P168S	UNC13A_ENST00000252773.7_Missense_Mutation_p.P168S|UNC13A_ENST00000552293.1_Missense_Mutation_p.P168S|UNC13A_ENST00000551649.1_Missense_Mutation_p.P168S|UNC13A_ENST00000428389.2_Missense_Mutation_p.P256S|UNC13A_ENST00000550896.1_Missense_Mutation_p.P168S	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	168					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)	p.P168S(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CTGGGGACAGGCAGAGGCTTG	0.532																																					p.P168S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C502T	19						.						71.0	72.0	72.0					19																	17777480		1951	4142	6093	17638480	SO:0001583	missense	23025	exon7			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.502C>T	19.37:g.17777480G>A	ENSP00000429562:p.Pro168Ser		17638480	NM_001080421	E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	G	14.84	2.655766	0.47467	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.81078	-1.43;-1.45;-1.43;-1.31;-1.3;-1.43	4.14	3.1	0.35709	.	0.246767	0.32093	U	0.006581	T	0.72708	0.3494	L	0.54323	1.7	0.33796	D	0.626082	B	0.15141	0.012	B	0.09377	0.004	T	0.70392	-0.4884	10	0.26408	T	0.33	-4.6731	9.3127	0.37915	0.1086:0.0:0.8914:0.0	.	168	Q9UPW8	UN13A_HUMAN	S	168;256;168;168;168;168	ENSP00000429562:P168S;ENSP00000400409:P256S;ENSP00000252773:P168S;ENSP00000447236:P168S;ENSP00000447572:P168S;ENSP00000446831:P168S	ENSP00000252773:P168S	P	-	1	0	UNC13A	17638480	1.000000	0.71417	0.957000	0.39632	0.868000	0.49771	5.505000	0.66981	0.754000	0.32968	0.289000	0.19496	CCT		0.532	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604	
FCHO1	23149	broad.mit.edu	37	19	17895622	17895622	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:17895622A>G	ENST00000596536.1	+	26	2598	c.2315A>G	c.(2314-2316)tAc>tGc	p.Y772C	FCHO1_ENST00000596951.1_Missense_Mutation_p.Y772C|FCHO1_ENST00000539407.1_Missense_Mutation_p.Y772C|FCHO1_ENST00000600676.1_Missense_Mutation_p.Y772C|FCHO1_ENST00000389133.4_Missense_Mutation_p.Y772C|FCHO1_ENST00000597512.1_Missense_Mutation_p.Y779C|FCHO1_ENST00000595033.1_Missense_Mutation_p.Y722C|FCHO1_ENST00000594202.1_Missense_Mutation_p.Y772C|FCHO1_ENST00000252771.7_Missense_Mutation_p.Y772C	NM_015122.2	NP_055937.1	O14526	FCHO1_HUMAN	FCH domain only 1	772	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.|Mediates interaction with AGFG1, CALM, DAB2, EPS15, EPS15R, ITSN1 and clathrin.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	AP-2 adaptor complex binding (GO:0035612)	p.Y772C(1)		NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						TCAGTGGAGTACGGCTACCGG	0.657											OREG0025350	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.Y722C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2165G	19						.						101.0	98.0	99.0					19																	17895622		2203	4300	6503	17756622	SO:0001583	missense	23149	exon24			AB006628	CCDS32955.1, CCDS59365.1, CCDS59366.1	19p13.12	2008-02-05				ENSG00000130475			29002	protein-coding gene	gene with protein product		613437				12477932	Standard	NM_001161357		Approved	KIAA0290	uc002nhg.3	O14526		ENST00000596536.1:c.2315A>G	19.37:g.17895622A>G	ENSP00000470731:p.Tyr772Cys	721	17756622	NM_001161359	A6NHE6|A8K5U5|B4E120|Q05C93|Q8IW22	Missense_Mutation	SNP	ENST00000596536.1	37	CCDS32955.1	.	.	.	.	.	.	.	.	.	.	A	16.11	3.029976	0.54790	.	.	ENSG00000130475	ENST00000252771;ENST00000389133;ENST00000539407	T;T;T	0.57436	0.4;0.4;0.4	3.7	3.7	0.42460	Muniscin C-terminal mu homology domain (1);	0.192065	0.34046	N	0.004303	T	0.70011	0.3175	M	0.77616	2.38	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.73855	-0.3851	10	0.87932	D	0	-19.9924	10.6136	0.45436	1.0:0.0:0.0:0.0	.	772;772	O14526;O14526-2	FCHO1_HUMAN;.	C	772	ENSP00000252771:Y772C;ENSP00000373785:Y772C;ENSP00000437978:Y772C	ENSP00000252771:Y772C	Y	+	2	0	FCHO1	17756622	1.000000	0.71417	1.000000	0.80357	0.580000	0.36256	7.808000	0.86044	1.698000	0.51180	0.402000	0.26972	TAC		0.657	FCHO1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466946.2	NM_015122	
ELL	8178	broad.mit.edu	37	19	18555592	18555592	+	Silent	SNP	G	G	A	rs555365724		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:18555592G>A	ENST00000262809.4	-	12	1907	c.1836C>T	c.(1834-1836)taC>taT	p.Y612Y	ELL_ENST00000596124.3_Silent_p.Y479Y|CTD-3137H5.1_ENST00000594590.2_RNA	NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	612					gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of viral transcription (GO:0050434)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	phosphatase binding (GO:0019902)	p.Y612Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		GCCGCTGGTCGTACTCGGCGA	0.617			T	MLL	AL								g|||	1	0.000199681	0.0	0.0	5008	,	,		17818	0.0		0.0	False		,,,				2504	0.001				p.Y612Y			Dom	yes		19	19p13.1	8178	ELL gene (11-19 lysine-rich leukemia gene)		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1836T	19						.						98.0	81.0	86.0					19																	18555592		2203	4300	6503	18416592	SO:0001819	synonymous_variant	8178	exon12			U16282	CCDS12380.1	19p13.1	2012-04-17	2005-05-23			ENSG00000105656		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23114	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 68"""	600284	"""chromosome 19 open reading frame 17"""	C19orf17		7991593, 8596958	Standard	NM_006532		Approved	Men, ELL1, PPP1R68	uc002njh.3	P55199		ENST00000262809.4:c.1836C>T	19.37:g.18555592G>A			18416592	NM_006532		Silent	SNP	ENST00000262809.4	37	CCDS12380.1																																																																																				0.617	ELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466362.1	NM_006532	
COMP	1311	broad.mit.edu	37	19	18897444	18897444	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:18897444G>A	ENST00000222271.2	-	11	1196	c.1152C>T	c.(1150-1152)gcC>gcT	p.A384A	COMP_ENST00000425807.1_Silent_p.A331A|COMP_ENST00000542601.2_Silent_p.A351A	NM_000095.2	NP_000086.2	P49747	COMP_HUMAN	cartilage oligomeric matrix protein	384					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|limb development (GO:0060173)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|protease binding (GO:0002020)	p.A384A(1)		breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GGCAGTTGTCGGCCTGGTTGC	0.582																																					p.A384A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1152T	19						.						123.0	91.0	102.0					19																	18897444		2203	4300	6503	18758444	SO:0001819	synonymous_variant	1311	exon11			L32137	CCDS12385.1	19p13.1	2008-02-05				ENSG00000105664			2227	protein-coding gene	gene with protein product	"""thrombospondin-5"""	600310	"""cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple)"""	PSACH, EDM1, EPD1		7713493, 8307576	Standard	NM_000095		Approved	MED, THBS5	uc002nke.3	P49747	OTTHUMG00000169318	ENST00000222271.2:c.1152C>T	19.37:g.18897444G>A			18758444	NM_000095	B4DKJ3|O14592|Q16388|Q16389|Q2NL86|Q8N4T2	Silent	SNP	ENST00000222271.2	37	CCDS12385.1																																																																																				0.582	COMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403457.1	NM_000095	
SUGP2	10147	broad.mit.edu	37	19	19136831	19136831	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:19136831C>T	ENST00000601879.1	-	3	623	c.326G>A	c.(325-327)cGg>cAg	p.R109Q	SUGP2_ENST00000456085.2_Missense_Mutation_p.G11R|SUGP2_ENST00000452918.2_Missense_Mutation_p.R109Q|SUGP2_ENST00000337018.6_Missense_Mutation_p.R109Q|SUGP2_ENST00000600377.1_Missense_Mutation_p.R123Q|SUGP2_ENST00000598202.1_5'UTR			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	109					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R109Q(1)		NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TTCCAGATCCCGGCCACATTC	0.512																																					p.R109Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G326A	19						.						103.0	98.0	100.0					19																	19136831		2203	4300	6503	18997831	SO:0001583	missense	10147	exon3			AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607		"""G patch domain containing"""	18641	protein-coding gene	gene with protein product		607993	"""splicing factor, arginine/serine-rich 14"""	SFRS14		12594045	Standard	NM_014884		Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.326G>A	19.37:g.19136831C>T	ENSP00000472286:p.Arg109Gln		18997831	NM_014884	C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Missense_Mutation	SNP	ENST00000601879.1	37	CCDS12392.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.51|18.51	3.639717|3.639717	0.67244|0.67244	.|.	.|.	ENSG00000064607|ENSG00000064607	ENST00000456085|ENST00000337018;ENST00000330854;ENST00000452918	T|T;T;T	0.14391|0.13657	2.51|2.57;2.58;2.57	4.41|4.41	4.41|4.41	0.53225|0.53225	.|.	.|0.124256	.|0.36555	.|N	.|0.002539	T|T	0.18923|0.18923	0.0454|0.0454	N|N	0.24115|0.24115	0.695|0.695	0.23677|0.23677	N|N	0.997131|0.997131	P|D;D	0.51240|0.76494	0.943|0.999;0.998	B|P;P	0.39068|0.61275	0.289|0.886;0.777	T|T	0.02705|0.02705	-1.1121|-1.1121	9|10	0.87932|0.66056	D|D	0|0.02	.|.	10.3141|10.3141	0.43725|0.43725	0.0:0.9026:0.0:0.0974|0.0:0.9026:0.0:0.0974	.|.	11|109;109	E7ETX7|A8K5G0;Q8IX01	.|.;SUGP2_HUMAN	R|Q	11|109	ENSP00000409603:G11R|ENSP00000337926:R109Q;ENSP00000332373:R109Q;ENSP00000389380:R109Q	ENSP00000409603:G11R|ENSP00000332373:R109Q	G|R	-|-	1|2	0|0	SUGP2|SUGP2	18997831|18997831	0.998000|0.998000	0.40836|0.40836	0.997000|0.997000	0.53966|0.53966	0.981000|0.981000	0.71138|0.71138	2.348000|2.348000	0.44045|0.44045	2.187000|2.187000	0.69744|0.69744	0.484000|0.484000	0.47621|0.47621	GGG|CGG		0.512	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464627.1	NM_001017392	
HAPLN4	404037	broad.mit.edu	37	19	19369470	19369470	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:19369470G>A	ENST00000291481.7	-	4	742	c.679C>T	c.(679-681)Cgg>Tgg	p.R227W	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	227	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323, ECO:0000305}.				cell adhesion (GO:0007155)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)	p.R227W(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)		Hyaluronan(DB08818)	CAGGGCTCCCGGGGCCGGTTC	0.716																																					p.R227W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C679T	19						.						15.0	19.0	18.0					19																	19369470		2190	4269	6459	19230470	SO:0001583	missense	404037	exon4			AB107883	CCDS12398.1	19p13.1	2013-01-11						"""Immunoglobulin superfamily / V-set domain containing"""	31357	protein-coding gene	gene with protein product	"""brain link protein 2"""					12663660	Standard	NM_023002		Approved	BRAL2, KIAA1926	uc002nmb.3	Q86UW8		ENST00000291481.7:c.679C>T	19.37:g.19369470G>A	ENSP00000291481:p.Arg227Trp		19230470	NM_023002	A5PKW5|Q96PW2	Missense_Mutation	SNP	ENST00000291481.7	37	CCDS12398.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.164547	0.57476	.	.	ENSG00000187664	ENST00000291481	T	0.13901	2.55	3.97	3.97	0.46021	C-type lectin fold (1);Link (5);C-type lectin-like (1);	0.000000	0.64402	D	0.000001	T	0.49490	0.1560	H	0.97659	4.05	0.46774	D	0.999195	D	0.89917	1.0	D	0.97110	1.0	T	0.63812	-0.6552	10	0.87932	D	0	-33.8438	10.2126	0.43150	0.0:0.0:0.8012:0.1988	.	227	Q86UW8	HPLN4_HUMAN	W	227	ENSP00000291481:R227W	ENSP00000291481:R227W	R	-	1	2	HAPLN4	19230470	1.000000	0.71417	1.000000	0.80357	0.182000	0.23217	3.624000	0.54231	2.055000	0.61198	0.313000	0.20887	CGG		0.716	HAPLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460117.2	NM_023002	
AP3D1	8943	broad.mit.edu	37	19	2110135	2110135	+	Splice_Site	SNP	C	C	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:2110135C>A	ENST00000345016.5	-	26	3309	c.3078G>T	c.(3076-3078)aaG>aaT	p.K1026N	AP3D1_ENST00000355272.6_Splice_Site_p.K1088N|AP3D1_ENST00000350812.6_Splice_Site_p.K857N|AP3D1_ENST00000356926.4_Splice_Site_p.K985N	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	1026					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)	p.K1026N(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCTGCATACCTTGGCAATGA	0.627																																					p.K1026N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3078T	19						.						59.0	60.0	60.0					19																	2110135		2051	4173	6224	2061135	SO:0001630	splice_region_variant	8943	exon26			U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.3078+1G>T	19.37:g.2110135C>A			2061135	NM_003938	O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Missense_Mutation	SNP	ENST00000345016.5	37	CCDS42459.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.410226	0.62399	.	.	ENSG00000065000	ENST00000356926;ENST00000345016;ENST00000355272;ENST00000343722;ENST00000350812	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	4.62	3.53	0.40419	.	0.000000	0.85682	D	0.000000	T	0.61986	0.2391	M	0.70595	2.14	0.53005	D	0.999968	D;D;D;D	0.76494	0.999;0.998;0.999;0.999	D;D;D;D	0.81914	0.977;0.995;0.958;0.93	T	0.61811	-0.6986	9	.	.	.	-44.5821	8.1527	0.31150	0.0:0.8405:0.0:0.1595	.	857;1088;1026;985	E7EMM2;O14617-5;O14617;G5E988	.;.;AP3D1_HUMAN;.	N	985;1026;1088;894;857	ENSP00000349398:K985N;ENSP00000344055:K1026N;ENSP00000347416:K1088N;ENSP00000342321:K857N	.	K	-	3	2	AP3D1	2061135	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	3.648000	0.54410	2.401000	0.81631	0.561000	0.74099	AAG		0.627	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1		Missense_Mutation
MAU2	23383	broad.mit.edu	37	19	19449695	19449695	+	Silent	SNP	C	C	T	rs377473235		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:19449695C>T	ENST00000392313.6	+	5	677	c.498C>T	c.(496-498)gaC>gaT	p.D166D	MAU2_ENST00000262815.8_Silent_p.D166D|MAU2_ENST00000586189.3_Intron	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	166					maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	protein N-terminus binding (GO:0047485)	p.D166D(1)		NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						CGGCCTGTGACCTCCTGGGTG	0.572																																					p.D166D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C498T	19						.	C		0,3984		0,0,1992	87.0	97.0	94.0		498	5.4	1.0	19		94	1,8307		0,1,4153	no	coding-synonymous	MAU2	NM_015329.3		0,1,6145	TT,TC,CC		0.012,0.0,0.0081		166/614	19449695	1,12291	1992	4154	6146	19310695	SO:0001819	synonymous_variant	23383	exon5			AB020699	CCDS32969.2	19p13.11	2013-08-28	2013-08-28	2013-08-28	ENSG00000129933	ENSG00000129933			29140	protein-coding gene	gene with protein product	"""sister chromatid cohesion 4"""	614560	"""KIAA0892"", ""MAU2 chromatid cohesion factor homolog (C. elegans)"""	KIAA0892		10048485	Standard	NM_015329		Approved	MGC75361, mau-2, MAU2L, SCC4	uc002nmk.4	Q9Y6X3	OTTHUMG00000150188	ENST00000392313.6:c.498C>T	19.37:g.19449695C>T			19310695	NM_015329	Q66PT1|Q6P3S7|Q6ZTT2|Q9UFX8	Silent	SNP	ENST00000392313.6	37	CCDS32969.2																																																																																				0.572	MAU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316748.6	NM_015329	
THEG	51298	broad.mit.edu	37	19	371215	371215	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:371215G>A	ENST00000342640.4	-	6	785	c.743C>T	c.(742-744)cCc>cTc	p.P248L	THEG_ENST00000346878.2_Missense_Mutation_p.P224L	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	248					cell differentiation (GO:0030154)|chaperone-mediated protein complex assembly (GO:0051131)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)		p.P248L(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCAGACATGGGCATGCTCCA	0.642																																					p.P224L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C671T	19						.						91.0	90.0	90.0					19																	371215		2203	4300	6503	322215	SO:0001583	missense	51298	exon5			AF268610	CCDS12025.1, CCDS12026.1	19p13.3	2012-02-24	2012-02-24		ENSG00000105549	ENSG00000105549			13706	protein-coding gene	gene with protein product	"""cancer/testis antigen 56"""	609503	"""Theg homolog (mouse)"""			11173852	Standard	NM_016585		Approved	CT56, THEG1	uc002lol.3	Q9P2T0	OTTHUMG00000165491	ENST00000342640.4:c.743C>T	19.37:g.371215G>A	ENSP00000340088:p.Pro248Leu		322215	NM_199202	A6NMJ8	Missense_Mutation	SNP	ENST00000342640.4	37	CCDS12025.1	.	.	.	.	.	.	.	.	.	.	G	5.057	0.196260	0.09599	.	.	ENSG00000105549	ENST00000342640;ENST00000346878	T;T	0.29655	1.56;1.56	4.11	1.94	0.25998	.	3.824420	0.00424	N	0.000077	T	0.15782	0.0380	N	0.08118	0	0.19300	N	0.999977	B;P	0.36249	0.318;0.545	B;B	0.31495	0.092;0.131	T	0.13335	-1.0513	10	0.33141	T	0.24	-15.5146	4.4421	0.11579	0.0:0.1093:0.2051:0.6856	.	224;248	Q9P2T0-2;Q9P2T0	.;THEG_HUMAN	L	248;224	ENSP00000340088:P248L;ENSP00000264820:P224L	ENSP00000340088:P248L	P	-	2	0	THEG	322215	0.012000	0.17670	0.387000	0.26183	0.064000	0.16182	0.972000	0.29409	0.233000	0.21120	-0.266000	0.10368	CCC		0.642	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384431.2		
C19orf71	100128569	broad.mit.edu	37	19	3542808	3542808	+	Intron	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:3542808A>G	ENST00000329493.5	+	2	107				AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000398558.4_Missense_Mutation_p.W530R|MFSD12_ENST00000389395.3_Intron	NM_001135580.1	NP_001129052.1	A6NCJ1	CS071_HUMAN	chromosome 19 open reading frame 71									p.W530R(1)		endometrium(2)	2						TCCCTGGGCCATGGCTTAGTG	0.617																																					p.W530R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1588C	19						.						32.0	36.0	35.0					19																	3542808		1922	4118	6040	3493808	SO:0001627	intron_variant	126321	exon10				CCDS45918.1	19p13.3	2012-10-26			ENSG00000183397	ENSG00000183397			34496	protein-coding gene	gene with protein product							Standard	NM_001135580		Approved	LOC100128569	uc010xhm.2	A6NCJ1		ENST00000329493.5:c.84-425A>G	19.37:g.3542808A>G			3493808	NM_021731		Missense_Mutation	SNP	ENST00000329493.5	37	CCDS45918.1	.	.	.	.	.	.	.	.	.	.	A	11.12	1.545429	0.27652	.	.	ENSG00000161091	ENST00000398558	T	0.20332	2.08	1.18	0.092	0.14470	.	.	.	.	.	T	0.08268	0.0206	N	0.08118	0	0.09310	N	1	B	0.29909	0.261	B	0.17098	0.017	T	0.25984	-1.0116	9	0.87932	D	0	.	3.1426	0.06461	0.7271:0.0:0.2729:0.0	.	530	A8MXP7	.	R	530	ENSP00000381566:W530R	ENSP00000381566:W530R	W	-	1	0	C19orf28	3493808	0.000000	0.05858	0.006000	0.13384	0.052000	0.14988	0.028000	0.13644	-0.035000	0.13691	0.383000	0.25322	TGG		0.617	C19orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452943.1	NM_001135580	
CACTIN	58509	broad.mit.edu	37	19	3612021	3612021	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:3612021C>T	ENST00000429344.2	-	10	2229	c.2177G>A	c.(2176-2178)cGc>cAc	p.R726H	CACTIN-AS1_ENST00000592274.1_RNA|CACTIN_ENST00000221899.3_Missense_Mutation_p.R658H|CACTIN_ENST00000248420.5_Missense_Mutation_p.R726H	NM_001080543.1	NP_001074012.1	Q8WUQ7	CATIN_HUMAN	cactin, spliceosome C complex subunit	726					cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R658H(1)|p.R726H(1)									TTCCCACTCGCGGTTGACGAT	0.607																																					p.R726H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2177A	19						.						89.0	105.0	100.0					19																	3612021		2045	4192	6237	3563021	SO:0001583	missense	58509	exon10			BC019848	CCDS45920.1	19p13.3	2012-06-08	2012-06-08	2012-06-08	ENSG00000105298	ENSG00000105298			29938	protein-coding gene	gene with protein product	"""NY REN 24 antigen"", ""functional spliceosome-associated protein c"", ""cactin homolog (Drosophila)"""		"""chromosome 19 open reading frame 29"""	C19orf29		8619474, 9110174, 21429463, 20829348	Standard	NM_001080543		Approved	NY-REN-24, fSAPc, cactin	uc002lyh.3	Q8WUQ7		ENST00000429344.2:c.2177G>A	19.37:g.3612021C>T	ENSP00000415078:p.Arg726His		3563021	NM_021231	A6NNA9|A9UL12|O75229|Q7LE08|Q9BTA6|Q9Y5A4	Missense_Mutation	SNP	ENST00000429344.2	37	CCDS45920.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.3|21.3	4.135963|4.135963	0.77662|0.77662	.|.	.|.	ENSG00000226800|ENSG00000105298	ENST00000447295|ENST00000429344;ENST00000248420;ENST00000221899	.|.	.|.	.|.	4.31|4.31	1.01|1.01	0.19927|0.19927	.|Cactin protein, cactus-binding domain, C-terminal (1);	.|0.114714	.|0.53938	.|N	.|0.000050	T|T	0.75213|0.75213	0.3819|0.3819	M|M	0.80982|0.80982	2.52|2.52	0.58432|0.58432	D|D	0.999991|0.999991	.|D;D	.|0.89917	.|0.997;1.0	.|D;D	.|0.97110	.|0.945;1.0	T|T	0.73493|0.73493	-0.3965|-0.3965	6|9	0.62326|0.66056	D|D	0.03|0.02	.|.	8.0863|8.0863	0.30773|0.30773	0.0:0.7269:0.0:0.2731|0.0:0.7269:0.0:0.2731	.|.	.|726;726	.|Q8WUQ7-2;Q8WUQ7	.|.;CS029_HUMAN	V|H	98|726;726;658	.|.	ENSP00000412459:A98V|ENSP00000221899:R658H	A|R	+|-	2|2	0|0	C19orf29OS|C19orf29	3563021|3563021	1.000000|1.000000	0.71417|0.71417	0.609000|0.609000	0.28983|0.28983	0.971000|0.971000	0.66376|0.66376	7.233000|7.233000	0.78125|0.78125	0.202000|0.202000	0.20498|0.20498	0.643000|0.643000	0.83706|0.83706	GCG|CGC		0.607	CACTIN-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457370.2		
ZNF681	148213	broad.mit.edu	37	19	23927835	23927835	+	Missense_Mutation	SNP	T	T	C	rs146752783	byFrequency	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	T	T	T	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:23927835T>C	ENST00000402377.3	-	4	658	c.517A>G	c.(517-519)Aaa>Gaa	p.K173E	ZNF681_ENST00000395385.3_Missense_Mutation_p.K104E	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	173					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CCAAATTCTTTATATTTAAAA	0.244																																					p.K173E												.	.	0			c.A517G	19						.						19.0	20.0	20.0					19																	23927835		2187	4269	6456	23719675	SO:0001583	missense	148213	exon4			AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"""Zinc fingers, C2H2-type"", ""-"""	26457	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31526"""						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.517A>G	19.37:g.23927835T>C	ENSP00000384000:p.Lys173Glu		23719675	NM_138286	B3KVF7	Missense_Mutation	SNP	ENST00000402377.3	37	CCDS12414.2	.	.	.	.	.	.	.	.	.	.	.	2.013	-0.426535	0.04701	.	.	ENSG00000196172	ENST00000402377;ENST00000395385;ENST00000528059;ENST00000531570	T;T;T;T	0.27557	1.66;1.66;2.49;1.66	1.27	1.27	0.21489	.	.	.	.	.	T	0.21801	0.0525	L	0.49571	1.57	0.09310	N	1	B	0.32693	0.38	B	0.28139	0.086	T	0.17684	-1.0361	9	0.36615	T	0.2	.	3.3124	0.07021	0.3681:0.0:0.0:0.6319	.	173	Q96N22	ZN681_HUMAN	E	173;104;104;104	ENSP00000384000:K173E;ENSP00000378783:K104E;ENSP00000433806:K104E;ENSP00000435824:K104E	ENSP00000378783:K104E	K	-	1	0	ZNF681	23719675	0.000000	0.05858	0.284000	0.24805	0.062000	0.15995	-3.288000	0.00525	0.530000	0.28619	0.260000	0.18958	AAA		0.244	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320248.2	NM_138286	
CEP89	84902	broad.mit.edu	37	19	33457311	33457311	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:33457311C>T	ENST00000305768.5	-	2	189	c.101G>A	c.(100-102)cGc>cAc	p.R34H	CEP89_ENST00000590597.2_Missense_Mutation_p.R34H|CEP89_ENST00000591863.1_5'Flank	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	34					cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						AGGAGGTGTGCGTGGCACAGC	0.562																																					p.R34H												.	.	0			c.G101A	19						.						94.0	75.0	81.0					19																	33457311		2203	4300	6503	38149151	SO:0001583	missense	84902	exon2			AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289			25907	protein-coding gene	gene with protein product		615470	"""coiled-coil domain containing 123"""	CCDC123		16395595	Standard	NM_032816		Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.101G>A	19.37:g.33457311C>T	ENSP00000306105:p.Arg34His		38149151	NM_032816	B9EGA6|Q8N5J8	Missense_Mutation	SNP	ENST00000305768.5	37	CCDS32987.1	.	.	.	.	.	.	.	.	.	.	C	19.95	3.920910	0.73213	.	.	ENSG00000121289	ENST00000305768	T	0.32515	1.45	5.61	4.58	0.56647	.	0.057052	0.64402	N	0.000001	T	0.54334	0.1852	M	0.71581	2.175	0.53688	D	0.99997	D;D	0.89917	0.996;1.0	P;D	0.91635	0.786;0.999	T	0.59375	-0.7466	10	0.87932	D	0	-4.226	13.9089	0.63855	0.0:0.9262:0.0:0.0738	.	34;34	Q96ST8-3;Q96ST8	.;CEP89_HUMAN	H	34	ENSP00000306105:R34H	ENSP00000306105:R34H	R	-	2	0	CEP89	38149151	1.000000	0.71417	0.999000	0.59377	0.331000	0.28603	6.605000	0.74155	1.363000	0.46019	0.655000	0.94253	CGC		0.562	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451300.2	NM_032816	
EEF2	1938	broad.mit.edu	37	19	3983209	3983209	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:3983209A>C	ENST00000309311.6	-	3	387	c.299T>G	c.(298-300)aTc>aGc	p.I100S	SNORD37_ENST00000384048.1_RNA|EEF2_ENST00000600720.1_5'Flank	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	100	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)	p.I100S(1)		endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		AATGAGGTTGATGAGGAAGCC	0.587																																					p.I100S	Colon(165;1804 1908 4071 6587 18799)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T299G	19						.						123.0	117.0	119.0					19																	3983209		2203	4300	6503	3934209	SO:0001583	missense	1938	exon3			Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"""polypeptidyl-tRNA translocase"""	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.299T>G	19.37:g.3983209A>C	ENSP00000307940:p.Ile100Ser		3934209	NM_001961	B2RMP5|D6W618|Q58J86	Missense_Mutation	SNP	ENST00000309311.6	37	CCDS12117.1	.	.	.	.	.	.	.	.	.	.	A	19.58	3.853457	0.71719	.	.	ENSG00000167658	ENST00000543343;ENST00000309311	T	0.74421	-0.84	5.37	5.37	0.77165	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	D	0.90834	0.7121	H	0.97516	4.02	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	D	0.93874	0.7165	10	0.87932	D	0	-41.1851	14.5382	0.67976	1.0:0.0:0.0:0.0	.	100	P13639	EF2_HUMAN	S	100	ENSP00000307940:I100S	ENSP00000307940:I100S	I	-	2	0	EEF2	3934209	1.000000	0.71417	1.000000	0.80357	0.202000	0.24057	9.279000	0.95777	2.031000	0.59945	0.533000	0.62120	ATC		0.587	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457615.2	NM_001961	
GPATCH1	55094	broad.mit.edu	37	19	33579150	33579150	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	T	T	T	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:33579150T>C	ENST00000170564.2	+	2	498	c.184T>C	c.(184-186)Ttc>Ctc	p.F62L		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	62					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					TGCTGGATACTTCAATACTGT	0.388																																					p.F62L	Pancreas(67;88 1713 4567 18227)											.	.	0			c.T184C	19						.						104.0	108.0	106.0					19																	33579150		2203	4300	6503	38270990	SO:0001583	missense	55094	exon2			AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"""G patch domain containing"""	24658	protein-coding gene	gene with protein product	"""evolutionarily conserved G patch domain containing"""			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.184T>C	19.37:g.33579150T>C	ENSP00000170564:p.Phe62Leu		38270990	NM_018025	Q8IZV6|Q8N3B7|Q9NW94	Missense_Mutation	SNP	ENST00000170564.2	37	CCDS12428.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.757747	0.89843	.	.	ENSG00000076650	ENST00000170564	T	0.25579	1.79	5.43	5.43	0.79202	Domain of unknown function DUF1604 (1);	0.048189	0.85682	D	0.000000	T	0.57301	0.2044	M	0.89353	3.025	0.80722	D	1	D	0.64830	0.994	D	0.73380	0.98	T	0.65615	-0.6125	10	0.66056	D	0.02	-15.0158	14.9395	0.70983	0.0:0.0:0.0:1.0	.	62	Q9BRR8	GPTC1_HUMAN	L	62	ENSP00000170564:F62L	ENSP00000170564:F62L	F	+	1	0	GPATCH1	38270990	1.000000	0.71417	1.000000	0.80357	0.621000	0.37620	7.352000	0.79404	2.190000	0.69967	0.533000	0.62120	TTC		0.388	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025	
GPI	2821	broad.mit.edu	37	19	34857274	34857274	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:34857274G>A	ENST00000356487.5	+	2	388	c.147G>A	c.(145-147)ggG>ggA	p.G49G	GPI_ENST00000415930.3_Silent_p.G88G|GPI_ENST00000586425.1_Silent_p.G49G	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	49					aldehyde catabolic process (GO:0046185)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|hemostasis (GO:0007599)|humoral immune response (GO:0006959)|learning or memory (GO:0007611)|methylglyoxal biosynthetic process (GO:0019242)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucose-6-phosphate isomerase activity (GO:0004347)|intramolecular transferase activity (GO:0016866)|monosaccharide binding (GO:0048029)	p.G49G(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					CCAACCATGGGCATATCCTGG	0.552																																					p.G49G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G147A	19						.						255.0	191.0	213.0					19																	34857274		2203	4300	6503	39549114	SO:0001819	synonymous_variant	2821	exon2			M61214	CCDS12437.1, CCDS54246.1	19q13.1	2012-10-02	2010-05-11			ENSG00000105220	5.3.1.9		4458	protein-coding gene	gene with protein product		172400	"""glucose phosphate isomerase"""			2387591, 8575767	Standard	NM_001184722		Approved	AMF, NLK	uc002nvg.2	P06744		ENST00000356487.5:c.147G>A	19.37:g.34857274G>A			39549114	NM_000175	B4DG39|Q9BRD3|Q9BSK5|Q9UHE6	Silent	SNP	ENST00000356487.5	37	CCDS12437.1																																																																																				0.552	GPI-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451693.3		
WTIP	126374	broad.mit.edu	37	19	34984483	34984483	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:34984483C>T	ENST00000590071.2	+	5	1324	c.987C>T	c.(985-987)acC>acT	p.T329T	WTIP_ENST00000270288.6_Silent_p.T553T	NM_001080436.1	NP_001073905.1	A6NIX2	WTIP_HUMAN	Wilms tumor 1 interacting protein	329	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|negative regulation of hippo signaling (GO:0035331)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasmic mRNA processing body (GO:0000932)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.T329T(1)		NS(1)|large_intestine(2)|lung(1)	4	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TTCCCTTCACCGTGGACGTGG	0.642																																					p.T329T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C987T	19						.						85.0	93.0	91.0					19																	34984483		2180	4291	6471	39676323	SO:0001819	synonymous_variant	126374	exon5			AK130059	CCDS59375.1	19q13.11	2012-03-16			ENSG00000142279	ENSG00000142279			20964	protein-coding gene	gene with protein product	"""WT1-interacting protein"""	614790				14736876	Standard	NM_001080436		Approved		uc002nvm.3	A6NIX2		ENST00000590071.2:c.987C>T	19.37:g.34984483C>T			39676323	NM_001080436		Silent	SNP	ENST00000590071.2	37	CCDS59375.1																																																																																				0.642	WTIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459381.3	XM_059037	
HAUS5	23354	broad.mit.edu	37	19	36104957	36104957	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:36104957C>T	ENST00000203166.5	+	4	240	c.215C>T	c.(214-216)cCa>cTa	p.P72L	HAUS5_ENST00000379045.2_Missense_Mutation_p.P72L|AC002115.9_ENST00000589603.1_lincRNA	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	72					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)		p.P72L(1)		NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						CAGGACAGTCCACAGGTGAGA	0.537																																					p.P72L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C215T	19						.						57.0	60.0	59.0					19																	36104957		2201	4300	6501	40796797	SO:0001583	missense	23354	exon4			AB020648	CCDS42550.1	19q13.12	2012-02-22	2009-04-20	2009-04-20	ENSG00000249115	ENSG00000249115		"""HAUS augmin-like complex subunits"""	29130	protein-coding gene	gene with protein product		613432	"""KIAA0841"""	KIAA0841		10048485, 19427217	Standard	NM_015302		Approved	dgt5	uc002oam.1	O94927	OTTHUMG00000048110	ENST00000203166.5:c.215C>T	19.37:g.36104957C>T	ENSP00000439056:p.Pro72Leu		40796797	NM_015302	B2RXK1|Q6P2P7|Q7L3D5|Q96CT8	Missense_Mutation	SNP	ENST00000203166.5	37	CCDS42550.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.309188	0.81247	.	.	ENSG00000249115	ENST00000203166;ENST00000379045	T;T	0.28069	1.63;1.63	4.98	4.98	0.66077	.	0.281001	0.35407	N	0.003229	T	0.32882	0.0844	N	0.08118	0	0.46336	D	0.998998	D	0.67145	0.996	D	0.65573	0.936	T	0.32640	-0.9899	10	0.59425	D	0.04	-11.1042	13.633	0.62206	0.0:1.0:0.0:0.0	.	72	O94927	HAUS5_HUMAN	L	72	ENSP00000439056:P72L;ENSP00000444373:P72L	ENSP00000439056:P72L	P	+	2	0	HAUS5	40796797	0.955000	0.32602	1.000000	0.80357	0.807000	0.45602	1.249000	0.32839	2.581000	0.87130	0.655000	0.94253	CCA		0.537	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459055.2		
RBM42	79171	broad.mit.edu	37	19	36122298	36122298	+	Missense_Mutation	SNP	C	C	T	rs538251490		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:36122298C>T	ENST00000262633.4	+	4	538	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	RBM42_ENST00000586618.1_Intron|RBM42_ENST00000588161.1_Missense_Mutation_p.R145W|RBM42_ENST00000589871.1_Missense_Mutation_p.R145W|RBM42_ENST00000360475.4_Missense_Mutation_p.R145W|RBM42_ENST00000589559.1_Missense_Mutation_p.R145W|RBM42_ENST00000592202.1_Intron	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	145						cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R145W(1)		breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CATGTTCCTGCGGCGGGCAGG	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		18214	0.001		0.0	False		,,,				2504	0.0				p.R145W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C433T	19						.						68.0	65.0	66.0					19																	36122298		2203	4300	6503	40814138	SO:0001583	missense	79171	exon4			BC004204	CCDS12468.1	19q13.12	2013-02-12				ENSG00000126254		"""RNA binding motif (RRM) containing"""	28117	protein-coding gene	gene with protein product		613232				12477932	Standard	NM_024321		Approved	MGC10433	uc002oan.3	Q9BTD8		ENST00000262633.4:c.433C>T	19.37:g.36122298C>T	ENSP00000262633:p.Arg145Trp		40814138	NM_024321	O00320|Q8N5R7|Q9BU66	Missense_Mutation	SNP	ENST00000262633.4	37	CCDS12468.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.682969	0.68157	.	.	ENSG00000126254	ENST00000262633;ENST00000360475	T;T	0.07908	3.22;3.15	4.99	3.89	0.44902	.	0.401671	0.24202	N	0.040601	T	0.14098	0.0341	N	0.22421	0.69	0.36145	D	0.847061	D;D;D;D	0.89917	1.0;0.983;0.983;0.999	D;B;B;D	0.70016	0.967;0.35;0.35;0.952	T	0.15464	-1.0436	10	0.46703	T	0.11	-11.7084	9.8339	0.40958	0.2832:0.7168:0.0:0.0	.	145;145;145;145	B4DWT0;Q9BTD8-3;Q9BTD8-2;Q9BTD8	.;.;.;RBM42_HUMAN	W	145	ENSP00000262633:R145W;ENSP00000353663:R145W	ENSP00000262633:R145W	R	+	1	2	RBM42	40814138	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	0.911000	0.28584	1.130000	0.42092	0.555000	0.69702	CGG		0.567	RBM42-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459057.2	NM_024321	
PRODH2	58510	broad.mit.edu	37	19	36303771	36303771	+	Silent	SNP	C	C	T	rs148112482		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:36303771C>T	ENST00000301175.3	-	2	182	c.165G>A	c.(163-165)ggG>ggA	p.G55G		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	55					proline catabolic process to glutamate (GO:0010133)	mitochondrial inner membrane (GO:0005743)	proline dehydrogenase activity (GO:0004657)	p.G55G(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCACCAACTGCCCCTTGCCCA	0.557																																					p.G55G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G165A	19						.						24.0	23.0	23.0					19																	36303771		2203	4300	6503	40995611	SO:0001819	synonymous_variant	58510	exon2			U80018	CCDS12478.1	19q13.1	2014-07-11				ENSG00000250799			17325	protein-coding gene	gene with protein product							Standard	NM_021232		Approved	HSPOX1	uc002obx.1	Q9UF12		ENST00000301175.3:c.165G>A	19.37:g.36303771C>T			40995611	NM_021232		Silent	SNP	ENST00000301175.3	37	CCDS12478.1																																																																																				0.557	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452552.2	NM_021232	
ZNF568	374900	broad.mit.edu	37	19	37440885	37440885	+	Missense_Mutation	SNP	C	C	T	rs371204967		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:37440885C>T	ENST00000333987.7	+	7	1336	c.830C>T	c.(829-831)cCg>cTg	p.P277L	ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000415168.1_Missense_Mutation_p.P213L	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	277					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P277L(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGGGAAAAACCGTATAAGTGT	0.368																																					p.P277L												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.C830T	19						.	C	LEU/PRO,LEU/PRO,LEU/PRO,,,LEU/PRO	0,4268		0,0,2134	38.0	42.0	40.0		827,638,638,,,830	1.7	0.0	19		40	1,8515		0,1,4257	no	missense,missense,missense,intron,intron,missense	ZNF568	NM_001204835.1,NM_001204836.1,NM_001204837.1,NM_001204838.1,NM_001204839.1,NM_198539.3	98,98,98,,,98	0,1,6391	TT,TC,CC		0.0117,0.0,0.0078	probably-damaging,probably-damaging,probably-damaging,,,probably-damaging	276/644,213/581,213/581,,,277/645	37440885	1,12783	2134	4258	6392	42132725	SO:0001583	missense	374900	exon7			BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"""Zinc fingers, C2H2-type"", ""-"""	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000333987.7:c.830C>T	19.37:g.37440885C>T	ENSP00000334685:p.Pro277Leu		42132725	NM_198539	B4DS92|E7ER33|Q6N060|Q8NA64	Missense_Mutation	SNP	ENST00000333987.7	37	CCDS42558.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.969459	0.53614	0.0	1.17E-4	ENSG00000198453	ENST00000333987;ENST00000415168	T;T	0.27557	1.66;1.66	3.95	1.73	0.24493	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.454465	0.16450	N	0.213887	T	0.42899	0.1223	M	0.81179	2.53	0.80722	D	1	D	0.63880	0.993	P	0.52031	0.688	T	0.39251	-0.9623	10	0.62326	D	0.03	.	7.2335	0.26057	0.0:0.7267:0.1725:0.1008	.	277	Q3ZCX4	ZN568_HUMAN	L	277;213	ENSP00000334685:P277L;ENSP00000394514:P213L	ENSP00000334685:P277L	P	+	2	0	ZNF568	42132725	0.001000	0.12720	0.001000	0.08648	0.936000	0.57629	1.413000	0.34725	0.407000	0.25591	0.655000	0.94253	CCG		0.368	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109572.2	NM_198539	
ZNF571	51276	broad.mit.edu	37	19	38055624	38055624	+	Missense_Mutation	SNP	C	C	T	rs191407797	byFrequency	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:38055624C>T	ENST00000328550.2	-	4	1805	c.1706G>A	c.(1705-1707)cGt>cAt	p.R569H	ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.R569H|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571_ENST00000451802.2_Missense_Mutation_p.R569H|ZNF571_ENST00000358744.3_Missense_Mutation_p.R569H|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	569					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R569H(1)		breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTCTGAGCCACGACTAAAGGC	0.443													C|||	2	0.000399361	0.0	0.0	5008	,	,		18895	0.002		0.0	False		,,,				2504	0.0				p.R569H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1706A	19						.	C	HIS/ARG	0,4406		0,0,2203	101.0	93.0	96.0		1706	1.5	0.0	19		96	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF571	NM_016536.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	569/610	38055624	1,13005	2203	4300	6503	42747464	SO:0001583	missense	51276	exon4			AF161544	CCDS12505.1	19q13.12	2013-09-20			ENSG00000180479	ENSG00000180479		"""Zinc fingers, C2H2-type"", ""-"""	25000	protein-coding gene	gene with protein product						11042152	Standard	XM_005258977		Approved	HSPC059	uc002ogt.3	Q7Z3V5	OTTHUMG00000182016	ENST00000328550.2:c.1706G>A	19.37:g.38055624C>T	ENSP00000333660:p.Arg569His		42747464	NM_016536	Q2HIY0|Q3ZCU3|Q9NZX7	Missense_Mutation	SNP	ENST00000328550.2	37	CCDS12505.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	5.387	0.256611	0.10185	0.0	1.16E-4	ENSG00000180479	ENST00000328550;ENST00000451802;ENST00000358744	T;T;T	0.05580	3.42;3.42;3.42	3.78	1.54	0.23209	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04452	0.0122	L	0.45051	1.395	0.09310	N	1	P	0.36438	0.553	B	0.27380	0.079	T	0.38156	-0.9674	9	0.12103	T	0.63	.	7.4406	0.27181	0.0:0.7777:0.0:0.2223	.	569	Q7Z3V5	ZN571_HUMAN	H	569	ENSP00000333660:R569H;ENSP00000392638:R569H;ENSP00000351594:R569H	ENSP00000333660:R569H	R	-	2	0	ZNF571	42747464	0.000000	0.05858	0.002000	0.10522	0.952000	0.60782	-1.571000	0.02138	0.774000	0.33427	0.460000	0.39030	CGT		0.443	ZNF571-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458669.1	NM_016536	
HNRNPL	3191	broad.mit.edu	37	19	39337968	39337968	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:39337968A>G	ENST00000221419.5	-	2	740	c.374T>C	c.(373-375)tTt>tCt	p.F125S	AC008982.2_ENST00000600473.1_RNA|HNRNPL_ENST00000600873.1_5'UTR	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	125	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription regulatory region DNA binding (GO:0044212)	p.F125S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GATGGGTCCAAACTCCTGCAA	0.557																																					p.F125S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T374C	19						.						92.0	86.0	88.0					19																	39337968		2203	4300	6503	44029808	SO:0001583	missense	3191	exon2			X16135	CCDS33015.1, CCDS33016.1	19q13.2	2013-06-12		2007-08-16	ENSG00000104824	ENSG00000104824		"""RNA binding motif (RRM) containing"""	5045	protein-coding gene	gene with protein product		603083		HNRPL		2687284	Standard	NM_001533		Approved		uc021uuh.1	P14866	OTTHUMG00000182612	ENST00000221419.5:c.374T>C	19.37:g.39337968A>G	ENSP00000221419:p.Phe125Ser		44029808	NM_001533	A6ND69|A6NIT8|Q9H3P3	Missense_Mutation	SNP	ENST00000221419.5	37	CCDS33015.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.717029	0.89205	.	.	ENSG00000104824	ENST00000221419;ENST00000536292	.	.	.	5.49	5.49	0.81192	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.79281	0.4419	M	0.79475	2.455	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.82222	-0.0564	9	0.87932	D	0	.	14.5547	0.68091	1.0:0.0:0.0:0.0	.	125	P14866	HNRPL_HUMAN	S	125;53	.	ENSP00000221419:F125S	F	-	2	0	HNRNPL	44029808	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.195000	0.94971	2.087000	0.62958	0.379000	0.24179	TTT		0.557	HNRNPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462670.1		
SARS2	54938	broad.mit.edu	37	19	39408741	39408741	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:39408741G>A	ENST00000221431.6	-	10	1114	c.955C>T	c.(955-957)Cca>Tca	p.P319S	SARS2_ENST00000600042.1_Missense_Mutation_p.P321S|CTC-360G5.8_ENST00000599996.1_Missense_Mutation_p.A388V|SARS2_ENST00000430193.3_Missense_Mutation_p.P319S|SARS2_ENST00000594171.1_Missense_Mutation_p.P129S|SARS2_ENST00000448145.2_Missense_Mutation_p.P319S|SARS2_ENST00000598831.1_5'Flank	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial	319					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|serine-tRNA ligase activity (GO:0004828)	p.P319S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CACCTGACTGGCAGGTCCCTG	0.582																																					p.P321S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C961T	19						.						85.0	75.0	78.0					19																	39408741		2203	4300	6503	44100581	SO:0001583	missense	54938	exon11			AB029948	CCDS33017.1, CCDS54265.1	19q13.2	2014-05-06	2007-02-23			ENSG00000104835	6.1.1.11	"""Aminoacyl tRNA synthetases / Class II"""	17697	protein-coding gene	gene with protein product	"""serine tRNA ligase 2, mitochondrial"""	612804	"""serine-tRNA ligase, mitochondrial"", ""seryl-tRNA synthetase 2"""	SARSM		10764807	Standard	NM_001145901		Approved	FLJ20450, mtSerRS, SerRSmt, SARS, SERS, SYS	uc010xup.1	Q9NP81	OTTHUMG00000182691	ENST00000221431.6:c.955C>T	19.37:g.39408741G>A	ENSP00000221431:p.Pro319Ser		44100581	NM_001145901	A6NHW7|B4DE10|Q9BVP3	Missense_Mutation	SNP	ENST00000221431.6	37	CCDS33017.1	.	.	.	.	.	.	.	.	.	.	g	23.3	4.393696	0.83011	.	.	ENSG00000104835	ENST00000430193;ENST00000221431;ENST00000448145	D;D	0.96041	-3.89;-3.89	4.0	4.0	0.46444	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.000000	0.85682	D	0.000000	D	0.97917	0.9315	M	0.89601	3.045	.	.	.	D;D;D;D	0.89917	1.0;0.994;1.0;0.998	D;D;D;D	0.74023	0.963;0.912;0.963;0.982	D	0.98974	1.0802	9	0.87932	D	0	.	15.7579	0.78051	0.0:0.0:1.0:0.0	.	319;321;319;319	E7EX87;B4DE10;B4DXB9;Q9NP81	.;.;.;SYSM_HUMAN	S	321;319;319	ENSP00000221431:P319S;ENSP00000399330:P319S	ENSP00000221431:P319S	P	-	1	0	FBXO17	44100581	1.000000	0.71417	0.998000	0.56505	0.872000	0.50106	7.081000	0.76844	2.179000	0.69175	0.479000	0.44913	CCA		0.582	SARS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463139.1	NM_017827	
ACP7	390928	broad.mit.edu	37	19	39591641	39591641	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:39591641G>A	ENST00000331256.5	+	8	1134	c.860G>A	c.(859-861)cGg>cAg	p.R287Q	PAPL_ENST00000594229.1_Missense_Mutation_p.G246S	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		287						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)|metal ion binding (GO:0046872)	p.R287Q(1)									ATGGGGCACCGGCCCATGTAC	0.612																																					p.R287Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G860A	19						.						73.0	76.0	75.0					19																	39591641		2203	4300	6503	44283481	SO:0001583	missense	390928	exon8																														ENST00000331256.5:c.860G>A	19.37:g.39591641G>A	ENSP00000327557:p.Arg287Gln		44283481	NM_001004318	B2RN68	Missense_Mutation	SNP	ENST00000331256.5	37	CCDS33018.1	.	.	.	.	.	.	.	.	.	.	G	36	5.689762	0.96784	.	.	ENSG00000183760	ENST00000331256	D	0.84800	-1.9	5.81	5.81	0.92471	Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	D	0.92906	0.7743	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.92858	0.6303	10	0.54805	T	0.06	-48.4973	17.5777	0.87956	0.0:0.0:1.0:0.0	.	287	Q6ZNF0	PAPL_HUMAN	Q	287	ENSP00000327557:R287Q	ENSP00000327557:R287Q	R	+	2	0	AC011443.1	44283481	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.965000	0.76067	2.741000	0.93983	0.655000	0.94253	CGG		0.612	PAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463810.1		
NCCRP1	342897	broad.mit.edu	37	19	39691372	39691372	+	Silent	SNP	C	C	T	rs200152362		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:39691372C>T	ENST00000339852.4	+	6	826	c.804C>T	c.(802-804)tcC>tcT	p.S268S		NM_001001414.1	NP_001001414.1	Q6ZVX7	FBX50_HUMAN	non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)	268	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.				positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.S268S(1)		kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						CCGACTCCTCCGTGTCTGTGC	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		17463	0.001		0.0	False		,,,				2504	0.0				p.S268S	Melanoma(107;1207 1556 14956 29427 52130)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C804T	19						.	C		1,4405	2.1+/-5.4	0,1,2202	144.0	142.0	142.0		804	-7.6	1.0	19		142	0,8600		0,0,4300	no	coding-synonymous	NCCRP1	NM_001001414.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		268/276	39691372	1,13005	2203	4300	6503	44383212	SO:0001819	synonymous_variant	342897	exon6			AK123941, BC067874	CCDS12529.1	19q13.2	2013-07-31	2008-11-19		ENSG00000188505	ENSG00000188505			33739	protein-coding gene	gene with protein product		615901					Standard	NM_001001414		Approved	LOC342897, NCCRP-1, FBXO50	uc002okq.1	Q6ZVX7		ENST00000339852.4:c.804C>T	19.37:g.39691372C>T			44383212	NM_001001414	Q6NVV5	Silent	SNP	ENST00000339852.4	37	CCDS12529.1																																																																																				0.622	NCCRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463829.1	NM_001001414	
LRG1	116844	broad.mit.edu	37	19	4538846	4538846	+	Silent	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:4538846A>G	ENST00000306390.6	-	2	610	c.150T>C	c.(148-150)caT>caC	p.H50H	LRG1_ENST00000586883.1_5'UTR|CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	50					brown fat cell differentiation (GO:0050873)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.H50H(1)		NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGAGCTGCCATGGTCTGAGC	0.612																																					p.H50H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T150C	19						.						70.0	62.0	65.0					19																	4538846		2203	4300	6503	4489846	SO:0001819	synonymous_variant	116844	exon2				CCDS12130.1	19p13.3	2013-09-20			ENSG00000171236	ENSG00000171236			29480	protein-coding gene	gene with protein product	"""leucine rich alpha 2 glycoprotein"""	611289				3856868, 12223515	Standard	NM_052972		Approved	LRG	uc002mau.3	P02750	OTTHUMG00000182010	ENST00000306390.6:c.150T>C	19.37:g.4538846A>G			4489846	NM_052972	Q8N4F5|Q96QZ4	Silent	SNP	ENST00000306390.6	37	CCDS12130.1																																																																																				0.612	LRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458654.2	NM_052972	
PAF1	54623	broad.mit.edu	37	19	39879034	39879034	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:39879034A>G	ENST00000221265.3	-	11	1261	c.931T>C	c.(931-933)Tac>Cac	p.Y311H	MED29_ENST00000315588.5_5'Flank|PAF1_ENST00000221266.7_Missense_Mutation_p.Y278H|PAF1_ENST00000595564.1_Missense_Mutation_p.Y301H|MED29_ENST00000594368.1_5'Flank	NM_019088.3	NP_061961.2	P28328	PEX2_HUMAN	Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)	0					bile acid biosynthetic process (GO:0006699)|cholesterol homeostasis (GO:0042632)|fatty acid beta-oxidation (GO:0006635)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|peroxisome organization (GO:0007031)|protein destabilization (GO:0031648)|protein import into peroxisome matrix (GO:0016558)|regulation of cholesterol biosynthetic process (GO:0045540)|very long-chain fatty acid metabolic process (GO:0000038)	Cdc73/Paf1 complex (GO:0016593)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)	zinc ion binding (GO:0008270)	p.Y311H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			ATGAAGAAGTAGTTTTCCTCA	0.473																																					p.Y311H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T931C	19						.						208.0	152.0	171.0					19																	39879034		2203	4300	6503	44570874	SO:0001583	missense	54623	exon11				CCDS12533.1, CCDS59387.1	19q13.1	2008-02-05				ENSG00000006712			25459	protein-coding gene	gene with protein product		610506				15632063	Standard	NM_019088		Approved	PD2, F23149_1, FLJ11123	uc002old.4	Q8N7H5		ENST00000221265.3:c.931T>C	19.37:g.39879034A>G	ENSP00000221265:p.Tyr311His		44570874	NM_019088	Q567S6|Q9BW41	Missense_Mutation	SNP	ENST00000221265.3	37	CCDS12533.1	.	.	.	.	.	.	.	.	.	.	A	18.69	3.677042	0.68042	.	.	ENSG00000006712	ENST00000221265;ENST00000221266;ENST00000416728	.	.	.	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.66117	0.2757	M	0.69248	2.105	0.58432	D	0.999998	P;P	0.52692	0.858;0.955	P;P	0.54759	0.547;0.76	T	0.65825	-0.6074	9	0.35671	T	0.21	-17.2581	12.2826	0.54774	1.0:0.0:0.0:0.0	.	278;311	F8W9Q2;Q8N7H5	.;PAF1_HUMAN	H	311;278;258	.	ENSP00000221265:Y311H	Y	-	1	0	PAF1	44570874	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.400000	0.90200	1.999000	0.58509	0.533000	0.62120	TAC		0.473	PAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464477.1	NM_019088	
DYRK1B	9149	broad.mit.edu	37	19	40321105	40321105	+	Silent	SNP	G	G	A	rs146381130		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:40321105G>A	ENST00000593685.1	-	4	750	c.282C>T	c.(280-282)gaC>gaT	p.D94D	DYRK1B_ENST00000323039.5_Silent_p.D94D|DYRK1B_ENST00000430012.2_Silent_p.D94D|DYRK1B_ENST00000601972.1_Silent_p.D94D|DYRK1B_ENST00000597639.1_Silent_p.D94D|DYRK1B_ENST00000348817.3_Silent_p.D94D			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	94					adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)	p.D94D(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			CATGGTTGTCGTCATCATAAC	0.562																																					p.D94D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C282T	19						.	G	,,	1,4405	2.1+/-5.4	0,1,2202	167.0	123.0	138.0		282,282,282	-6.1	0.9	19	dbSNP_134	138	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	DYRK1B	NM_004714.1,NM_006483.1,NM_006484.1	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	94/630,94/590,94/602	40321105	1,13005	2203	4300	6503	45012945	SO:0001819	synonymous_variant	9149	exon4			Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"""minibrain-related kinase"""	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.282C>T	19.37:g.40321105G>A			45012945	NM_006483	O75258|O75788|O75789	Silent	SNP	ENST00000593685.1	37	CCDS12543.1																																																																																				0.562	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714	
AKT2	208	broad.mit.edu	37	19	40761148	40761148	+	Silent	SNP	C	C	T	rs139479466	byFrequency	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:40761148C>T	ENST00000392038.2	-	4	502	c.204G>A	c.(202-204)ccG>ccA	p.P68P	AKT2_ENST00000579047.1_Silent_p.P6P|AKT2_ENST00000311278.6_Silent_p.P68P|AKT2_ENST00000424901.1_Silent_p.P68P	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	68	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of Ral GTPase activity (GO:0032859)|apoptotic process (GO:0006915)|carbohydrate transport (GO:0008643)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|fat cell differentiation (GO:0045444)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transmembrane transport (GO:0065002)|mammary gland epithelial cell differentiation (GO:0060644)|membrane organization (GO:0061024)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of cell motility (GO:2000147)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)|protein localization to plasma membrane (GO:0072659)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)	p.P68P(1)		breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			TGTTGGGTCGCGGCCTCTCGG	0.607			A		"""ovarian, pancreatic """								C|||	2	0.000399361	0.0015	0.0	5008	,	,		19884	0.0		0.0	False		,,,				2504	0.0				p.P68P			Dom	yes		19	19q13.1-q13.2	208	v-akt murine thymoma viral oncogene homolog 2		E	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G204A	19						.	C		8,4398	14.3+/-33.2	0,8,2195	122.0	118.0	119.0		204	-9.9	0.0	19	dbSNP_134	119	0,8600		0,0,4300	no	coding-synonymous	AKT2	NM_001626.4		0,8,6495	TT,TC,CC		0.0,0.1816,0.0615		68/482	40761148	8,12998	2203	4300	6503	45452988	SO:0001819	synonymous_variant	208	exon4			M77198	CCDS12552.1	19q13.1-q13.2	2013-01-10			ENSG00000105221	ENSG00000105221	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	392	protein-coding gene	gene with protein product		164731				1409633	Standard	NM_001626		Approved		uc002onf.3	P31751	OTTHUMG00000137375	ENST00000392038.2:c.204G>A	19.37:g.40761148C>T			45452988	NM_001626	B2RBD8|Q05BV0|Q0VAN0|Q0VAN1|Q68GC0	Silent	SNP	ENST00000392038.2	37	CCDS12552.1																																																																																				0.607	AKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268029.1	NM_001626	
PRX	57716	broad.mit.edu	37	19	40902799	40902799	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:40902799G>A	ENST00000324001.7	-	7	1730	c.1460C>T	c.(1459-1461)cCg>cTg	p.P487L	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	487	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.P487L(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCGCACCTCCGGCACAGCCAT	0.592																																					p.P487L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1460T	19						.						81.0	95.0	90.0					19																	40902799		2202	4296	6498	45594639	SO:0001583	missense	57716	exon7			AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.1460C>T	19.37:g.40902799G>A	ENSP00000326018:p.Pro487Leu		45594639	NM_181882	Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	G	8.888	0.953393	0.18431	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.03468	3.92	3.52	3.52	0.40303	.	0.157391	0.30771	N	0.008905	T	0.16599	0.0399	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.01053	-1.1467	10	0.62326	D	0.03	-16.8864	13.9621	0.64188	0.0:0.0:1.0:0.0	.	487	Q9BXM0	PRAX_HUMAN	L	487	ENSP00000326018:P487L	ENSP00000326018:P487L	P	-	2	0	PRX	45594639	0.001000	0.12720	0.762000	0.31397	0.278000	0.26855	0.962000	0.29280	1.819000	0.53055	0.462000	0.41574	CCG		0.592	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956	
ARHGEF1	9138	broad.mit.edu	37	19	42398300	42398300	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:42398300T>C	ENST00000354532.3	+	9	813	c.665T>C	c.(664-666)aTt>aCt	p.I222T	ARHGEF1_ENST00000378152.4_Missense_Mutation_p.I204T|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.I189T|ARHGEF1_ENST00000599846.1_Missense_Mutation_p.I222T|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.I237T	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	222	RGSL.				cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.I237T(1)		breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		GTCAACGCCATTGGCCTGTAC	0.562																																					p.I189T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T566C	19						.						112.0	70.0	85.0					19																	42398300		2203	4299	6502	47090140	SO:0001583	missense	9138	exon8			U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"""Rho guanine nucleotide exchange factors"""	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.665T>C	19.37:g.42398300T>C	ENSP00000346532:p.Ile222Thr		47090140	NM_198977	O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Missense_Mutation	SNP	ENST00000354532.3	37	CCDS12591.1	.	.	.	.	.	.	.	.	.	.	T	15.78	2.934996	0.52866	.	.	ENSG00000076928	ENST00000354532;ENST00000347545;ENST00000316079;ENST00000337665;ENST00000378152	D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83	3.89	3.89	0.44902	Regulator of G protein signalling superfamily (1);Regulator of G protein signalling-like fold (1);	0.070560	0.56097	D	0.000037	D	0.90219	0.6942	M	0.67397	2.05	0.43226	D	0.995119	B;P;B;B;D	0.63046	0.379;0.669;0.277;0.317;0.992	B;P;B;P;D	0.83275	0.208;0.848;0.143;0.875;0.996	D	0.90602	0.4545	10	0.66056	D	0.02	-21.5748	11.1018	0.48179	0.0:0.0:0.0:1.0	.	204;237;189;222;282	Q6NX52;Q92888-3;Q92888-2;Q92888;Q8NF33	.;.;.;ARHG1_HUMAN;.	T	222;189;258;237;204	ENSP00000346532:I222T;ENSP00000344429:I189T;ENSP00000337261:I237T;ENSP00000367394:I204T	ENSP00000323044:I258T	I	+	2	0	ARHGEF1	47090140	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.218000	0.58554	1.784000	0.52394	0.396000	0.25979	ATT		0.562	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000463360.1	NM_199002	
PSG7	5676	broad.mit.edu	37	19	43429942	43429942	+	RNA	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:43429942A>G	ENST00000406070.2	-	0	1322				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				TCTGACTGTCACGGATTTGGA	0.463																																					p.V409A												.	.	0			c.T1226C	19						.						203.0	204.0	204.0					19																	43429942		2201	4300	6501	48121782			5676	exon5					19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43429942A>G			48121782	NM_002783	Q15232	Missense_Mutation	SNP	ENST00000406070.2	37																																																																																					0.463	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650	
PSG9	5678	broad.mit.edu	37	19	43762595	43762595	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:43762595G>A	ENST00000270077.3	-	5	1098	c.1002C>T	c.(1000-1002)ctC>ctT	p.L334L	PSG9_ENST00000593948.1_Silent_p.L241L|PSG9_ENST00000443718.3_Silent_p.L241L|PSG9_ENST00000418820.2_Silent_p.L241L|PSG9_ENST00000291752.5_Silent_p.L148L|PSG9_ENST00000244293.7_Silent_p.L241L|PSG9_ENST00000596730.1_Silent_p.L148L	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	334					female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.L334L(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				AAATTCTGGGGAGGTCTGGAC	0.488																																					p.L334L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1002T	19						.						113.0	141.0	131.0					19																	43762595		2141	4279	6420	48454435	SO:0001819	synonymous_variant	5678	exon5			M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.1002C>T	19.37:g.43762595G>A			48454435	NM_002784	B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Silent	SNP	ENST00000270077.3	37	CCDS12618.1																																																																																				0.488	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	NM_002784	
CD177	57126	broad.mit.edu	37	19	43859909	43859909	+	RNA	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:43859909A>G	ENST00000607517.1	+	0	532				CD177_ENST00000378009.4_RNA|CD177_ENST00000378012.2_RNA			Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.Y159C(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				ACACACTGTTATGATGGCCTC	0.582																																					p.Y159C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A476G	19						.						56.0	55.0	55.0					19																	43859909		1882	4110	5992	48551749			57126	exon4			AF146747	CCDS62700.1	19q13.31	2013-10-02	2006-03-28		ENSG00000204936	ENSG00000204936		"""CD molecules"""	30072	protein-coding gene	gene with protein product	"""polycythemia rubra vera 1"""	162860	"""CD177 antigen"""			10753836, 5552408	Standard	NM_020406		Approved	PRV1, HNA2A, NB1	uc002owi.3	Q8N6Q3	OTTHUMG00000185320		19.37:g.43859909A>G			48551749	NM_020406	Q711Q2|Q8NCV9|Q96QH1|Q9HDA5	Missense_Mutation	SNP	ENST00000607517.1	37		.	.	.	.	.	.	.	.	.	.	a	15.71	2.914833	0.52546	.	.	ENSG00000204936	ENST00000378009	T	0.71103	-0.54	3.46	3.46	0.39613	CD59 antigen (1);	.	.	.	.	D	0.83912	0.5357	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85385	0.1122	9	0.87932	D	0	.	8.6496	0.34027	1.0:0.0:0.0:0.0	.	159	Q8N6Q3	CD177_HUMAN	C	159	ENSP00000367248:Y159C	ENSP00000367248:Y159C	Y	+	2	0	CD177	48551749	0.934000	0.31675	0.906000	0.35671	0.006000	0.05464	2.575000	0.46025	1.841000	0.53522	0.411000	0.27672	TAT		0.582	CD177-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000470162.1	NM_020406	
PVR	5817	broad.mit.edu	37	19	45165067	45165067	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:45165067G>T	ENST00000425690.3	+	8	1542	c.1243G>T	c.(1243-1245)Ggc>Tgc	p.G415C	CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000344956.4_Missense_Mutation_p.G362C|PVR_ENST00000403059.4_Missense_Mutation_p.G370C	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor	415					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|receptor activity (GO:0004872)	p.G415C(1)		large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		ACAGACAGAGGGCACAAGGTG	0.552																																					p.G370C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1108T	19						.						64.0	58.0	60.0					19																	45165067		2203	4300	6503	49856907	SO:0001583	missense	5817	exon8			BC015542	CCDS12640.1, CCDS46105.1, CCDS46106.1, CCDS46107.1	19q13.2	2013-01-29			ENSG00000073008	ENSG00000073008		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9705	protein-coding gene	gene with protein product	"""nectin-like 5"""	173850		PVS		2170108	Standard	XM_005259120		Approved	CD155, HVED, Necl-5, NECL5, Tage4	uc002ozm.3	P15151	OTTHUMG00000151527	ENST00000425690.3:c.1243G>T	19.37:g.45165067G>T	ENSP00000402060:p.Gly415Cys		49856907	NM_001135768	B4DTS9|P15152|Q15267|Q15268|Q96BJ1	Missense_Mutation	SNP	ENST00000425690.3	37	CCDS12640.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.512912	0.44660	.	.	ENSG00000073008	ENST00000344956;ENST00000425690;ENST00000403059	T;D;T	0.90844	-0.19;-2.74;-0.35	3.1	0.925	0.19424	.	.	.	.	.	D	0.91754	0.7392	L	0.53249	1.67	0.09310	N	1	D;D;D	0.89917	0.995;1.0;0.998	P;D;P	0.67382	0.874;0.951;0.87	T	0.81720	-0.0804	9	0.66056	D	0.02	.	5.4387	0.16496	0.269:0.0:0.731:0.0	.	370;362;415	P15151-2;P15151-3;P15151	.;.;PVR_HUMAN	C	362;415;370	ENSP00000340870:G362C;ENSP00000402060:G415C;ENSP00000385344:G370C	ENSP00000340870:G362C	G	+	1	0	PVR	49856907	0.000000	0.05858	0.000000	0.03702	0.133000	0.20885	-1.630000	0.02028	0.337000	0.23665	0.462000	0.41574	GGC		0.552	PVR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323017.2	NM_006505	
PPM1N	147699	broad.mit.edu	37	19	46003211	46003211	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:46003211G>A	ENST00000451287.2	+	2	944	c.944G>A	c.(943-945)aGc>aAc	p.S315N	PPM1N_ENST00000456399.2_Splice_Site|PPM1N_ENST00000324688.4_3'UTR|PPM1N_ENST00000396735.2_5'UTR|RTN2_ENST00000590526.1_5'Flank|PPM1N_ENST00000401705.1_5'UTR|RTN2_ENST00000344680.4_5'Flank|PPM1N_ENST00000396737.2_5'UTR|RTN2_ENST00000245923.4_5'Flank|PPM1N_ENST00000401593.1_5'UTR|PPM1N_ENST00000396736.2_5'Flank	NM_001080401.1	NP_001073870.1	Q8N819	PPM1N_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative)	315	PP2C-like.						magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoprotein phosphatase activity (GO:0004721)	p.S315N(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)	9						CTTCAGGGCAGCCTGGACAAC	0.612																																					p.S315N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G944A	19						.						12.0	12.0	12.0					19																	46003211		1860	4098	5958	50695051	SO:0001583	missense	147699	exon2			AK097444	CCDS46115.1	19q13.32	2012-04-17			ENSG00000213889	ENSG00000213889		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	26845	protein-coding gene	gene with protein product							Standard	NM_001080401		Approved	FLJ40125	uc002pce.3	Q8N819	OTTHUMG00000140397	ENST00000451287.2:c.944G>A	19.37:g.46003211G>A	ENSP00000397050:p.Ser315Asn		50695051	NM_001080401	Q6P662	Missense_Mutation	SNP	ENST00000451287.2	37	CCDS46115.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.561288	0.65538	.	.	ENSG00000213889	ENST00000451287;ENST00000396734	T	0.19938	2.11	3.55	3.55	0.40652	Protein phosphatase 2C-like (5);	.	.	.	.	T	0.51702	0.1690	M	0.90922	3.16	0.80722	D	1	D	0.65815	0.995	D	0.66716	0.946	T	0.63954	-0.6520	9	0.87932	D	0	.	13.424	0.61015	0.0:0.0:1.0:0.0	.	315	Q8N819	PPM1N_HUMAN	N	315	ENSP00000397050:S315N	ENSP00000379960:S315N	S	+	2	0	PPM1N	50695051	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.699000	0.74613	2.300000	0.77407	0.650000	0.86243	AGC		0.612	PPM1N-007	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326517.2	NM_001080401	
PPM1N	147699	broad.mit.edu	37	19	46003943	46003943	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:46003943G>A	ENST00000451287.2	+	4	1199	c.1199G>A	c.(1198-1200)tGc>tAc	p.C400Y	PPM1N_ENST00000456399.2_Intron|PPM1N_ENST00000324688.4_3'UTR|PPM1N_ENST00000396735.2_Missense_Mutation_p.C82Y|PPM1N_ENST00000401705.1_Missense_Mutation_p.C82Y|PPM1N_ENST00000396737.2_Missense_Mutation_p.C82Y|PPM1N_ENST00000401593.1_Missense_Mutation_p.A72T|PPM1N_ENST00000396736.2_Intron	NM_001080401.1	NP_001073870.1	Q8N819	PPM1N_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative)	400							magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoprotein phosphatase activity (GO:0004721)	p.C400Y(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)	9						TCTCAGATCTGCCAGGTCTCA	0.582																																					p.C400Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1199A	19						.						60.0	61.0	61.0					19																	46003943		1934	4135	6069	50695783	SO:0001583	missense	147699	exon4			AK097444	CCDS46115.1	19q13.32	2012-04-17			ENSG00000213889	ENSG00000213889		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	26845	protein-coding gene	gene with protein product							Standard	NM_001080401		Approved	FLJ40125	uc002pce.3	Q8N819	OTTHUMG00000140397	ENST00000451287.2:c.1199G>A	19.37:g.46003943G>A	ENSP00000397050:p.Cys400Tyr		50695783	NM_001080401	Q6P662	Missense_Mutation	SNP	ENST00000451287.2	37	CCDS46115.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	0.007|0.007	-1.989561|-1.989561	0.00439|0.00439	.|.	.|.	ENSG00000213889|ENSG00000213889	ENST00000401593|ENST00000401705;ENST00000396737;ENST00000396734;ENST00000396735	.|.	.|.	.|.	3.34|3.34	-4.69|-4.69	0.03299|0.03299	.|Protein serine/threonine phosphatase 2C, C-terminal (2);	.|.	.|.	.|.	.|.	T|T	0.14614|0.14614	0.0353|0.0353	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	0.999999|0.999999	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.36311|0.36311	-0.9753|-0.9753	6|8	0.18710|0.02654	T|T	0.47|1	.|.	3.2614|3.2614	0.06850|0.06850	0.3075:0.0:0.2399:0.4526|0.3075:0.0:0.2399:0.4526	.|.	.|400	.|Q8N819	.|PPM1N_HUMAN	T|Y	72|82;82;400;82	.|.	ENSP00000384809:A72T|ENSP00000379960:C400Y	A|C	+|+	1|2	0|0	PPM1N|PPM1N	50695783|50695783	0.003000|0.003000	0.15002|0.15002	0.008000|0.008000	0.14137|0.14137	0.283000|0.283000	0.27025|0.27025	-0.529000|-0.529000	0.06186|0.06186	-0.892000|-0.892000	0.03935|0.03935	-0.322000|-0.322000	0.08575|0.08575	GCC|TGC		0.582	PPM1N-007	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326517.2	NM_001080401	
MYPOP	339344	broad.mit.edu	37	19	46394574	46394574	+	Silent	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:46394574T>C	ENST00000322217.5	-	3	593	c.507A>G	c.(505-507)tcA>tcG	p.S169S		NM_001012643.2	NP_001012661.1	Q86VE0	MYPOP_HUMAN	Myb-related transcription factor, partner of profilin	169	Pro-rich.					nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.S169S(1)		large_intestine(2)|lung(1)|skin(1)	4						TGCTGTGGGCTGATGTATCTG	0.642																																					p.S169S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A507G	19						.						6.0	9.0	8.0					19																	46394574		2154	4274	6428	51086414	SO:0001819	synonymous_variant	339344	exon3			BC044311	CCDS33055.1	19q13.32	2014-06-13			ENSG00000176182	ENSG00000176182			20178	protein-coding gene	gene with protein product	"""p42 Myb-related transcription factor, partner of profilin"""					15615774	Standard	NM_001012643		Approved	P42pop	uc002pdt.3	Q86VE0	OTTHUMG00000182486	ENST00000322217.5:c.507A>G	19.37:g.46394574T>C			51086414	NM_001012643		Silent	SNP	ENST00000322217.5	37	CCDS33055.1																																																																																				0.642	MYPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461684.1	NM_001012643	
ARHGAP35	2909	broad.mit.edu	37	19	47423946	47423946	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:47423946T>C	ENST00000404338.3	+	1	2014	c.2014T>C	c.(2014-2016)Tcc>Ccc	p.S672P		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	672					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)	p.S672P(1)									GGAATCGCTATCCTATGTAGT	0.468																																					p.S672P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2014C	19						.						36.0	37.0	37.0					19																	47423946		1911	4134	6045	52115786	SO:0001583	missense	2909	exon1			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.2014T>C	19.37:g.47423946T>C	ENSP00000385720:p.Ser672Pro		52115786	NM_004491	A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	T	13.27	2.186332	0.38609	.	.	ENSG00000160007	ENST00000317082;ENST00000501576;ENST00000404338	T	0.08193	3.12	5.88	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.14399	0.0348	L	0.51422	1.61	0.47308	D	0.999385	P	0.43973	0.823	P	0.48952	0.596	T	0.00573	-1.1664	10	0.52906	T	0.07	-28.7035	11.9243	0.52810	0.0:0.0:0.1452:0.8548	.	672	Q9NRY4-2	.	P	672	ENSP00000385720:S672P	ENSP00000324820:S672P	S	+	1	0	ARHGAP35	52115786	0.985000	0.35326	0.926000	0.36857	0.380000	0.30137	2.800000	0.47900	2.248000	0.74166	0.528000	0.53228	TCC		0.468	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491	
DHDH	27294	broad.mit.edu	37	19	49445771	49445771	+	Missense_Mutation	SNP	G	G	A	rs368374944		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:49445771G>A	ENST00000221403.2	+	5	734	c.694G>A	c.(694-696)Gtg>Atg	p.V232M	DHDH_ENST00000522614.1_Intron|DHDH_ENST00000523250.1_Missense_Mutation_p.V93M	NM_014475.3	NP_055290.1	Q9UQ10	DHDH_HUMAN	dihydrodiol dehydrogenase (dimeric)	232					carbohydrate metabolic process (GO:0005975)|D-xylose catabolic process (GO:0042843)		D-xylose 1-dehydrogenase (NADP+) activity (GO:0047837)|electron carrier activity (GO:0009055)|NAD(P)+ transhydrogenase activity (GO:0008746)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)	p.V232M(1)		central_nervous_system(1)|large_intestine(3)|lung(3)|ovary(1)|soft_tissue(1)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)		CAGCATCACCGTGCAGCTCTC	0.632																																					p.V232M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G694A	19						.	G	MET/VAL	0,4406		0,0,2203	68.0	56.0	60.0		694	-3.7	0.0	19		60	2,8598	2.2+/-6.3	0,2,4298	no	missense	DHDH	NM_014475.3	21	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	232/335	49445771	2,13004	2203	4300	6503	54137583	SO:0001583	missense	27294	exon5			AB021933	CCDS12741.1	19q13.3	2008-02-05			ENSG00000104808	ENSG00000104808	1.3.1.20		17887	protein-coding gene	gene with protein product		606377				10477285	Standard	NM_014475		Approved	HUM2DD	uc002ple.1	Q9UQ10	OTTHUMG00000165029	ENST00000221403.2:c.694G>A	19.37:g.49445771G>A	ENSP00000221403:p.Val232Met		54137583	NM_014475		Missense_Mutation	SNP	ENST00000221403.2	37	CCDS12741.1	.	.	.	.	.	.	.	.	.	.	G	6.475	0.455757	0.12283	0.0	2.33E-4	ENSG00000104808	ENST00000221403;ENST00000523250	T;T	0.22539	1.95;1.95	4.3	-3.69	0.04450	.	0.830755	0.10825	N	0.630008	T	0.14356	0.0347	L	0.48218	1.51	0.09310	N	1	B	0.24092	0.097	B	0.20577	0.03	T	0.28522	-1.0041	10	0.54805	T	0.06	-2.0914	4.1164	0.10083	0.3328:0.0:0.3925:0.2747	.	232	Q9UQ10	DHDH_HUMAN	M	232;93	ENSP00000221403:V232M;ENSP00000428935:V93M	ENSP00000221403:V232M	V	+	1	0	DHDH	54137583	0.000000	0.05858	0.000000	0.03702	0.231000	0.25187	0.255000	0.18333	-0.545000	0.06224	0.484000	0.47621	GTG		0.632	DHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381477.1	NM_014475	
CD37	951	broad.mit.edu	37	19	49841984	49841984	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:49841984C>T	ENST00000323906.4	+	6	616	c.475C>T	c.(475-477)Cag>Tag	p.Q159*	CD37_ENST00000598095.1_Nonsense_Mutation_p.Q91*|CTC-301O7.4_ENST00000358234.4_lincRNA|CD37_ENST00000426897.2_Nonsense_Mutation_p.Q91*|CD37_ENST00000535669.2_Nonsense_Mutation_p.Q159*	NM_001774.2	NP_001765.1	P11049	CD37_HUMAN	CD37 molecule	159					defense response to protozoan (GO:0042832)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid dendritic cell activation (GO:0030886)|positive regulation of immunoglobulin production (GO:0002639)|regulation of defense response to virus (GO:0050688)|regulation of humoral immune response (GO:0002920)	extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.Q159*(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	11		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)		GCACTACCCGCAGGACTGGTT	0.607																																					p.Q91X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C271T	19						.						55.0	49.0	51.0					19																	49841984		2203	4300	6503	54533796	SO:0001587	stop_gained	951	exon6				CCDS12760.1, CCDS46139.1	19p13-q13.4	2013-02-14	2006-03-28			ENSG00000104894		"""CD molecules"", ""Tetraspanins"""	1666	protein-coding gene	gene with protein product		151523	"""CD37 antigen"""			8436422	Standard	XM_005259435		Approved	TSPAN26	uc002pnd.3	P11049		ENST00000323906.4:c.475C>T	19.37:g.49841984C>T	ENSP00000325708:p.Gln159*		54533796	NM_001040031	B4DVC1|Q3KPF9	Nonsense_Mutation	SNP	ENST00000323906.4	37	CCDS12760.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.908488	0.92107	.	.	ENSG00000104894	ENST00000323906;ENST00000426897;ENST00000535669	.	.	.	3.95	2.89	0.33648	.	0.481197	0.19039	N	0.124325	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	9.7164	0.40276	0.0:0.787:0.213:0.0	.	.	.	.	X	159;91;159	.	ENSP00000325708:Q159X	Q	+	1	0	CD37	54533796	0.851000	0.29673	0.914000	0.36105	0.680000	0.39746	1.335000	0.33839	0.745000	0.32763	0.491000	0.48974	CAG		0.607	CD37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465532.1		
ZNF473	25888	broad.mit.edu	37	19	50549242	50549242	+	Silent	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:50549242A>G	ENST00000595661.1	+	6	2037	c.1542A>G	c.(1540-1542)ccA>ccG	p.P514P	ZNF473_ENST00000270617.3_Silent_p.P514P|ZNF473_ENST00000391821.2_Silent_p.P514P|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000445728.3_Silent_p.P502P|CTD-2126E3.3_ENST00000599410.1_RNA			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	514	Interaction with SLBP/pre-mRNA complex.				gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P514P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		TCAAAACCCCATATGAATGTC	0.478																																					p.P514P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1542G	19						.						69.0	62.0	65.0					19																	50549242		2203	4300	6503	55241054	SO:0001819	synonymous_variant	25888	exon5			AB032967	CCDS33077.1	19q13.33	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.1542A>G	19.37:g.50549242A>G			55241054	NM_001006656	A8K8T7|Q9ULS9|Q9Y4Q7	Silent	SNP	ENST00000595661.1	37	CCDS33077.1																																																																																				0.478	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390	
KCNC3	3748	broad.mit.edu	37	19	50826952	50826952	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:50826952G>A	ENST00000477616.1	-	2	1552	c.1258C>T	c.(1258-1260)Cgc>Tgc	p.R420C	KCNC3_ENST00000391818.2_Intron|KCNC3_ENST00000474951.1_Intron|KCNC3_ENST00000376959.2_Missense_Mutation_p.R420C	NM_004977.2	NP_004968.2	Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	420			R -> H (in SCA13; loss of channel activity). {ECO:0000269|PubMed:16501573}.		cell death (GO:0008219)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axolemma (GO:0030673)|axon terminus (GO:0043679)|dendrite membrane (GO:0032590)|neuromuscular junction (GO:0031594)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)	p.R420C(1)		endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)	Dalfampridine(DB06637)	CGCAGGATGCGGACGAAGCGG	0.652																																					p.R420C	Melanoma(91;1496 2324 50908)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1258T	19						.						75.0	74.0	74.0					19																	50826952		2203	4300	6503	55518764	SO:0001583	missense	3748	exon2			AB208930	CCDS12793.1	19q13.33	2014-09-17			ENSG00000131398	ENSG00000131398		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6235	protein-coding gene	gene with protein product		176264	"""spinocerebellar ataxia 13"""	SCA13		1740329, 8111118, 16382104	Standard	NM_004977		Approved	Kv3.3	uc002pru.1	Q14003	OTTHUMG00000044580	ENST00000477616.1:c.1258C>T	19.37:g.50826952G>A	ENSP00000434241:p.Arg420Cys		55518764	NM_004977		Missense_Mutation	SNP	ENST00000477616.1	37	CCDS12793.1	.	.	.	.	.	.	.	.	.	.	g	16.33	3.093769	0.56075	.	.	ENSG00000131398	ENST00000376959;ENST00000477616;ENST00000443843	D;D	0.99652	-6.3;-6.3	3.04	0.622	0.17648	Ion transport (1);	0.000000	0.64402	U	0.000010	D	0.99651	0.9871	H	0.96048	3.76	0.80722	D	1	D;D	0.89917	1.0;0.987	D;D	0.97110	1.0;0.965	D	0.99278	1.0895	10	0.54805	T	0.06	.	9.7704	0.40587	0.0:0.0:0.4735:0.5265	.	420;420	Q14003;E7ETH1	KCNC3_HUMAN;.	C	420;420;234	ENSP00000366158:R420C;ENSP00000434241:R420C	ENSP00000366158:R420C	R	-	1	0	KCNC3	55518764	1.000000	0.71417	0.358000	0.25811	0.961000	0.63080	3.477000	0.53151	0.103000	0.17682	0.486000	0.48141	CGC		0.652	KCNC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314288.2	NM_004977	
POLD1	5424	broad.mit.edu	37	19	50905323	50905323	+	Silent	SNP	C	C	T	rs150702648		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:50905323C>T	ENST00000440232.2	+	5	584	c.531C>T	c.(529-531)cgC>cgT	p.R177R	POLD1_ENST00000595904.1_Silent_p.R177R|POLD1_ENST00000599857.1_Silent_p.R177R	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	177			R -> H (in dbSNP:rs3218750). {ECO:0000269|Ref.3}.		base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.R177R(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GGGACAGTCGCGGGGGGAGGG	0.672								DNA polymerases (catalytic subunits)					C|||	1	0.000199681	0.0	0.0	5008	,	,		13525	0.001		0.0	False		,,,				2504	0.0				p.R177R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C531T	19						.	C		1,4405	2.1+/-5.4	0,1,2202	32.0	39.0	36.0		531	-8.6	0.4	19	dbSNP_134	36	0,8600		0,0,4300	no	coding-synonymous	POLD1	NM_002691.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		177/1108	50905323	1,13005	2203	4300	6503	55597135	SO:0001819	synonymous_variant	5424	exon5				CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"""DNA polymerases"""	9175	protein-coding gene	gene with protein product	"""CDC2 homolog (S. cerevisiae)"""	174761	"""polymerase (DNA directed), delta 1, catalytic subunit (125kD)"""	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.531C>T	19.37:g.50905323C>T			55597135	NM_002691	Q8NER3|Q96H98	Silent	SNP	ENST00000440232.2	37	CCDS12795.1																																																																																				0.672	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1		
ASPDH	554235	broad.mit.edu	37	19	51016242	51016242	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:51016242G>A	ENST00000389208.4	-	3	285	c.224C>T	c.(223-225)gCc>gTc	p.A75V	ASPDH_ENST00000597030.1_Intron|ASPDH_ENST00000376916.3_Missense_Mutation_p.A20V|JOSD2_ENST00000391815.3_5'Flank|JOSD2_ENST00000598418.1_5'Flank|JOSD2_ENST00000601423.1_5'Flank|JOSD2_ENST00000595669.1_5'Flank	NM_001114598.1	NP_001108070.1	A6ND91	ASPD_HUMAN	aspartate dehydrogenase domain containing	75					NAD biosynthetic process (GO:0009435)|NADP catabolic process (GO:0006742)		aspartate dehydrogenase activity (GO:0033735)|NADP binding (GO:0050661)	p.A20V(1)		endometrium(1)|large_intestine(1)|lung(1)	3						TTTGGGATGGGCCACTTCCAC	0.582																																					p.A20V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C59T	19						.						97.0	98.0	97.0					19																	51016242		2203	4300	6503	55708054	SO:0001583	missense	554235	exon2				CCDS33082.1, CCDS46153.1	19q13.33	2012-10-02			ENSG00000204653	ENSG00000204653			33856	protein-coding gene	gene with protein product							Standard	NM_001024656		Approved		uc010enz.3	A6ND91		ENST00000389208.4:c.224C>T	19.37:g.51016242G>A	ENSP00000373860:p.Ala75Val		55708054	NM_001024656	Q6NZ37	Missense_Mutation	SNP	ENST00000389208.4	37	CCDS46153.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.386730	0.82902	.	.	ENSG00000204653	ENST00000376916;ENST00000389208	T;T	0.71698	0.45;-0.59	3.9	3.9	0.45041	Aspartate/homoserine dehydrogenase, NAD-binding (1);NAD(P)-binding domain (1);	0.171074	0.40818	N	0.001011	D	0.82476	0.5045	M	0.78049	2.395	0.36620	D	0.875681	D;D	0.76494	0.999;0.996	D;D	0.87578	0.998;0.986	D	0.87038	0.2139	10	0.72032	D	0.01	-16.1341	11.7459	0.51819	0.0:0.0:1.0:0.0	.	75;20	A6ND91;A6ND91-2	ASPD_HUMAN;.	V	20;75	ENSP00000366114:A20V;ENSP00000373860:A75V	ENSP00000366114:A20V	A	-	2	0	ASPDH	55708054	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.155000	0.50700	1.889000	0.54706	0.555000	0.69702	GCC		0.582	ASPDH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464861.1	NM_001024656	
SYT3	84258	broad.mit.edu	37	19	51133246	51133246	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:51133246C>T	ENST00000338916.4	-	3	1490	c.857G>A	c.(856-858)gGt>gAt	p.G286D	SYT3_ENST00000593901.1_Missense_Mutation_p.G286D|SYT3_ENST00000600079.1_Missense_Mutation_p.G286D|SYT3_ENST00000544769.1_Missense_Mutation_p.G286D	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	286					calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)	p.G286D(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		TGGGCCCCCACCGCTCCGCCG	0.657																																					p.G286D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G857A	19						.						57.0	62.0	60.0					19																	51133246		2203	4299	6502	55825058	SO:0001583	missense	84258	exon3			AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"""Synaptotagmins"""	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.857G>A	19.37:g.51133246C>T	ENSP00000340914:p.Gly286Asp		55825058	NM_032298	Q8N5Z1|Q8N640	Missense_Mutation	SNP	ENST00000338916.4	37	CCDS12798.1	.	.	.	.	.	.	.	.	.	.	C	0.450	-0.894427	0.02491	.	.	ENSG00000213023	ENST00000338916;ENST00000544769	T;T	0.59638	0.25;0.25	4.35	2.07	0.26955	.	.	.	.	.	T	0.34250	0.0891	N	0.08118	0	0.35214	D	0.775406	B	0.34061	0.436	B	0.24974	0.057	T	0.43130	-0.9410	9	0.59425	D	0.04	.	13.435	0.61079	0.0:0.7316:0.2684:0.0	.	286	Q9BQG1	SYT3_HUMAN	D	286	ENSP00000340914:G286D;ENSP00000438883:G286D	ENSP00000340914:G286D	G	-	2	0	SYT3	55825058	0.093000	0.21703	0.127000	0.21898	0.034000	0.12701	0.878000	0.28126	0.350000	0.24002	0.655000	0.94253	GGT		0.657	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464910.1	NM_032298	
IGLON5	402665	broad.mit.edu	37	19	51831972	51831972	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:51831972G>A	ENST00000270642.8	+	8	970	c.970G>A	c.(970-972)Gcc>Acc	p.A324T		NM_001101372.1	NP_001094842.1	A6NGN9	IGLO5_HUMAN	IgLON family member 5	324						extracellular region (GO:0005576)		p.A324T(1)		large_intestine(5)|lung(6)|prostate(1)	12						AGGGCTCCTGGCCCTCCTCTC	0.672																																					p.A324T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G970A	19						.						14.0	17.0	16.0					19																	51831972		1844	4082	5926	56523784	SO:0001583	missense	402665	exon8				CCDS46158.1	19q13.33	2013-01-29			ENSG00000142549	ENSG00000142549		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	34550	protein-coding gene	gene with protein product							Standard	NM_001101372		Approved	LOC402665	uc002pwc.2	A6NGN9	OTTHUMG00000154422	ENST00000270642.8:c.970G>A	19.37:g.51831972G>A	ENSP00000270642:p.Ala324Thr		56523784	NM_001101372		Missense_Mutation	SNP	ENST00000270642.8	37	CCDS46158.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.561583	0.27915	.	.	ENSG00000142549	ENST00000270642	T	0.56776	0.44	5.09	-3.61	0.04556	.	1.251980	0.05613	N	0.578488	T	0.34221	0.0890	N	0.17082	0.46	0.23138	N	0.998231	B	0.02656	0.0	B	0.01281	0.0	T	0.29792	-1.0000	10	0.12766	T	0.61	-12.2149	13.5153	0.61537	0.2302:0.0:0.7698:0.0	.	324	A6NGN9	IGLO5_HUMAN	T	324	ENSP00000270642:A324T	ENSP00000270642:A324T	A	+	1	0	IGLON5	56523784	0.998000	0.40836	0.985000	0.45067	0.985000	0.73830	0.221000	0.17680	-0.673000	0.05259	0.462000	0.41574	GCC		0.672	IGLON5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335149.1	NM_001101372	
ZNF175	7728	broad.mit.edu	37	19	52090220	52090220	+	Silent	SNP	C	C	T	rs143236411	byFrequency	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:52090220C>T	ENST00000262259.2	+	5	994	c.636C>T	c.(634-636)aaC>aaT	p.N212N	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	212					defense response to virus (GO:0051607)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N212N(1)		NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		TAGAAGTGAACGGTCAGAATG	0.443																																					p.N212N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C636T	19						.	C		6,4398	11.4+/-27.6	0,6,2196	83.0	77.0	79.0		636	-0.6	0.0	19	dbSNP_134	79	0,8598		0,0,4299	no	coding-synonymous	ZNF175	NM_007147.2		0,6,6495	TT,TC,CC		0.0,0.1362,0.0461		212/712	52090220	6,12996	2202	4299	6501	56782032	SO:0001819	synonymous_variant	7728	exon5			D50419	CCDS12837.1	19q13.4	2013-01-08			ENSG00000105497	ENSG00000105497		"""Zinc fingers, C2H2-type"", ""-"""	12964	protein-coding gene	gene with protein product		601139				8838321	Standard	NM_007147		Approved	OTK18	uc002pxb.3	Q9Y473	OTTHUMG00000167771	ENST00000262259.2:c.636C>T	19.37:g.52090220C>T			56782032	NM_007147	A8K9H2	Silent	SNP	ENST00000262259.2	37	CCDS12837.1																																																																																				0.443	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396205.1	NM_007147	
ZNF175	7728	broad.mit.edu	37	19	52090510	52090510	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:52090510G>A	ENST00000262259.2	+	5	1284	c.926G>A	c.(925-927)tGt>tAt	p.C309Y	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	309					defense response to virus (GO:0051607)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C309Y(1)		NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		CTCCATGAATGTGGCAAATGT	0.438																																					p.C309Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G926A	19						.						91.0	94.0	93.0					19																	52090510		2203	4300	6503	56782322	SO:0001583	missense	7728	exon5			D50419	CCDS12837.1	19q13.4	2013-01-08			ENSG00000105497	ENSG00000105497		"""Zinc fingers, C2H2-type"", ""-"""	12964	protein-coding gene	gene with protein product		601139				8838321	Standard	NM_007147		Approved	OTK18	uc002pxb.3	Q9Y473	OTTHUMG00000167771	ENST00000262259.2:c.926G>A	19.37:g.52090510G>A	ENSP00000262259:p.Cys309Tyr		56782322	NM_007147	A8K9H2	Missense_Mutation	SNP	ENST00000262259.2	37	CCDS12837.1	.	.	.	.	.	.	.	.	.	.	G	9.349	1.065044	0.20067	.	.	ENSG00000105497	ENST00000262259	T	0.72394	-0.65	2.41	1.36	0.22044	Zinc finger, C2H2 (1);	.	.	.	.	T	0.76190	0.3953	H	0.95712	3.71	0.80722	D	1	B	0.25563	0.129	B	0.27262	0.078	T	0.75093	-0.3439	9	0.62326	D	0.03	.	7.4453	0.27207	0.1411:0.0:0.8589:0.0	.	309	Q9Y473	ZN175_HUMAN	Y	309	ENSP00000262259:C309Y	ENSP00000262259:C309Y	C	+	2	0	ZNF175	56782322	1.000000	0.71417	0.004000	0.12327	0.099000	0.18886	5.982000	0.70532	0.589000	0.29677	-0.163000	0.13421	TGT		0.438	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396205.1	NM_007147	
PPP2R1A	5518	broad.mit.edu	37	19	52724361	52724361	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:52724361G>A	ENST00000322088.6	+	12	1551	c.1493G>A	c.(1492-1494)cGc>cAc	p.R498H	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.R443H|CTD-2525I3.3_ENST00000593857.1_RNA|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.R319H	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	498	PP2A subunit C binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		TACCTGCACCGCATGACTACG	0.572			Mis		clear cell ovarian carcinoma																																p.R498H			Dom?	yes		19	19q13.41	5518	"""protein phosphatase 2, regulatory subunit A, alpha"""		E	.	.	0			c.G1493A	19						.						168.0	139.0	149.0					19																	52724361		2203	4300	6503	57416173	SO:0001583	missense	5518	exon12				CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9302	protein-coding gene	gene with protein product	"""protein phosphatase 2A, regulatory subunit A, alpha isoform"", ""protein phosphatase 2, 65kDa regulatory subunit A"""	605983	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"""				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.1493G>A	19.37:g.52724361G>A	ENSP00000324804:p.Arg498His		57416173	NM_014225	Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.118398	0.77323	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000436460;ENST00000444322	T;T	0.55052	0.54;0.54	4.67	3.63	0.41609	Armadillo-like helical (1);Armadillo-type fold (1);	0.100234	0.40144	N	0.001161	T	0.79621	0.4477	H	0.96662	3.86	0.53005	D	0.999962	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84438	0.0581	10	0.87932	D	0	-9.5593	10.7389	0.46141	0.0931:0.0:0.9069:0.0	.	443;498	F5H3X9;P30153	.;2AAA_HUMAN	H	488;418;498;65;443	ENSP00000324804:R498H;ENSP00000415067:R443H	ENSP00000324804:R498H	R	+	2	0	PPP2R1A	57416173	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	8.837000	0.92110	1.325000	0.45301	0.655000	0.94253	CGC		0.572	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225	
FUT5	2527	broad.mit.edu	37	19	5866957	5866957	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:5866957G>A	ENST00000588525.1	-	2	867	c.780C>T	c.(778-780)ttC>ttT	p.F260F	FUT5_ENST00000252675.5_Silent_p.F260F	NM_002034.2	NP_002025.2	Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	260					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)	p.F260F(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						AGGAGTTCTCGAAGGCCAGAT	0.622																																					p.F260F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C780T	19						.						70.0	72.0	71.0					19																	5866957		2202	4297	6499	5817957	SO:0001819	synonymous_variant	2527	exon2				CCDS12154.1	19p13.3	2013-02-26				ENSG00000130383	2.4.1.65	"""Fucosyltransferases"""	4016	protein-coding gene	gene with protein product		136835				1740457	Standard	NM_002034		Approved	FUC-TV	uc002mdo.4	Q11128	OTTHUMG00000180616	ENST00000588525.1:c.780C>T	19.37:g.5866957G>A			5817957	NM_002034	A8K4X2	Silent	SNP	ENST00000588525.1	37	CCDS12154.1																																																																																				0.622	FUT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452213.1	NM_002034	
ZNF808	388558	broad.mit.edu	37	19	53058500	53058500	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:53058500C>T	ENST00000359798.4	+	5	2511	c.2331C>T	c.(2329-2331)tcC>tcT	p.S777S		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	777					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		ACTGGTCATCCCTTGTATACC	0.433																																					p.S777S												.	.	0			c.C2331T	19						.						197.0	200.0	199.0					19																	53058500		2203	4300	6503	57750312	SO:0001819	synonymous_variant	388558	exon5			CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"""Zinc fingers, C2H2-type"", ""-"""	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.2331C>T	19.37:g.53058500C>T			57750312	NM_001039886	Q68CN7	Silent	SNP	ENST00000359798.4	37	CCDS46167.1																																																																																				0.433	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350447.3	NM_001039886	
CNOT3	4849	broad.mit.edu	37	19	54651972	54651972	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:54651972G>A	ENST00000406403.1	+	10	2587	c.984G>A	c.(982-984)ccG>ccA	p.P328P	CNOT3_ENST00000358389.3_Silent_p.P147P|CNOT3_ENST00000221232.5_Silent_p.P328P			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	328	Pro-rich.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)		p.P328P(1)|p.P147P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCGGCCCCCCGCCTGCTGCCT	0.697																																					p.P328P												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G984A	19						.						19.0	21.0	20.0					19																	54651972		2192	4290	6482	59343784	SO:0001819	synonymous_variant	4849	exon11			AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.984G>A	19.37:g.54651972G>A			59343784	NM_014516	Q9NZN7|Q9UF76	Silent	SNP	ENST00000406403.1	37	CCDS12880.1	.	.	.	.	.	.	.	.	.	.	G	1.374	-0.585266	0.03827	.	.	ENSG00000088038	ENST00000440571	.	.	.	3.3	-4.65	0.03339	.	.	.	.	.	T	0.47248	0.1435	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	T	0.46541	-0.9184	4	.	.	.	-2.2395	5.6095	0.17398	0.4863:0.1419:0.3718:0.0	.	.	.	.	H	250	.	.	R	+	2	0	CNOT3	59343784	0.000000	0.05858	0.533000	0.28001	0.154000	0.21943	-1.892000	0.01610	-0.581000	0.05937	-0.657000	0.03884	CGC		0.697	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516	
NLRP7	199713	broad.mit.edu	37	19	55451643	55451643	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:55451643C>T	ENST00000590030.1	-	3	584	c.544G>A	c.(544-546)Gtg>Atg	p.V182M	NLRP7_ENST00000448121.2_Missense_Mutation_p.V182M|NLRP7_ENST00000328092.5_Missense_Mutation_p.V182M|NLRP7_ENST00000588756.1_Missense_Mutation_p.V182M|NLRP7_ENST00000446217.1_Missense_Mutation_p.V210M|NLRP7_ENST00000340844.2_Missense_Mutation_p.V182M|NLRP7_ENST00000592784.1_Missense_Mutation_p.V182M			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	182	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)	p.V182M(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GTTTTCCCCACGCCTGCGGGG	0.562																																					p.V182M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G544A	19						.						118.0	121.0	120.0					19																	55451643		2203	4300	6503	60143455	SO:0001583	missense	199713	exon4			AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.544G>A	19.37:g.55451643C>T	ENSP00000465520:p.Val182Met		60143455	NM_139176	E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.888316	0.33348	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217	D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62	1.87	0.803	0.18691	NACHT nucleoside triphosphatase (1);	1.452680	0.05222	N	0.508734	T	0.80308	0.4599	L	0.28694	0.88	0.09310	N	0.999996	D;D;D;D	0.56968	0.978;0.978;0.978;0.973	P;P;P;P	0.51385	0.668;0.668;0.668;0.538	T	0.68209	-0.5469	10	0.72032	D	0.01	.	6.5523	0.22442	0.0:0.8346:0.0:0.1654	.	210;182;182;182	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	M	182;182;182;210	ENSP00000329568:V182M;ENSP00000409137:V182M;ENSP00000339491:V182M;ENSP00000414273:V210M	ENSP00000329568:V182M	V	-	1	0	NLRP7	60143455	0.001000	0.12720	0.008000	0.14137	0.074000	0.17049	-0.006000	0.12833	0.350000	0.24002	0.455000	0.32223	GTG		0.562	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176	
PTPRH	5794	broad.mit.edu	37	19	55699455	55699455	+	Silent	SNP	G	G	A	rs149252651		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:55699455G>A	ENST00000376350.3	-	13	2488	c.2466C>T	c.(2464-2466)gaC>gaT	p.D822D	PTPRH_ENST00000263434.5_Silent_p.D644D	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	822	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.D822D(1)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CCTGGTACTTGTCTGCAAAAC	0.632																																					p.D822D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2466T	19						.	G	,	1,4405		0,1,2202	148.0	113.0	125.0		1932,2466	-3.0	0.2	19	dbSNP_134	125	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PTPRH	NM_001161440.1,NM_002842.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	644/938,822/1116	55699455	1,13005	2203	4300	6503	60391267	SO:0001819	synonymous_variant	5794	exon13				CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.2466C>T	19.37:g.55699455G>A			60391267	NM_002842	C9JCH2|Q15426|Q2NKN9|Q2NKP0	Silent	SNP	ENST00000376350.3	37	CCDS33110.1																																																																																				0.632	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1		
BRSK1	84446	broad.mit.edu	37	19	55800961	55800961	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:55800961T>A	ENST00000309383.1	+	4	708	c.431T>A	c.(430-432)cTg>cAg	p.L144Q	BRSK1_ENST00000585418.1_Missense_Mutation_p.L144Q|BRSK1_ENST00000590333.1_Missense_Mutation_p.L160Q	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	144	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)	p.L144Q(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GTGTCTGCGCTGGACTTCTGC	0.622																																					p.L144Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T431A	19						.						69.0	51.0	57.0					19																	55800961		2203	4300	6503	60492773	SO:0001583	missense	84446	exon4			AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.431T>A	19.37:g.55800961T>A	ENSP00000310649:p.Leu144Gln		60492773	NM_032430	F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Missense_Mutation	SNP	ENST00000309383.1	37	CCDS12921.1	.	.	.	.	.	.	.	.	.	.	.	19.65	3.867383	0.72065	.	.	ENSG00000160469	ENST00000309383	T	0.51574	0.7	5.33	5.33	0.75918	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000020	T	0.73009	0.3532	M	0.88450	2.955	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.983	T	0.79193	-0.1904	10	0.87932	D	0	.	14.6053	0.68475	0.0:0.0:0.0:1.0	.	144;160	Q8TDC3;Q8TDC3-2	BRSK1_HUMAN;.	Q	144	ENSP00000310649:L144Q	ENSP00000310649:L144Q	L	+	2	0	BRSK1	60492773	1.000000	0.71417	0.991000	0.47740	0.398000	0.30690	7.559000	0.82265	2.159000	0.67721	0.370000	0.22315	CTG		0.622	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	NM_032430	
ACSBG2	81616	broad.mit.edu	37	19	6177394	6177394	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:6177394C>T	ENST00000586696.1	+	8	1169	c.893C>T	c.(892-894)gCa>gTa	p.A298V	ACSBG2_ENST00000591403.1_Missense_Mutation_p.A298V|ACSBG2_ENST00000252669.5_Missense_Mutation_p.A298V|ACSBG2_ENST00000588304.1_Missense_Mutation_p.A248V|ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000588485.1_Missense_Mutation_p.A111V			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	298					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid metabolic process (GO:0001676)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)	p.A298V(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTTGCTCAAGCAGATGCTCTC	0.498																																					p.A298V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C893T	19						.						57.0	48.0	51.0					19																	6177394		2203	4300	6503	6128394	SO:0001583	missense	81616	exon8				CCDS12159.1, CCDS74269.1	19p13.3	2012-10-02			ENSG00000130377	ENSG00000130377		"""Acyl-CoA synthetase family"""	24174	protein-coding gene	gene with protein product	"""bubblegum related protein"""	614363				11230166	Standard	XM_005259653		Approved	BGR, PRTD-NY3, DKFZp434K1635	uc002meh.1	Q5FVE4	OTTHUMG00000180754	ENST00000586696.1:c.893C>T	19.37:g.6177394C>T	ENSP00000465589:p.Ala298Val		6128394	NM_030924	B3KSF2|Q6UWJ3|Q7Z5A0|Q8WW03|Q96M36|Q9BYZ3|Q9H0C4	Missense_Mutation	SNP	ENST00000586696.1	37	CCDS12159.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.426552	0.43020	.	.	ENSG00000130377	ENST00000252669	T	0.41400	1.0	4.48	3.44	0.39384	AMP-dependent synthetase/ligase (1);	0.727689	0.11340	N	0.574158	T	0.27419	0.0673	N	0.11560	0.145	0.28694	N	0.90441	B;B	0.25312	0.087;0.123	B;B	0.29440	0.102;0.102	T	0.26121	-1.0112	10	0.46703	T	0.11	-3.7109	11.1914	0.48687	0.0:0.9097:0.0:0.0903	.	298;298	B4DYU1;Q5FVE4	.;ACBG2_HUMAN	V	298	ENSP00000252669:A298V	ENSP00000252669:A298V	A	+	2	0	ACSBG2	6128394	0.999000	0.42202	0.058000	0.19502	0.388000	0.30384	7.206000	0.77891	1.101000	0.41535	0.650000	0.86243	GCA		0.498	ACSBG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452898.1	NM_030924	
NLRP9	338321	broad.mit.edu	37	19	56244283	56244283	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:56244283G>A	ENST00000332836.2	-	2	941	c.914C>T	c.(913-915)tCg>tTg	p.S305L		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	305	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.S305*(1)|p.S305L(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GGAGAAATACGACTTCTTTTC	0.383																																					p.S305L												.	.	2	Substitution - Nonsense(1)|Substitution - Missense(1)	large_intestine(1)|lung(1)	c.C914T	19						.						59.0	58.0	58.0					19																	56244283		2203	4300	6503	60936095	SO:0001583	missense	338321	exon2			AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.914C>T	19.37:g.56244283G>A	ENSP00000331857:p.Ser305Leu		60936095	NM_176820	B2RN12|Q86W27	Missense_Mutation	SNP	ENST00000332836.2	37	CCDS12934.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.121308	0.00346	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	T	0.63580	-0.05	2.46	-4.92	0.03075	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.18841	0.0452	N	0.00538	-1.39	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.22382	-1.0218	9	0.06891	T	0.86	.	4.4722	0.11717	0.1987:0.0:0.2205:0.5808	.	305	Q7RTR0	NALP9_HUMAN	L	305	ENSP00000331857:S305L	ENSP00000331857:S305L	S	-	2	0	NLRP9	60936095	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.250000	0.18235	-1.403000	0.02053	-1.385000	0.01166	TCG		0.383	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820	
ZNF264	9422	broad.mit.edu	37	19	57723879	57723879	+	Missense_Mutation	SNP	C	C	T	rs193291802		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:57723879C>T	ENST00000263095.6	+	4	1828	c.1414C>T	c.(1414-1416)Cgc>Tgc	p.R472C	ZNF264_ENST00000536056.1_Missense_Mutation_p.R472C	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	472					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.R472C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		GGACCTCATTCGCCACTTCAG	0.527													c|||	1	0.000199681	0.0	0.0	5008	,	,		21449	0.0		0.001	False		,,,				2504	0.0				p.R472C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1414T	19						.	C	CYS/ARG	0,4406		0,0,2203	64.0	64.0	64.0		1414	1.2	0.5	19		64	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF264	NM_003417.4	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	472/628	57723879	1,13005	2203	4300	6503	62415691	SO:0001583	missense	9422	exon4			AB007872	CCDS33127.1	19q13.4	2013-01-08				ENSG00000083844		"""Zinc fingers, C2H2-type"", ""-"""	13057	protein-coding gene	gene with protein product		604668				9455477	Standard	NM_003417		Approved	KIAA0412	uc002qob.3	O43296		ENST00000263095.6:c.1414C>T	19.37:g.57723879C>T	ENSP00000263095:p.Arg472Cys		62415691	NM_003417	A8K8Y9|Q9P1V0	Missense_Mutation	SNP	ENST00000263095.6	37	CCDS33127.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	12.55	1.972298	0.34754	0.0	1.16E-4	ENSG00000083844	ENST00000263095;ENST00000536056	T;T	0.07800	3.16;3.16	2.35	1.25	0.21368	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.25306	0.0615	M	0.87038	2.855	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.13229	-1.0517	9	0.52906	T	0.07	.	1.4887	0.02452	0.209:0.4491:0.2053:0.1366	.	472	O43296	ZN264_HUMAN	C	472	ENSP00000263095:R472C;ENSP00000440376:R472C	ENSP00000263095:R472C	R	+	1	0	ZNF264	62415691	0.000000	0.05858	0.535000	0.28026	0.790000	0.44656	-1.875000	0.01634	0.533000	0.28675	0.491000	0.48974	CGC		0.527	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465080.1		
ZNF419	79744	broad.mit.edu	37	19	58005306	58005306	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:58005306G>A	ENST00000221735.7	+	5	1567	c.1381G>A	c.(1381-1383)Ggg>Agg	p.G461R	ZNF419_ENST00000426954.2_Missense_Mutation_p.G449R|ZNF419_ENST00000442920.2_Missense_Mutation_p.G448R|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000354197.4_Intron|ZNF419_ENST00000424930.2_Missense_Mutation_p.G462R|ZNF419_ENST00000347466.6_Missense_Mutation_p.G429R|ZNF419_ENST00000415379.2_Missense_Mutation_p.G415R			Q96HQ0	ZN419_HUMAN	zinc finger protein 419	461					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.G429R(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		CAATGAATGTGGGAGATTGTT	0.428																																					p.G429R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1285A	19						.						114.0	120.0	118.0					19																	58005306		2203	4300	6503	62697118	SO:0001583	missense	79744	exon4			AK026886	CCDS42637.1, CCDS46211.1, CCDS54325.1, CCDS54326.1, CCDS54327.1, CCDS54328.1	19q13.43	2013-01-08	2006-12-15	2006-12-15	ENSG00000105136	ENSG00000105136		"""Zinc fingers, C2H2-type"", ""-"""	20648	protein-coding gene	gene with protein product			"""zinc finger protein 419A"""	ZNF419A			Standard	NM_001098492		Approved		uc010ety.1	Q96HQ0	OTTHUMG00000037073	ENST00000221735.7:c.1381G>A	19.37:g.58005306G>A	ENSP00000221735:p.Gly461Arg		62697118	NM_001098494	B4DXU7|B4E348|B7ZA41|E9PCP4|E9PED0|E9PET3|E9PFX9|Q9H5P0	Missense_Mutation	SNP	ENST00000221735.7	37	CCDS54326.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.597210	0.66332	.	.	ENSG00000105136	ENST00000424930;ENST00000426954;ENST00000442920;ENST00000347466;ENST00000415379;ENST00000221735	T;T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94;1.94	2.36	2.36	0.29203	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42200	0.1192	M	0.71920	2.185	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.997;0.997;1.0;0.997;0.997;0.995;0.997	T	0.34850	-0.9812	8	.	.	.	.	11.7894	0.52061	0.0:0.0:1.0:0.0	.	415;415;448;449;462;429;461	E9PFX9;B4DXU7;E9PCP4;E9PET3;E9PED0;Q96HQ0-2;Q96HQ0	.;.;.;.;.;.;ZN419_HUMAN	R	462;449;448;429;415;461	ENSP00000388864:G462R;ENSP00000390916:G449R;ENSP00000414709:G448R;ENSP00000299860:G429R;ENSP00000392129:G415R;ENSP00000221735:G461R	.	G	+	1	0	ZNF419	62697118	1.000000	0.71417	0.118000	0.21660	0.442000	0.32017	3.661000	0.54503	1.301000	0.44836	0.205000	0.17691	GGG		0.428	ZNF419-006	KNOWN	NAGNAG_splice_site|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378506.1	NM_024691	
ZNF419	79744	broad.mit.edu	37	19	58005402	58005402	+	Missense_Mutation	SNP	C	C	T	rs370135825		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:58005402C>T	ENST00000221735.7	+	5	1663	c.1477C>T	c.(1477-1479)Cgc>Tgc	p.R493C	ZNF419_ENST00000426954.2_Missense_Mutation_p.R481C|ZNF419_ENST00000442920.2_Missense_Mutation_p.R480C|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000354197.4_Missense_Mutation_p.R425C|ZNF419_ENST00000424930.2_Missense_Mutation_p.R494C|ZNF419_ENST00000347466.6_Missense_Mutation_p.R461C|ZNF419_ENST00000415379.2_Missense_Mutation_p.R447C			Q96HQ0	ZN419_HUMAN	zinc finger protein 419	493					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.R461C(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		GAAGTTTTTTCGCCACAACTC	0.433																																					p.R461C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1381T	19						.	C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	1,4397	2.1+/-5.4	0,1,2198	83.0	88.0	86.0		1480,1441,1438,1381,1342,1339,1477	-3.8	0.0	19		86	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense,missense	ZNF419	NM_001098491.1,NM_001098492.1,NM_001098493.1,NM_001098494.1,NM_001098495.1,NM_001098496.1,NM_024691.3	180,180,180,180,180,180,180	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign,benign,benign,benign	494/512,481/499,480/498,461/479,448/466,447/465,493/511	58005402	1,12997	2199	4300	6499	62697214	SO:0001583	missense	79744	exon4			AK026886	CCDS42637.1, CCDS46211.1, CCDS54325.1, CCDS54326.1, CCDS54327.1, CCDS54328.1	19q13.43	2013-01-08	2006-12-15	2006-12-15	ENSG00000105136	ENSG00000105136		"""Zinc fingers, C2H2-type"", ""-"""	20648	protein-coding gene	gene with protein product			"""zinc finger protein 419A"""	ZNF419A			Standard	NM_001098492		Approved		uc010ety.1	Q96HQ0	OTTHUMG00000037073	ENST00000221735.7:c.1477C>T	19.37:g.58005402C>T	ENSP00000221735:p.Arg493Cys		62697214	NM_001098494	B4DXU7|B4E348|B7ZA41|E9PCP4|E9PED0|E9PET3|E9PFX9|Q9H5P0	Missense_Mutation	SNP	ENST00000221735.7	37	CCDS54326.1	.	.	.	.	.	.	.	.	.	.	C	7.764	0.705986	0.15172	2.27E-4	0.0	ENSG00000105136	ENST00000424930;ENST00000426954;ENST00000354197;ENST00000442920;ENST00000347466;ENST00000415379;ENST00000221735	T;T;T;T;T;T;T	0.18502	2.21;2.21;3.19;2.21;2.21;2.21;2.21	1.93	-3.85	0.04243	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27697	0.0681	M	0.71871	2.18	0.09310	N	1	D;D;P;P;D;D;B	0.60575	0.988;0.967;0.926;0.768;0.988;0.985;0.237	P;P;P;B;P;P;B	0.55923	0.679;0.679;0.47;0.37;0.787;0.55;0.26	T	0.07462	-1.0771	9	0.46703	T	0.11	.	8.0357	0.30491	0.684:0.1792:0.1368:0.0	.	447;447;480;481;494;461;493	E9PFX9;B4DXU7;E9PCP4;E9PET3;E9PED0;Q96HQ0-2;Q96HQ0	.;.;.;.;.;.;ZN419_HUMAN	C	494;481;425;480;461;447;493	ENSP00000388864:R494C;ENSP00000390916:R481C;ENSP00000346136:R425C;ENSP00000414709:R480C;ENSP00000299860:R461C;ENSP00000392129:R447C;ENSP00000221735:R493C	ENSP00000221735:R493C	R	+	1	0	ZNF419	62697214	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-4.816000	0.00182	-2.166000	0.00780	-1.048000	0.02349	CGC		0.433	ZNF419-006	KNOWN	NAGNAG_splice_site|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378506.1	NM_024691	
ZSCAN4	201516	broad.mit.edu	37	19	58189639	58189639	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:58189639A>T	ENST00000318203.5	+	5	1365	c.668A>T	c.(667-669)cAg>cTg	p.Q223L		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	223					telomere maintenance via telomere lengthening (GO:0010833)|transcription, DNA-templated (GO:0006351)	nuclear chromosome, telomeric region (GO:0000784)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q223L(1)		endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATCATCATCCAGGAAGAGAAC	0.423																																					p.Q223L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A668T	19						.						72.0	69.0	70.0					19																	58189639		2203	4300	6503	62881451	SO:0001583	missense	201516	exon5			AK092424	CCDS12958.1	19q13.43	2013-01-08	2004-11-01	2004-11-02		ENSG00000180532		"""-"", ""Zinc fingers, C2H2-type"""	23709	protein-coding gene	gene with protein product		613419	"""zinc finger protein 494"""	ZNF494			Standard	NM_152677		Approved	FLJ35105	uc002qpu.3	Q8NAM6		ENST00000318203.5:c.668A>T	19.37:g.58189639A>T	ENSP00000321963:p.Gln223Leu		62881451	NM_152677	Q3MIQ2	Missense_Mutation	SNP	ENST00000318203.5	37	CCDS12958.1	.	.	.	.	.	.	.	.	.	.	A	11.01	1.513139	0.27123	.	.	ENSG00000180532	ENST00000318203	T	0.08193	3.12	4.13	-0.603	0.11630	.	0.614537	0.14643	N	0.307120	T	0.04815	0.0130	L	0.34521	1.04	0.09310	N	1	B	0.21821	0.061	B	0.20384	0.029	T	0.38993	-0.9635	10	0.30854	T	0.27	-5.7332	0.5651	0.00686	0.4529:0.1766:0.1997:0.1708	.	223	Q8NAM6	ZSCA4_HUMAN	L	223	ENSP00000321963:Q223L	ENSP00000321963:Q223L	Q	+	2	0	ZSCAN4	62881451	0.036000	0.19791	0.000000	0.03702	0.005000	0.04900	-0.273000	0.08548	-0.209000	0.10156	-0.256000	0.11100	CAG		0.423	ZSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466812.1	NM_152677	
ZNF776	284309	broad.mit.edu	37	19	58265528	58265528	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:58265528G>A	ENST00000317178.5	+	3	1293	c.1030G>A	c.(1030-1032)Gga>Aga	p.G344R	ZNF776_ENST00000489376.1_3'UTR	NM_173632.3	NP_775903.3	Q68DI1	ZN776_HUMAN	zinc finger protein 776	344					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.G302R(1)		cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		AGTTCACACTGGAGAAAGACC	0.453																																					p.G344R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1030A	19						.						119.0	103.0	108.0					19																	58265528		2203	4300	6503	62957340	SO:0001583	missense	284309	exon3			AK095607	CCDS12962.2	19q13.43	2013-01-08			ENSG00000152443	ENSG00000152443		"""Zinc fingers, C2H2-type"", ""-"""	26765	protein-coding gene	gene with protein product							Standard	NM_173632		Approved	FLJ38288		Q68DI1	OTTHUMG00000156943	ENST00000317178.5:c.1030G>A	19.37:g.58265528G>A	ENSP00000321812:p.Gly344Arg		62957340	NM_173632	Q6ZS36|Q8N968	Missense_Mutation	SNP	ENST00000317178.5	37	CCDS12962.2	.	.	.	.	.	.	.	.	.	.	G	32	5.168087	0.94768	.	.	ENSG00000152443	ENST00000317178	T	0.26223	1.75	1.86	1.86	0.25419	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41143	0.1146	L	0.50919	1.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.26744	-1.0094	9	0.56958	D	0.05	.	10.6885	0.45856	0.0:0.0:1.0:0.0	.	344;344	Q68DI1;B4DSC6	ZN776_HUMAN;.	R	344	ENSP00000321812:G344R	ENSP00000321812:G344R	G	+	1	0	ZNF776	62957340	1.000000	0.71417	0.899000	0.35326	0.955000	0.61496	5.968000	0.70413	1.027000	0.39758	0.313000	0.20887	GGA		0.453	ZNF776-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346722.2	NM_173632	
ZNF256	10172	broad.mit.edu	37	19	58453352	58453352	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:58453352G>T	ENST00000282308.3	-	3	1020	c.824C>A	c.(823-825)tCc>tAc	p.S275Y	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	275					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S275Y(2)		endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		TTGCCTATAGGATTTCCCACA	0.393																																					p.S275Y	NSCLC(55;1313 1552 8040 11996)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C824A	19						.						123.0	117.0	119.0					19																	58453352		2203	4300	6503	63145164	SO:0001583	missense	10172	exon3			AF067165	CCDS12966.1	19q13	2013-01-08				ENSG00000152454		"""Zinc fingers, C2H2-type"", ""-"""	13049	protein-coding gene	gene with protein product		606956					Standard	NM_005773		Approved	BMZF-3	uc002qqu.3	Q9Y2P7		ENST00000282308.3:c.824C>A	19.37:g.58453352G>T	ENSP00000282308:p.Ser275Tyr		63145164	NM_005773	B2RA92|Q53Y85|Q9BV71	Missense_Mutation	SNP	ENST00000282308.3	37	CCDS12966.1	.	.	.	.	.	.	.	.	.	.	.	17.40	3.380625	0.61845	.	.	ENSG00000152454	ENST00000282308	T	0.08370	3.1	3.21	0.865	0.19074	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28034	0.0691	M	0.85197	2.74	0.09310	N	1	D	0.63880	0.993	P	0.62298	0.9	T	0.09885	-1.0654	9	0.59425	D	0.04	.	12.8717	0.57968	0.0:0.6549:0.3451:0.0	.	275	Q9Y2P7	ZN256_HUMAN	Y	275	ENSP00000282308:S275Y	ENSP00000282308:S275Y	S	-	2	0	ZNF256	63145164	0.000000	0.05858	0.004000	0.12327	0.928000	0.56348	-0.381000	0.07417	0.170000	0.19704	0.460000	0.39030	TCC		0.393	ZNF256-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466702.1		
ZNF329	79673	broad.mit.edu	37	19	58640349	58640349	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:58640349C>T	ENST00000598312.1	-	4	755	c.522G>A	c.(520-522)tcG>tcA	p.S174S	ZNF329_ENST00000358067.4_Silent_p.S174S	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	174					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.S174S(1)		NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		TACCTTCATACGATTTCTTGC	0.358																																					p.S174S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G522A	19						.						68.0	64.0	65.0					19																	58640349		2203	4300	6503	63332161	SO:0001819	synonymous_variant	79673	exon4			AK022648	CCDS12972.1	19q13.43	2013-01-08				ENSG00000181894		"""Zinc fingers, C2H2-type"""	14209	protein-coding gene	gene with protein product							Standard	XM_006723381		Approved	FLJ12586	uc002qrn.3	Q86UD4		ENST00000598312.1:c.522G>A	19.37:g.58640349C>T			63332161	NM_024620	B3KR32|Q9H9R7	Silent	SNP	ENST00000598312.1	37	CCDS12972.1																																																																																				0.358	ZNF329-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466724.1	NM_024620	
PLPPR3	79948	broad.mit.edu	37	19	814918	814918	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:814918G>A	ENST00000520876.3	-	5	645	c.567C>T	c.(565-567)tcC>tcT	p.S189S	LPPR3_ENST00000359894.2_Silent_p.S189S|MIR3187_ENST00000583431.1_RNA	NM_001270366.1	NP_001257295.1	Q6T4P5	LPPR3_HUMAN		189						integral component of membrane (GO:0016021)	phosphatidate phosphatase activity (GO:0008195)	p.S189S(1)									TGTCGTGGCCGGAGCAGATGT	0.622																																					p.S189S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C567T	19						.						139.0	113.0	122.0					19																	814918		2202	4299	6501	765918	SO:0001819	synonymous_variant	79948	exon5																														ENST00000520876.3:c.567C>T	19.37:g.814918G>A			765918	NM_024888	Q86XQ4|Q96EH1|Q9BQF9|Q9HAJ4	Silent	SNP	ENST00000520876.3	37	CCDS58636.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.115780	0.37339	.	.	ENSG00000129951	ENST00000521445	.	.	.	4.73	-5.73	0.02398	.	.	.	.	.	T	0.58192	0.2105	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66035	-0.6023	5	0.87932	D	0	-15.539	8.0487	0.30564	0.6394:0.0:0.1798:0.1808	.	.	.	.	W	139	.	ENSP00000428769:R139W	R	-	1	2	AC006273.1	765918	0.000000	0.05858	0.978000	0.43139	0.963000	0.63663	-5.296000	0.00134	-0.739000	0.04809	-0.274000	0.10170	CGG		0.622	LPPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379096.3		
SH2D3A	10045	broad.mit.edu	37	19	6755238	6755238	+	Silent	SNP	G	G	A	rs571714174		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:6755238G>A	ENST00000245908.6	-	5	854	c.585C>T	c.(583-585)gcC>gcT	p.A195A	SH2D3A_ENST00000599563.1_5'UTR|SH2D3A_ENST00000437152.3_Silent_p.A73A	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	195					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)	p.A195A(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						TGAGACTGTCGGCAACAGTTC	0.622																																					p.A195A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C585T	19						.						76.0	84.0	81.0					19																	6755238		2203	4300	6503	6706238	SO:0001819	synonymous_variant	10045	exon5			AF124249	CCDS12173.1	19p13.3	2013-02-14	2002-01-14			ENSG00000125731		"""SH2 domain containing"""	16885	protein-coding gene	gene with protein product		604721	"""SH2 domain-containing 3A"""			10187783	Standard	NM_005490		Approved	NSP1	uc002mft.3	Q9BRG2		ENST00000245908.6:c.585C>T	19.37:g.6755238G>A			6706238	NM_005490	A8K9R6|B4DRS7|Q9Y2X4	Silent	SNP	ENST00000245908.6	37	CCDS12173.1																																																																																				0.622	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458016.1	NM_005490	
CLEC4M	10332	broad.mit.edu	37	19	7830087	7830087	+	Silent	SNP	C	C	T	rs539558959	byFrequency	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:7830087C>T	ENST00000327325.5	+	3	265	c.147C>T	c.(145-147)ggC>ggT	p.G49G	CLEC4M_ENST00000359059.5_Intron|CLEC4M_ENST00000248228.4_Silent_p.G49G|CLEC4M_ENST00000596363.1_Silent_p.G21G|CLEC4M_ENST00000357361.2_Silent_p.G49G|CLEC4M_ENST00000394122.2_Silent_p.G41G|CLEC4M_ENST00000597522.1_Silent_p.G49G|CLEC4M_ENST00000595496.1_Intron|CLEC4M_ENST00000596707.1_Intron|CLEC4M_ENST00000334806.5_Silent_p.G21G	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	49					antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|ICAM-3 receptor activity (GO:0030369)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|receptor activity (GO:0004872)|virion binding (GO:0046790)	p.G49G(2)|p.A50P(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						TTGGCCATGGCGCCCTGGTGC	0.637													c|||	2	0.000399361	0.0008	0.0	5008	,	,		15697	0.0		0.0	False		,,,				2504	0.001				p.G21G												.	.	3	Substitution - coding silent(2)|Substitution - Missense(1)	lung(2)|large_intestine(1)	c.C63T	19						.						180.0	149.0	159.0					19																	7830087		2203	4300	6503	7736087	SO:0001819	synonymous_variant	10332	exon2			AB015629	CCDS12187.1, CCDS59346.1, CCDS59347.1, CCDS59348.1	19p13	2008-02-05	2005-02-04	2005-02-11		ENSG00000104938		"""C-type lectin domain containing"", ""CD molecules"""	13523	protein-coding gene	gene with protein product		605872	"""CD299 antigen"""	CD209L, CD299		10072769	Standard	NM_001144904		Approved	HP10347, DC-SIGNR, LSIGN, DCSIGNR, DC-SIGN2	uc010dvt.3	Q9H2X3		ENST00000327325.5:c.147C>T	19.37:g.7830087C>T			7736087	NM_001144904	A6NKI4|A8K8B3|Q69F40|Q969M4|Q96QP3|Q96QP4|Q96QP5|Q96QP6|Q9BXS3|Q9H2Q9|Q9H8F0|Q9Y2A8	Silent	SNP	ENST00000327325.5	37	CCDS12187.1																																																																																				0.637	CLEC4M-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461161.1	NM_014257	
MAP2K7	5609	broad.mit.edu	37	19	7977229	7977229	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:7977229G>A	ENST00000397979.3	+	11	1227	c.1173G>A	c.(1171-1173)gcG>gcA	p.A391A	CTD-3193O13.13_ENST00000595655.1_RNA|MAP2K7_ENST00000397981.3_Silent_p.A398A|MAP2K7_ENST00000397983.3_Silent_p.A407A|MAP2K7_ENST00000545011.1_Silent_p.A433A	NM_145185.2	NP_660186.1	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	391	DVD domain.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of neuron apoptotic process (GO:0043525)|response to heat (GO:0009408)|response to osmotic stress (GO:0006970)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|signal transduction (GO:0007165)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.A391A(1)		breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						TGGACGTGGCGTCCTGGTTCA	0.642																																					p.A391A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1173A	19						.						56.0	68.0	64.0					19																	7977229		2161	4249	6410	7883229	SO:0001819	synonymous_variant	5609	exon11			AF006689	CCDS42491.1, CCDS74277.1, CCDS74278.1	19p13.3-p13.2	2011-06-09			ENSG00000076984	ENSG00000076984	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6847	protein-coding gene	gene with protein product		603014		PRKMK7		9312068	Standard	XM_005272489		Approved	MKK7, Jnkk2	uc002mit.3	O14733	OTTHUMG00000137368	ENST00000397979.3:c.1173G>A	19.37:g.7977229G>A			7883229	NM_145185	B2R9S5|D6W659|O14648|O14816|O60452|O60453|Q1PG43|Q8IY10	Silent	SNP	ENST00000397979.3	37	CCDS42491.1																																																																																				0.642	MAP2K7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000267980.1		
MUC16	94025	broad.mit.edu	37	19	9076992	9076992	+	Missense_Mutation	SNP	G	G	A	rs200594255		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:9076992G>A	ENST00000397910.4	-	3	10657	c.10454C>T	c.(10453-10455)gCg>gTg	p.A3485V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3486	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.A3485V(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GACAGATGACGCAGAGCTTGT	0.507													G|||	1	0.000199681	0.0008	0.0	5008	,	,		24144	0.0		0.0	False		,,,				2504	0.0				p.A3485V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C10454T	19						.																																			8937992	SO:0001583	missense	94025	exon3			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.10454C>T	19.37:g.9076992G>A	ENSP00000381008:p.Ala3485Val		8937992	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	5.765	0.325525	0.10900	.	.	ENSG00000181143	ENST00000397910	T	0.02709	4.19	2.13	-1.51	0.08664	.	.	.	.	.	T	0.01421	0.0046	N	0.08118	0	.	.	.	P	0.45126	0.851	B	0.36808	0.233	T	0.47749	-0.9093	8	0.87932	D	0	.	5.1759	0.15135	0.4905:0.0:0.5095:0.0	.	3485	B5ME49	.	V	3485	ENSP00000381008:A3485V	ENSP00000381008:A3485V	A	-	2	0	MUC16	8937992	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.105000	0.10907	-0.277000	0.09193	0.313000	0.20887	GCG		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
OR7G1	125962	broad.mit.edu	37	19	9225953	9225953	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:9225953C>T	ENST00000541538.1	-	1	486	c.487G>A	c.(487-489)Gta>Ata	p.V163I	OR7G1_ENST00000293614.1_Missense_Mutation_p.V163I	NM_001005192.2	NP_001005192.2	Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	163						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V163I(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						AGCTGCAATACCATCAGACTC	0.468																																					p.V163I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G487A	19						.						117.0	108.0	111.0					19																	9225953		2203	4300	6503	9086953	SO:0001583	missense	125962	exon1				CCDS32898.1, CCDS32898.2	19p13.2	2013-09-24			ENSG00000161807	ENSG00000161807		"""GPCR / Class A : Olfactory receptors"""	8465	protein-coding gene	gene with protein product				OR7G1P			Standard	NM_001005192		Approved	OR19-15	uc021uoi.1	Q8NGA0	OTTHUMG00000168067	ENST00000541538.1:c.487G>A	19.37:g.9225953C>T	ENSP00000444134:p.Val163Ile		9086953	NM_001005192	Q6IFJ5|Q96RA1	Missense_Mutation	SNP	ENST00000541538.1	37	CCDS32898.2	.	.	.	.	.	.	.	.	.	.	c	9.963	1.223268	0.22457	.	.	ENSG00000161807	ENST00000293614;ENST00000541538	T;T	0.00099	8.73;8.73	3.78	-0.959	0.10343	GPCR, rhodopsin-like superfamily (1);	0.580895	0.13164	N	0.408833	T	0.00109	0.0003	L	0.28740	0.885	0.09310	N	1	B	0.20459	0.045	B	0.33690	0.168	T	0.17806	-1.0357	10	0.54805	T	0.06	.	4.0369	0.09733	0.1639:0.4796:0.0:0.3565	.	163	Q8NGA0	OR7G1_HUMAN	I	163	ENSP00000293614:V163I;ENSP00000444134:V163I	ENSP00000293614:V163I	V	-	1	0	OR7G1	9086953	0.000000	0.05858	0.003000	0.11579	0.012000	0.07955	-0.768000	0.04715	0.051000	0.15978	-0.304000	0.09214	GTA		0.468	OR7G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397912.1		
PDE4A	5141	broad.mit.edu	37	19	10543147	10543147	+	Intron	DEL	C	C	-			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:10543147delC	ENST00000352831.6	+	1	430				PDE4A_ENST00000380702.2_Intron|PDE4A_ENST00000293683.5_Intron|PDE4A_ENST00000592685.1_Intron|PDE4A_ENST00000440014.2_Frame_Shift_Del_p.P14fs	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific						cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)	p.P14fs*13(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	ccggccccggcccccTGCCCT	0.771																																					p.P13fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.37delC	19						.						4.0	5.0	5.0					19																	10543147		657	1532	2189	10404147	SO:0001627	intron_variant	5141	exon1				CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"""Phosphodiesterases"""	8780	protein-coding gene	gene with protein product	"""phosphodiesterase E2 dunce homolog (Drosophila)"""	600126	"""phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"""	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.320+11387C>-	19.37:g.10543147delC			10404147	NM_001111309	O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Frame_Shift_Del	DEL	ENST00000352831.6	37	CCDS45961.1																																																																																				0.771	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451244.1		
KMT2B	9757	broad.mit.edu	37	19	36223002	36223002	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:36223002delG	ENST00000222270.7	+	27	5631	c.5631delG	c.(5629-5631)ttgfs	p.L1877fs	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Frame_Shift_Del_p.L1877fs	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1877					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.G1881fs*16(1)									GGAGGCCCTTGGGGGGTGTCT	0.672																																					p.L1877fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.5631delG	19						.						11.0	12.0	12.0					19																	36223002		1860	4086	5946	40914842	SO:0001589	frameshift_variant	9757	exon27			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.5631delG	19.37:g.36223002delG	ENSP00000222270:p.Leu1877fs		40914842	NM_014727	O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Frame_Shift_Del	DEL	ENST00000222270.7	37	CCDS46055.1																																																																																				0.672	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727	
ZNF324	25799	broad.mit.edu	37	19	58982688	58982688	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr19:58982688C>T	ENST00000536459.2	+	4	1538	c.829C>T	c.(829-831)Cgc>Tgc	p.R277C	ZNF446_ENST00000596341.1_5'Flank|ZNF324_ENST00000535298.1_Missense_Mutation_p.R54C|ZNF324_ENST00000196482.3_Missense_Mutation_p.R277C			O75467	Z324A_HUMAN	zinc finger protein 324	277					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.R277C(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CAAGCACCTACGCACCCACAC	0.652																																					p.R277C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C829T	19						.						39.0	35.0	36.0					19																	58982688		2202	4298	6500	63674500	SO:0001583	missense	25799	exon4			AF060503	CCDS12981.1	19q13.43	2013-01-08				ENSG00000083812		"""Zinc fingers, C2H2-type"", ""-"""	14096	protein-coding gene	gene with protein product							Standard	NM_014347		Approved	ZF5128, ZNF324A	uc002qsw.2	O75467		ENST00000536459.2:c.829C>T	19.37:g.58982688C>T	ENSP00000444812:p.Arg277Cys		63674500	NM_014347	B3KRX1	Missense_Mutation	SNP	ENST00000536459.2	37	CCDS12981.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.343132	0.61073	.	.	ENSG00000083812	ENST00000378044;ENST00000196482;ENST00000536459;ENST00000539101;ENST00000535298	T;T;T	0.02472	4.28;4.28;4.28	3.72	3.72	0.42706	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42420	D	0.000706	T	0.17238	0.0414	M	0.88842	2.985	0.44337	D	0.997221	D	0.89917	1.0	D	0.73708	0.981	T	0.01185	-1.1425	10	0.87932	D	0	.	13.8028	0.63212	0.0:1.0:0.0:0.0	.	277	O75467	Z324A_HUMAN	C	277;277;277;267;54	ENSP00000196482:R277C;ENSP00000444812:R277C;ENSP00000439588:R54C	ENSP00000196482:R277C	R	+	1	0	ZNF324	63674500	0.000000	0.05858	1.000000	0.80357	0.977000	0.68977	-0.525000	0.06214	2.365000	0.80145	0.455000	0.32223	CGC		0.652	ZNF324-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467044.1	NM_014347	
IGFN1	91156	broad.mit.edu	37	1	201186418	201186419	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:201186418_201186419insC	ENST00000335211.4	+	17	9729_9730	c.9599_9600insC	c.(9598-9603)ctccccfs	p.LP3200fs	IGFN1_ENST00000295591.8_Frame_Shift_Ins_p.LP360fs	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	743						nucleus (GO:0005634)|Z disc (GO:0030018)		p.K3202fs*40(1)|p.K362fs*40(1)		autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCCCCAGCTCTCCCCAAGGCCC	0.678																																					p.L3200fs												.	.	2	Insertion - Frameshift(2)	large_intestine(2)	c.9599_9600insC	1						.																																			199453042	SO:0001589	frameshift_variant	91156	exon17			AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.9603dupC	1.37:g.201186422_201186422dupC	ENSP00000334714:p.Leu3200fs		199453041	NM_001164586	F8WAI1|Q9NT72	Frame_Shift_Ins	INS	ENST00000335211.4	37	CCDS53455.1																																																																																				0.678	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275	
OR2M4	26245	broad.mit.edu	37	1	248402757	248402758	+	Frame_Shift_Ins	INS	-	-	T	rs6666148	byFrequency	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	-	-	-	T	-	-	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:248402757_248402758insT	ENST00000306687.1	+	1	527_528	c.527_528insT	c.(526-531)cactttfs	p.F177fs		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	177					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F177fs*4(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GAAATTCATCACTTTTTCTGTG	0.426																																					p.H176fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.527_528insT	1						.																																			246469381	SO:0001589	frameshift_variant	26245	exon1			X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"""GPCR / Class A : Olfactory receptors"""	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	Exception_encountered	1.37:g.248402757_248402758insT	ENSP00000306688:p.Phe177fs		246469380	NM_017504	Q15611|Q8NG82	Frame_Shift_Ins	INS	ENST00000306687.1	37	CCDS31108.1																																																																																				0.426	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097352.1	NM_017504	
LRRC39	127495	broad.mit.edu	37	1	100618048	100618048	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:100618048A>G	ENST00000370137.1	-	9	1043	c.845T>C	c.(844-846)tTg>tCg	p.L282S	LRRC39_ENST00000342895.3_Missense_Mutation_p.L282S|LRRC39_ENST00000370138.1_Missense_Mutation_p.L282S	NM_001256386.1|NM_144620.3	NP_001243315.1|NP_653221.1	Q96DD0	LRC39_HUMAN	leucine rich repeat containing 39	282								p.L282S(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	13		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		TGATACTTTCAATTTCAGTGG	0.393																																					p.L282S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T845C	1						.						138.0	129.0	132.0					1																	100618048		2203	4300	6503	100390636	SO:0001583	missense	127495	exon9			AK096892	CCDS766.1, CCDS58014.1	1p21.3	2008-02-05			ENSG00000122477	ENSG00000122477			28228	protein-coding gene	gene with protein product						12975309	Standard	NM_001256385		Approved	MGC14816	uc001dsx.2	Q96DD0	OTTHUMG00000010839	ENST00000370137.1:c.845T>C	1.37:g.100618048A>G	ENSP00000359156:p.Leu282Ser		100390636	NM_144620	B3KUD2|D3DT56|Q5VVK7	Missense_Mutation	SNP	ENST00000370137.1	37	CCDS766.1	.	.	.	.	.	.	.	.	.	.	A	12.68	2.011271	0.35511	.	.	ENSG00000122477	ENST00000370137;ENST00000370138;ENST00000342895;ENST00000370136	T;T;T	0.40225	5.54;1.04;5.54	5.89	5.89	0.94794	.	0.000000	0.45867	D	0.000338	T	0.46619	0.1402	L	0.58101	1.795	0.50313	D	0.999864	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.44034	-0.9354	10	0.09084	T	0.74	.	16.3158	0.82923	1.0:0.0:0.0:0.0	.	282;282	Q96DD0-2;Q96DD0	.;LRC39_HUMAN	S	282	ENSP00000359156:L282S;ENSP00000359157:L282S;ENSP00000344470:L282S	ENSP00000344470:L282S	L	-	2	0	LRRC39	100390636	0.847000	0.29606	0.945000	0.38365	0.073000	0.16967	6.623000	0.74238	2.254000	0.74563	0.533000	0.62120	TTG		0.393	LRRC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029917.2	NM_144620	
C1orf127	148345	broad.mit.edu	37	1	11008866	11008866	+	Silent	SNP	C	C	T	rs373181248		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:11008866C>T	ENST00000377008.4	-	11	1271	c.825G>A	c.(823-825)ccG>ccA	p.P275P	C1orf127_ENST00000377004.4_Silent_p.P442P			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127	275	Pro-rich.							p.P275P(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		CTCTTCTCGCCGGTTTGGCTG	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		19137	0.0		0.0	False		,,,				2504	0.001				p.P442P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1326A	1						.	C		0,4406		0,0,2203	41.0	48.0	46.0		1326	-4.2	0.0	1		46	1,8593		0,1,4296	no	coding-synonymous	C1orf127	NM_001170754.1		0,1,6499	TT,TC,CC		0.0116,0.0,0.0077		442/824	11008866	1,12999	2203	4297	6500	10931453	SO:0001819	synonymous_variant	148345	exon12			AK094437	CCDS53267.1	1p36.22	2008-02-05			ENSG00000175262	ENSG00000175262			26730	protein-coding gene	gene with protein product						14702039	Standard	NM_001170754		Approved	FLJ37118	uc010oao.2	Q8N9H9	OTTHUMG00000002032	ENST00000377008.4:c.825G>A	1.37:g.11008866C>T			10931453	NM_001170754	A0AVG8|A6NKM7|Q5VXJ2	Silent	SNP	ENST00000377008.4	37		.	.	.	.	.	.	.	.	.	.	C	7.411	0.634700	0.14322	0.0	1.16E-4	ENSG00000175262	ENST00000418570;ENST00000520253	.	.	.	4.89	-4.21	0.03812	.	.	.	.	.	T	0.18087	0.0434	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27905	-1.0060	4	.	.	.	-9.7783	2.159	0.03820	0.2832:0.4156:0.1705:0.1307	.	.	.	.	Q	277;394	.	.	R	-	2	0	C1orf127	10931453	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.243000	0.08915	-0.551000	0.06175	-1.362000	0.01212	CGG		0.577	C1orf127-202	KNOWN	basic	protein_coding	protein_coding		NM_173507	
S1PR1	1901	broad.mit.edu	37	1	101704745	101704745	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:101704745A>G	ENST00000305352.6	+	2	580	c.205A>G	c.(205-207)Acc>Gcc	p.T69A	S1PR1_ENST00000475821.1_3'UTR|RP4-575N6.4_ENST00000432195.1_RNA	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	69					actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|brain development (GO:0007420)|cardiac muscle tissue growth involved in heart morphogenesis (GO:0003245)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|chemotaxis (GO:0006935)|endothelial cell differentiation (GO:0045446)|G-protein coupled receptor signaling pathway (GO:0007186)|heart trabecula morphogenesis (GO:0061384)|lamellipodium assembly (GO:0030032)|negative regulation of stress fiber assembly (GO:0051497)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of cell adhesion (GO:0030155)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell migration (GO:0072678)|transmission of nerve impulse (GO:0019226)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|sphingolipid binding (GO:0046625)|sphingosine-1-phosphate receptor activity (GO:0038036)	p.T69A(1)		NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						TGTCTTGCTGACCATTTGGAA	0.463											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.T69A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A205G	1						.						136.0	135.0	135.0					1																	101704745		2203	4300	6503	101477333	SO:0001583	missense	1901	exon2			M31210	CCDS777.1	1p21	2012-08-08	2008-04-30	2008-04-30	ENSG00000170989	ENSG00000170989		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"", ""CD molecules"""	3165	protein-coding gene	gene with protein product		601974	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 1"""	EDG1		2160972, 9488656	Standard	NM_001400		Approved	edg-1, D1S3362, CD363	uc001dud.2	P21453	OTTHUMG00000010835	ENST00000305352.6:c.205A>G	1.37:g.101704745A>G	ENSP00000305416:p.Thr69Ala	1360	101477333	NM_001400	D3DT66|Q9BYY4|Q9NYN8	Missense_Mutation	SNP	ENST00000305352.6	37	CCDS777.1	.	.	.	.	.	.	.	.	.	.	A	8.011	0.757587	0.15846	.	.	ENSG00000170989	ENST00000305352;ENST00000424264	T	0.01133	5.29	5.74	5.74	0.90152	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.00210	0.0006	N	0.00525	-1.395	0.80722	D	1	B	0.15930	0.015	B	0.24541	0.054	T	0.44651	-0.9314	10	0.02654	T	1	.	16.0356	0.80625	1.0:0.0:0.0:0.0	.	69	P21453	S1PR1_HUMAN	A	69	ENSP00000305416:T69A	ENSP00000305416:T69A	T	+	1	0	S1PR1	101477333	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.339000	0.96797	2.187000	0.69744	0.528000	0.53228	ACC		0.463	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029908.1	NM_001400	
CHIA	27159	broad.mit.edu	37	1	111863008	111863008	+	Missense_Mutation	SNP	G	G	A	rs545102298		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:111863008G>A	ENST00000369740.1	+	12	1454	c.1351G>A	c.(1351-1353)Gtg>Atg	p.V451M	CHIA_ENST00000343320.6_Missense_Mutation_p.V451M|CHIA_ENST00000451398.2_Missense_Mutation_p.V290M|CHIA_ENST00000483391.1_Missense_Mutation_p.V290M|CHIA_ENST00000353665.6_Missense_Mutation_p.V290M|CHIA_ENST00000430615.1_Missense_Mutation_p.V343M|RP5-1125M8.2_ENST00000426321.1_RNA	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	451	Chitin-binding type-2. {ECO:0000255|PROSITE-ProRule:PRU00144}.				apoptotic process (GO:0006915)|cell wall chitin metabolic process (GO:0006037)|chitin catabolic process (GO:0006032)|chitin metabolic process (GO:0006030)|digestion (GO:0007586)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|positive regulation of chemokine secretion (GO:0090197)|production of molecular mediator involved in inflammatory response (GO:0002532)|response to fungus (GO:0009620)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|chitinase activity (GO:0004568)|kinase binding (GO:0019900)|lysozyme activity (GO:0003796)	p.V343M(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		CTGGCACTGCGTGAATGGAGT	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		20869	0.0		0.001	False		,,,				2504	0.0				p.V451M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1351A	1						.						68.0	63.0	65.0					1																	111863008		2203	4300	6503	111664531	SO:0001583	missense	27159	exon12			AF290004	CCDS832.1, CCDS41368.1, CCDS58017.1	1p13.2	2008-05-14			ENSG00000134216	ENSG00000134216			17432	protein-coding gene	gene with protein product		606080				11085997	Standard	NM_021797		Approved	AMCase, TSA1902, CHIT2	uc001eas.4	Q9BZP6	OTTHUMG00000011165	ENST00000369740.1:c.1351G>A	1.37:g.111863008G>A	ENSP00000358755:p.Val451Met		111664531	NM_201653	Q32W79|Q32W80|Q3B866|Q5U5Z5|Q5VUV4|Q86UD8|Q9ULY3|Q9ULY4	Missense_Mutation	SNP	ENST00000369740.1	37	CCDS41368.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.272872	0.40194	.	.	ENSG00000134216	ENST00000422815;ENST00000483391;ENST00000369740;ENST00000343320;ENST00000451398;ENST00000353665;ENST00000430615	T;T;T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43;1.43;1.43	4.77	-9.53	0.00575	Chitin binding domain (5);	3.410390	0.01648	U	0.024421	T	0.17280	0.0415	M	0.81802	2.56	0.09310	N	1	P	0.51351	0.944	B	0.44163	0.443	T	0.30794	-0.9966	10	0.33940	T	0.23	5.3881	11.0762	0.48032	0.0:0.2336:0.4751:0.2912	.	451	Q9BZP6	CHIA_HUMAN	M	395;290;451;451;290;290;343	ENSP00000387671:V395M;ENSP00000436946:V290M;ENSP00000358755:V451M;ENSP00000341828:V451M;ENSP00000390476:V290M;ENSP00000338970:V290M;ENSP00000391132:V343M	ENSP00000341828:V451M	V	+	1	0	CHIA	111664531	0.000000	0.05858	0.000000	0.03702	0.923000	0.55619	-2.264000	0.01173	-2.450000	0.00543	-0.782000	0.03352	GTG		0.557	CHIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030710.1		
FAM212B	55924	broad.mit.edu	37	1	112269935	112269935	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:112269935C>A	ENST00000357260.5	-	2	730	c.549G>T	c.(547-549)gaG>gaT	p.E183D	FAM212B_ENST00000534365.1_Intron|FAM212B_ENST00000444059.2_Missense_Mutation_p.E168D	NM_019099.4	NP_061972.1	Q9NTI7	F212B_HUMAN	family with sequence similarity 212, member B	183								p.E183D(1)		cervix(1)|endometrium(1)	2						CCCCCCCAGTCTCACCCTTCT	0.567																																					p.E183D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G549T	1						.						68.0	66.0	67.0					1																	112269935		2203	4300	6503	112071458	SO:0001583	missense	55924	exon2			AK055667	CCDS841.1, CCDS44195.1	1p13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000197852	ENSG00000197852			28045	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 183"""	C1orf183			Standard	NM_019099		Approved	FLJ31105	uc001ebo.2	Q9NTI7	OTTHUMG00000011953	ENST00000357260.5:c.549G>T	1.37:g.112269935C>A	ENSP00000349805:p.Glu183Asp		112071458	NM_019099	B3KP38|B4DF94|Q9NTI6	Missense_Mutation	SNP	ENST00000357260.5	37	CCDS841.1	.	.	.	.	.	.	.	.	.	.	C	10.72	1.430940	0.25726	.	.	ENSG00000197852	ENST00000357260;ENST00000444059	.	.	.	5.3	3.0	0.34707	.	0.052579	0.64402	D	0.000001	T	0.07143	0.0181	N	0.19112	0.55	0.09310	N	0.999998	B;B	0.33044	0.395;0.395	B;B	0.31686	0.134;0.134	T	0.23048	-1.0199	9	0.18276	T	0.48	-27.8925	6.7719	0.23598	0.1592:0.6793:0.0:0.1615	.	168;183	Q9NTI7-2;Q9NTI7	.;CA183_HUMAN	D	183;168	.	ENSP00000349805:E183D	E	-	3	2	C1orf183	112071458	0.002000	0.14202	0.628000	0.29241	0.783000	0.44284	-0.200000	0.09478	1.176000	0.42840	0.484000	0.47621	GAG		0.567	FAM212B-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033060.2	NM_019099	
TRIM33	51592	broad.mit.edu	37	1	114976239	114976239	+	Splice_Site	SNP	C	C	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:114976239C>A	ENST00000358465.2	-	5	1123	c.1040G>T	c.(1039-1041)aGg>aTg	p.R347M	TRIM33_ENST00000369543.2_Splice_Site_p.R347M|TRIM33_ENST00000450349.2_De_novo_Start_InFrame	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	347	Necessary for oligomerization.				gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R347M(1)		breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAAACTTACCTATTCTGCAC	0.328			T	RET	papillary thyroid																																p.R347M			Dom	yes		1	1p13	51592	""" tripartite motif-containing 33 (PTC7,TIF1G)"""		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1040T	1						.						58.0	61.0	60.0					1																	114976239		2203	4299	6502	114777762	SO:0001630	splice_region_variant	51592	exon5			AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"", ""RING-type (C3HC4) zinc fingers"""	16290	protein-coding gene	gene with protein product	"""transcriptional intermediary factor 1 gamma"", ""ret-fused gene 7"""	605769	"""tripartite motif-containing 33"""			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.1040+1G>T	1.37:g.114976239C>A			114777762	NM_015906	O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Missense_Mutation	SNP	ENST00000358465.2	37	CCDS872.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.8|23.8	4.462272|4.462272	0.84425|0.84425	.|.	.|.	ENSG00000197323|ENSG00000197323	ENST00000448034|ENST00000358465;ENST00000369543	.|T;T	.|0.75367	.|-0.93;-0.85	5.13|5.13	5.13|5.13	0.70059|0.70059	.|B-box, C-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.78898	.|0.4356	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	.|D;P	.|0.76494	.|0.999;0.773	.|D;P	.|0.79784	.|0.993;0.54	.|T	.|0.77191	.|-0.2678	.|9	.|.	.|.	.|.	-3.9313|-3.9313	18.5692|18.5692	0.91129|0.91129	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|347;347	.|Q9UPN9-2;Q9UPN9	.|.;TRI33_HUMAN	X|M	84|347	.|ENSP00000351250:R347M;ENSP00000358556:R347M	.|.	G|R	-|-	1|2	0|0	TRIM33|TRIM33	114777762|114777762	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.806000|0.806000	0.45545|0.45545	7.739000|7.739000	0.84976|0.84976	2.374000|2.374000	0.81015|0.81015	0.460000|0.460000	0.39030|0.39030	GGA|AGG		0.328	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906	Missense_Mutation
CSDE1	7812	broad.mit.edu	37	1	115282416	115282416	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:115282416T>G	ENST00000358528.4	-	3	522	c.96A>C	c.(94-96)aaA>aaC	p.K32N	CSDE1_ENST00000339438.6_Missense_Mutation_p.K32N|CSDE1_ENST00000369530.1_Missense_Mutation_p.K78N|CSDE1_ENST00000261443.5_Missense_Mutation_p.K32N|CSDE1_ENST00000438362.2_Missense_Mutation_p.K78N|CSDE1_ENST00000534699.1_Missense_Mutation_p.K32N|CSDE1_ENST00000530886.1_Intron	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	32	CSD 1.				male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.K32N(1)		NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGTTAACAGTTTTTCAATAA	0.408																																					p.K78N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A234C	1						.						299.0	306.0	304.0					1																	115282416		2203	4300	6503	115083939	SO:0001583	missense	7812	exon4				CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"""upstream of NRAS"""	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.96A>C	1.37:g.115282416T>G	ENSP00000351329:p.Lys32Asn		115083939	NM_001130523	A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Missense_Mutation	SNP	ENST00000358528.4	37	CCDS30812.1	.	.	.	.	.	.	.	.	.	.	T	15.77	2.930942	0.52866	.	.	ENSG00000009307	ENST00000339438;ENST00000438362;ENST00000358528;ENST00000261443;ENST00000369530;ENST00000534699;ENST00000534389;ENST00000525878	.	.	.	5.81	4.68	0.58851	Cold shock protein (1);Nucleic acid-binding, OB-fold-like (1);Cold-shock protein, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.62877	0.2464	M	0.61703	1.905	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.989	D;D;D	0.87578	0.998;0.995;0.978	T	0.68085	-0.5502	9	0.72032	D	0.01	-17.6968	10.3163	0.43738	0.0:0.1366:0.0:0.8634	.	78;32;78	E9PGZ0;O75534;G5E9Q2	.;CSDE1_HUMAN;.	N	32;78;32;32;78;32;32;32	.	ENSP00000261443:K32N	K	-	3	2	CSDE1	115083939	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.837000	0.48191	1.025000	0.39708	0.377000	0.23210	AAA		0.408	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158	
FBXO44	93611	broad.mit.edu	37	1	11716037	11716037	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:11716037C>T	ENST00000251547.5	+	2	227	c.145C>T	c.(145-147)Cgc>Tgc	p.R49C	FBXO44_ENST00000251546.4_Missense_Mutation_p.R49C|FBXO44_ENST00000376760.1_Missense_Mutation_p.R49C|FBXO44_ENST00000376762.4_Missense_Mutation_p.R49C|FBXO44_ENST00000376770.1_Missense_Mutation_p.R49C|FBXO44_ENST00000376768.1_Missense_Mutation_p.R49C|FBXO2_ENST00000475961.1_5'Flank|FBXO2_ENST00000354287.4_5'Flank	NM_033182.5	NP_149438.2	Q9H4M3	FBX44_HUMAN	F-box protein 44	49	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.					SCF ubiquitin ligase complex (GO:0019005)		p.R49C(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CCTCTGGAAACGCAAGTGCCT	0.632																																					p.R49C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C145T	1						.						79.0	83.0	81.0					1																	11716037		2203	4300	6503	11638624	SO:0001583	missense	93611	exon2			AY040878	CCDS131.1, CCDS132.1	1p36.21	2008-03-26			ENSG00000132879	ENSG00000132879		"""F-boxes /  ""other"""""	24847	protein-coding gene	gene with protein product		609111				12383498	Standard	XM_005263535		Approved	FBX30, FBG3, MGC14140, Fbxo6a, Fbx44	uc001asm.3	Q9H4M3	OTTHUMG00000002071	ENST00000251547.5:c.145C>T	1.37:g.11716037C>T	ENSP00000251547:p.Arg49Cys		11638624	NM_033182	B3KNZ2|B7Z743|Q5TGX2|Q5TGX4|Q5TGX5|Q68DJ9|Q8WWY2	Missense_Mutation	SNP	ENST00000251547.5	37	CCDS132.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.053436	0.75960	.	.	ENSG00000132879	ENST00000251546;ENST00000425796;ENST00000376770;ENST00000376768;ENST00000251547;ENST00000376762;ENST00000376760	T;T;T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64;0.64;0.64	5.45	5.45	0.79879	F-box domain, cyclin-like (2);F-box domain, Skp2-like (1);	0.254514	0.41396	D	0.000890	T	0.63838	0.2545	L	0.58354	1.805	0.45791	D	0.998679	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76071	0.987;0.984;0.978	T	0.64795	-0.6323	10	0.59425	D	0.04	-6.9823	13.2489	0.60039	0.1587:0.8412:0.0:0.0	.	49;49;49	B7Z1P2;Q9H4M3;Q9H4M3-2	.;FBX44_HUMAN;.	C	49	ENSP00000251546:R49C;ENSP00000389820:R49C;ENSP00000365961:R49C;ENSP00000365959:R49C;ENSP00000251547:R49C;ENSP00000365953:R49C;ENSP00000365951:R49C	ENSP00000251546:R49C	R	+	1	0	FBXO44	11638624	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	2.438000	0.44837	2.555000	0.86185	0.407000	0.27541	CGC		0.632	FBXO44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005761.1	NM_183412	
TSPAN2	10100	broad.mit.edu	37	1	115604775	115604775	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:115604775G>A	ENST00000369516.2	-	3	282	c.251C>T	c.(250-252)tCg>tTg	p.S84L	TSPAN2_ENST00000369515.2_Missense_Mutation_p.S84L|TSPAN2_ENST00000369514.2_Missense_Mutation_p.S84L	NM_005725.4	NP_005716.2	O60636	TSN2_HUMAN	tetraspanin 2	84					astrocyte development (GO:0014002)|axon development (GO:0061564)|brain development (GO:0007420)|inflammatory response (GO:0006954)|microglia development (GO:0014005)|myelination (GO:0042552)|oligodendrocyte differentiation (GO:0048709)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)		p.S84L(1)		central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		CACACATTGCGACTCCCGCAT	0.637																																					p.S84L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C251T	1						.						59.0	49.0	52.0					1																	115604775		2203	4296	6499	115406298	SO:0001583	missense	10100	exon3			AF054839	CCDS881.1	1p13.1	2013-02-14			ENSG00000134198	ENSG00000134198		"""Tetraspanins"""	20659	protein-coding gene	gene with protein product		613133				9714763, 11739647	Standard	NM_005725		Approved	TSPAN-2, TSN2, FLJ12082	uc001eft.3	O60636	OTTHUMG00000011878	ENST00000369516.2:c.251C>T	1.37:g.115604775G>A	ENSP00000358529:p.Ser84Leu		115406298	NM_005725	D6PTH4|Q5TET2|Q8WU05	Missense_Mutation	SNP	ENST00000369516.2	37	CCDS881.1	.	.	.	.	.	.	.	.	.	.	G	31	5.059757	0.93846	.	.	ENSG00000134198	ENST00000369516;ENST00000369515;ENST00000433172;ENST00000369514	D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6	5.56	5.56	0.83823	Tetraspanin, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.90642	0.7065	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91283	0.5053	10	0.72032	D	0.01	.	18.2921	0.90134	0.0:0.0:1.0:0.0	.	84	O60636	TSN2_HUMAN	L	84;84;78;84	ENSP00000358529:S84L;ENSP00000358528:S84L;ENSP00000415256:S78L;ENSP00000358527:S84L	ENSP00000358527:S84L	S	-	2	0	TSPAN2	115406298	1.000000	0.71417	0.973000	0.42090	0.864000	0.49448	8.758000	0.91663	2.619000	0.88677	0.462000	0.41574	TCG		0.637	TSPAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032828.1	NM_005725	
MAB21L3	126868	broad.mit.edu	37	1	116670867	116670867	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:116670867C>T	ENST00000369500.3	+	6	1027	c.762C>T	c.(760-762)ggC>ggT	p.G254G	MAB21L3_ENST00000464946.1_3'UTR	NM_152367.2	NP_689580.2	Q8N8X9	MB213_HUMAN	mab-21-like 3 (C. elegans)	254								p.G254G(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						AAGATGGGGGCTGCCGTAGGA	0.537																																					p.G254G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C762T	1						.						68.0	66.0	67.0					1																	116670867		2203	4300	6503	116472390	SO:0001819	synonymous_variant	126868	exon6			AK096035	CCDS886.1	1p13.1	2011-02-23	2011-02-23	2011-02-23	ENSG00000173212	ENSG00000173212			26787	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 161"""	C1orf161		14702039	Standard	NM_152367		Approved	FLJ38716	uc001egc.1	Q8N8X9	OTTHUMG00000012110	ENST00000369500.3:c.762C>T	1.37:g.116670867C>T			116472390	NM_152367	Q5TDL7	Silent	SNP	ENST00000369500.3	37	CCDS886.1																																																																																				0.537	MAB21L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033486.1	NM_152367	
CD2	914	broad.mit.edu	37	1	117303219	117303219	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:117303219G>A	ENST00000369478.3	+	3	686	c.578G>A	c.(577-579)aGc>aAc	p.S193N		NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	193	Ig-like C2-type.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|heterotypic cell-cell adhesion (GO:0034113)|leukocyte migration (GO:0050900)|membrane raft polarization (GO:0001766)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of myeloid dendritic cell activation (GO:0030887)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of T cell differentiation (GO:0045580)|single organismal cell-cell adhesion (GO:0016337)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)	p.S193N(1)		NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	AACAAAGTCAGCAAGGAATCC	0.537																																					p.S193N	NSCLC(14;263 555 26380 43512 51332)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G578A	1						.						93.0	84.0	87.0					1																	117303219		2203	4300	6503	117104742	SO:0001583	missense	914	exon3			BC033583	CCDS889.1	1p13	2013-01-11	2006-03-28		ENSG00000116824	ENSG00000116824		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1639	protein-coding gene	gene with protein product		186990	"""CD2 antigen (p50), sheep red blood cell receptor"""	SRBC		2437578	Standard	NM_001767		Approved		uc001egu.4	P06729	OTTHUMG00000022750	ENST00000369478.3:c.578G>A	1.37:g.117303219G>A	ENSP00000358490:p.Ser193Asn		117104742	NM_001767	Q96TE5	Missense_Mutation	SNP	ENST00000369478.3	37	CCDS889.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.924754	0.52653	.	.	ENSG00000116824	ENST00000369478	T	0.24538	1.85	5.13	3.26	0.37387	Immunoglobulin C2-set (1);Immunoglobulin-like fold (1);	0.195632	0.52532	N	0.000072	T	0.24353	0.0590	L	0.52573	1.65	0.09310	N	0.999993	D;D	0.89917	0.998;1.0	D;D	0.71870	0.969;0.975	T	0.03630	-1.1018	10	0.54805	T	0.06	-14.4291	7.5822	0.27972	0.1892:0.0:0.8108:0.0	.	193;193	B4DVN2;P06729	.;CD2_HUMAN	N	193	ENSP00000358490:S193N	ENSP00000358490:S193N	S	+	2	0	CD2	117104742	0.379000	0.25123	0.032000	0.17829	0.009000	0.06853	1.209000	0.32357	0.867000	0.35654	0.655000	0.94253	AGC		0.537	CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059039.2	NM_001767	
PTGFRN	5738	broad.mit.edu	37	1	117492010	117492010	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:117492010G>A	ENST00000393203.2	+	4	1176	c.1029G>A	c.(1027-1029)tcG>tcA	p.S343S		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	343	Ig-like C2-type 3.				lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.S343S(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TGCACAGCTCGCCTCATGTTG	0.572																																					p.S343S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1029A	1						.						119.0	97.0	104.0					1																	117492010		2203	4300	6503	117293533	SO:0001819	synonymous_variant	5738	exon4			AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9601	protein-coding gene	gene with protein product		601204	"""prostaglandin F2 receptor negative regulator"""			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.1029G>A	1.37:g.117492010G>A			117293533	NM_020440	Q5VVU9|Q8N2K6	Silent	SNP	ENST00000393203.2	37	CCDS890.1																																																																																				0.572	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033271.1	NM_020440	
TRIM45	80263	broad.mit.edu	37	1	117655985	117655985	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:117655985C>T	ENST00000256649.4	-	5	2116	c.1590G>A	c.(1588-1590)atG>atA	p.M530I	TRIM45_ENST00000369461.3_Missense_Mutation_p.M473I|TRIM45_ENST00000369464.3_Missense_Mutation_p.M512I	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	530					bone development (GO:0060348)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.M530I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		CCTTACCTGGCATGGTGCCTC	0.597																																					p.M512I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1536A	1						.						81.0	80.0	80.0					1																	117655985		2203	4300	6503	117457508	SO:0001583	missense	80263	exon5				CCDS893.1, CCDS44200.1	1p13.1	2011-04-20	2011-01-25		ENSG00000134253	ENSG00000134253		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19018	protein-coding gene	gene with protein product		609318	"""tripartite motif-containing 45"""			15351693	Standard	NM_025188		Approved	FLJ13181, RNF99	uc001egz.2	Q9H8W5	OTTHUMG00000012119	ENST00000256649.4:c.1590G>A	1.37:g.117655985C>T	ENSP00000256649:p.Met530Ile		117457508	NM_001145635	Q53GN0|Q5T2K4|Q5T2K5|Q8IYV6	Missense_Mutation	SNP	ENST00000256649.4	37	CCDS893.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.388882	0.82902	.	.	ENSG00000134253	ENST00000256649;ENST00000369464;ENST00000369461	T;D;T	0.83075	-1.49;-1.68;-1.23	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	D	0.87962	0.6310	M	0.78049	2.395	0.80722	D	1	D;D	0.61697	0.99;0.983	P;P	0.59171	0.853;0.718	D	0.89056	0.3459	10	0.62326	D	0.03	-39.4898	17.0637	0.86554	0.0:1.0:0.0:0.0	.	512;530	Q9H8W5-2;Q9H8W5	.;TRI45_HUMAN	I	530;512;473	ENSP00000256649:M530I;ENSP00000358476:M512I;ENSP00000358473:M473I	ENSP00000256649:M530I	M	-	3	0	TRIM45	117457508	1.000000	0.71417	1.000000	0.80357	0.517000	0.34286	7.075000	0.76798	2.504000	0.84457	0.563000	0.77884	ATG		0.597	TRIM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033503.1	NM_025188	
MFN2	9927	broad.mit.edu	37	1	12067213	12067213	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:12067213G>T	ENST00000235329.5	+	17	2298	c.1976G>T	c.(1975-1977)aGg>aTg	p.R659M	MFN2_ENST00000444836.1_Missense_Mutation_p.R659M	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	659					apoptotic process (GO:0006915)|autophagy (GO:0006914)|blastocyst formation (GO:0001825)|blood coagulation (GO:0007596)|camera-type eye morphogenesis (GO:0048593)|mitochondrial fusion (GO:0008053)|mitochondrial membrane organization (GO:0007006)|mitochondrion localization (GO:0051646)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of smooth muscle cell proliferation (GO:0048662)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to mitochondrion (GO:0006626)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intrinsic component of mitochondrial outer membrane (GO:0031306)|microtubule cytoskeleton (GO:0015630)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ubiquitin protein ligase binding (GO:0031625)	p.R357M(1)|p.R659M(1)		endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		GCCAAGGAGAGGGCCTTCAAG	0.592																																					p.R659M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1976T	1						.						86.0	77.0	80.0					1																	12067213		2203	4300	6503	11989800	SO:0001583	missense	9927	exon16			AF036536	CCDS30587.1	1p36.22	2014-09-17			ENSG00000116688	ENSG00000116688			16877	protein-coding gene	gene with protein product		608507				12499352, 11181170	Standard	NM_014874		Approved	CPRP1, KIAA0214, MARF, CMT2A2	uc009vni.3	O95140	OTTHUMG00000002392	ENST00000235329.5:c.1976G>T	1.37:g.12067213G>T	ENSP00000235329:p.Arg659Met		11989800	NM_001127660	A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Missense_Mutation	SNP	ENST00000235329.5	37	CCDS30587.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.435085	0.83885	.	.	ENSG00000116688	ENST00000444836;ENST00000235329;ENST00000376337	D;D	0.97455	-4.39;-4.39	4.57	4.57	0.56435	Fzo/mitofusin HR2 domain (1);	0.000000	0.85682	D	0.000000	D	0.98513	0.9504	M	0.86343	2.81	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.99636	1.0987	10	0.87932	D	0	-23.6598	16.5619	0.84568	0.0:0.0:1.0:0.0	.	659	O95140	MFN2_HUMAN	M	659;659;357	ENSP00000416338:R659M;ENSP00000235329:R659M	ENSP00000235329:R659M	R	+	2	0	MFN2	11989800	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	9.263000	0.95617	2.370000	0.80446	0.561000	0.74099	AGG		0.592	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006859.2	NM_014874	
TBX15	6913	broad.mit.edu	37	1	119466065	119466065	+	Silent	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:119466065A>G	ENST00000369429.3	-	5	864	c.855T>C	c.(853-855)aaT>aaC	p.N285N	TBX15_ENST00000207157.3_Silent_p.N179N			Q96SF7	TBX15_HUMAN	T-box 15	285					embryonic cranial skeleton morphogenesis (GO:0048701)	Tle3-Aes complex (GO:0070722)	RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.N179N(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		TTACCTGCTGATTCTGATAGG	0.458																																					p.N179N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T537C	1						.						99.0	92.0	94.0					1																	119466065		2203	4300	6503	119267588	SO:0001819	synonymous_variant	6913	exon5			AK127536	CCDS30816.1	1p11.1	2008-02-05	2004-10-05		ENSG00000092607	ENSG00000092607		"""T-boxes"""	11594	protein-coding gene	gene with protein product		604127	"""T-box 14"""	TBX14		9693034	Standard	XM_005271162		Approved		uc001ehl.1	Q96SF7	OTTHUMG00000012263	ENST00000369429.3:c.855T>C	1.37:g.119466065A>G			119267588	NM_152380	Q08E76|Q5JT54|Q5T9S7	Silent	SNP	ENST00000369429.3	37																																																																																					0.458	TBX15-002	PUTATIVE	not_organism_supported|upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000034351.1	NM_152380	
PHGDH	26227	broad.mit.edu	37	1	120277960	120277960	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:120277960T>C	ENST00000369409.4	+	7	822	c.686T>C	c.(685-687)gTg>gCg	p.V229A	PHGDH_ENST00000369407.3_Missense_Mutation_p.V195A	NM_006623.3	NP_006614.2	O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	229					brain development (GO:0007420)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|G1 to G0 transition (GO:0070314)|gamma-aminobutyric acid metabolic process (GO:0009448)|glial cell development (GO:0021782)|glutamine metabolic process (GO:0006541)|glycine metabolic process (GO:0006544)|L-serine biosynthetic process (GO:0006564)|neural tube development (GO:0021915)|neuron projection development (GO:0031175)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|taurine metabolic process (GO:0019530)|threonine metabolic process (GO:0006566)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|phosphoglycerate dehydrogenase activity (GO:0004617)	p.V229A(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)		AAGAAGGGGGTGCGTGTGGTG	0.627																																					p.V229A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T686C	1						.						116.0	118.0	117.0					1																	120277960		2203	4300	6503	120079483	SO:0001583	missense	26227	exon7			BC011262	CCDS904.1	1p12	2008-02-05			ENSG00000092621	ENSG00000092621	1.1.1.95		8923	protein-coding gene	gene with protein product		606879					Standard	NM_006623		Approved	SERA, PGDH, PDG	uc001ehz.3	O43175	OTTHUMG00000012100	ENST00000369409.4:c.686T>C	1.37:g.120277960T>C	ENSP00000358417:p.Val229Ala		120079483	NM_006623	B2RD08|Q5SZU3|Q9BQ01	Missense_Mutation	SNP	ENST00000369409.4	37	CCDS904.1	.	.	.	.	.	.	.	.	.	.	.	32	5.137821	0.94517	.	.	ENSG00000092621	ENST00000369409;ENST00000537497;ENST00000535091;ENST00000369407	T;T	0.76186	-1.0;-1.0	5.23	5.23	0.72850	D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding (2);D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.60470	0.2271	N	0.02685	-0.53	0.80722	D	1	D;D;D;D;D	0.69078	0.997;0.997;0.997;0.981;0.997	D;D;D;P;D	0.77004	0.989;0.985;0.985;0.848;0.985	T	0.73049	-0.4105	10	0.40728	T	0.16	-11.8046	13.9369	0.64029	0.0:0.0:0.0:1.0	.	101;195;195;102;229	Q9UMY2;B3KSC3;Q5SZU1;F5H634;O43175	.;.;.;.;SERA_HUMAN	A	229;102;61;195	ENSP00000358417:V229A;ENSP00000358415:V195A	ENSP00000358415:V195A	V	+	2	0	PHGDH	120079483	1.000000	0.71417	0.954000	0.39281	0.976000	0.68499	5.876000	0.69667	1.991000	0.58162	0.533000	0.62120	GTG		0.627	PHGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033464.1	NM_006623	
AADACL4	343066	broad.mit.edu	37	1	12726318	12726318	+	Missense_Mutation	SNP	G	G	A	rs139261871		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:12726318G>A	ENST00000376221.1	+	4	796	c.796G>A	c.(796-798)Gcc>Acc	p.A266T		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	266						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)	p.A266T(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		CTGGCGTGACGCCATCTTGAA	0.502													G|||	1	0.000199681	0.0	0.0	5008	,	,		19682	0.0		0.001	False		,,,				2504	0.0				p.A266T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G796A	1						.	G	THR/ALA	0,4406		0,0,2203	137.0	134.0	135.0		796	2.4	0.0	1	dbSNP_134	135	1,8599	1.2+/-3.3	0,1,4299	no	missense	AADACL4	NM_001013630.1	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	266/408	12726318	1,13005	2203	4300	6503	12648905	SO:0001583	missense	343066	exon4				CCDS30590.1	1p36.21	2010-12-14			ENSG00000204518	ENSG00000204518			32038	protein-coding gene	gene with protein product							Standard	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	Q5VUY2	OTTHUMG00000001889	ENST00000376221.1:c.796G>A	1.37:g.12726318G>A	ENSP00000365395:p.Ala266Thr		12648905	NM_001013630		Missense_Mutation	SNP	ENST00000376221.1	37	CCDS30590.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	11.05	1.524004	0.27299	0.0	1.16E-4	ENSG00000204518	ENST00000376221	T	0.59083	0.29	4.38	2.44	0.29823	.	0.382752	0.24561	N	0.037470	T	0.38268	0.1034	L	0.31294	0.92	0.09310	N	1	B	0.32731	0.382	B	0.28139	0.086	T	0.16541	-1.0399	10	0.32370	T	0.25	-20.033	7.5085	0.27560	0.1645:0.1364:0.6991:0.0	.	266	Q5VUY2	ADCL4_HUMAN	T	266	ENSP00000365395:A266T	ENSP00000365395:A266T	A	+	1	0	AADACL4	12648905	0.000000	0.05858	0.006000	0.13384	0.002000	0.02628	-0.356000	0.07661	1.034000	0.39945	0.655000	0.94253	GCC		0.502	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005328.1	NM_001013630	
FAM72B	653820	broad.mit.edu	37	1	120854556	120854556	+	Silent	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:120854556A>G	ENST00000369390.3	+	4	1249	c.420A>G	c.(418-420)ttA>ttG	p.L140L	FAM72B_ENST00000471903.2_3'UTR|FAM72B_ENST00000355228.4_Silent_p.L100L	NM_001100910.1	NP_001094380.1	Q86X60	FA72B_HUMAN	family with sequence similarity 72, member B	140								p.L140L(1)		large_intestine(1)|lung(2)	3	all_neural(166;0.181)	all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068)		Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19)		AAGATGTGTTAAATATCTCAG	0.269																																					p.L140L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A420G	1						.						55.0	56.0	55.0					1																	120854556		1778	4039	5817	120656079	SO:0001819	synonymous_variant	653820	exon4			AL357493	CCDS72848.1	1p12	2014-05-06			ENSG00000188610	ENSG00000188610			24805	protein-coding gene	gene with protein product		614711					Standard	NM_001100910		Approved	RP11-439A17.6	uc009whp.3	Q86X60	OTTHUMG00000185025	ENST00000369390.3:c.420A>G	1.37:g.120854556A>G			120656079	NM_001100910	B2RPQ5|Q5QP15	Silent	SNP	ENST00000369390.3	37	CCDS41374.1																																																																																				0.269	FAM72B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098437.1		
GJA8	2703	broad.mit.edu	37	1	147381186	147381186	+	Missense_Mutation	SNP	G	G	T	rs145146702	byFrequency	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:147381186G>T	ENST00000369235.1	+	1	1104	c.1104G>T	c.(1102-1104)gaG>gaT	p.E368D	GJA8_ENST00000240986.4_Missense_Mutation_p.E368D			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	368					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)	p.E368D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CCGTGCCAGAGGGGGAGAAAG	0.612																																					p.E368D	Melanoma(76;1255 1795 8195 52096)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1104T	1						.						45.0	47.0	47.0					1																	147381186		2200	4298	6498	145847810	SO:0001583	missense	2703	exon2			U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"""Ion channels / Gap junction proteins (connexins)"""	4281	protein-coding gene	gene with protein product	"""connexin 50"""	600897	"""gap junction protein, alpha 8, 50kD (connexin 50)"", ""gap junction protein, alpha 8, 50kDa (connexin 50)"""	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.1104G>T	1.37:g.147381186G>T	ENSP00000358238:p.Glu368Asp		145847810	NM_005267	A7L5M5|Q5VVN9|Q9NP25	Missense_Mutation	SNP	ENST00000369235.1	37	CCDS30834.1	.	.	.	.	.	.	.	.	.	.	N	0.016	-1.527513	0.00959	.	.	ENSG00000121634	ENST00000240986;ENST00000369235	D;D	0.97906	-4.6;-4.6	5.09	-3.24	0.05094	.	1.849950	0.03452	N	0.210762	T	0.79919	0.4529	N	0.03115	-0.41	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	D	0.84033	0.0360	10	0.13470	T	0.59	.	3.5479	0.07835	0.2039:0.414:0.2737:0.1084	.	368	P48165	CXA8_HUMAN	D	368	ENSP00000240986:E368D;ENSP00000358238:E368D	ENSP00000240986:E368D	E	+	3	2	GJA8	145847810	0.009000	0.17119	0.005000	0.12908	0.033000	0.12548	-0.368000	0.07543	-0.883000	0.03982	-0.929000	0.02709	GAG		0.612	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267	
MCL1	4170	broad.mit.edu	37	1	150550852	150550852	+	Silent	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:150550852A>G	ENST00000369026.2	-	2	863	c.804T>C	c.(802-804)atT>atC	p.I268I	MCL1_ENST00000307940.3_Intron|MCL1_ENST00000464132.1_5'UTR	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	myeloid cell leukemia 1	268					apoptotic mitochondrial changes (GO:0008637)|cell fate determination (GO:0001709)|cellular homeostasis (GO:0019725)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|protein transmembrane transport (GO:0071806)|regulation of response to DNA damage stimulus (GO:2001020)|response to cytokine (GO:0034097)	Bcl-2 family protein complex (GO:0097136)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	BH3 domain binding (GO:0051434)|protein channel activity (GO:0015266)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.I268I(1)		endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CACCAAAAGAAATGAGAGTCA	0.438																																					p.I115I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T345C	1						.						126.0	125.0	125.0					1																	150550852		2203	4300	6503	148817476	SO:0001819	synonymous_variant	4170	exon3			BC017197	CCDS956.1, CCDS957.1, CCDS72909.1	1q21	2014-03-07	2014-03-07		ENSG00000143384	ENSG00000143384			6943	protein-coding gene	gene with protein product		159552	"""myeloid cell leukemia sequence 1 (BCL2-related)"""			7682708, 7835896	Standard	NM_021960		Approved	BCL2L3, Mcl-1	uc001euz.3	Q07820	OTTHUMG00000034867	ENST00000369026.2:c.804T>C	1.37:g.150550852A>G			148817476	NM_001197320	B2R6B2|D3DV03|D3DV04|Q9HD91|Q9NRQ3|Q9NRQ4|Q9UHR7|Q9UHR8|Q9UHR9|Q9UNJ1	Silent	SNP	ENST00000369026.2	37	CCDS957.1																																																																																				0.438	MCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084402.1	NM_021960	
CTSS	1520	broad.mit.edu	37	1	150737233	150737233	+	Missense_Mutation	SNP	G	G	A	rs146441878	byFrequency	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:150737233G>A	ENST00000368985.3	-	2	267	c.7C>T	c.(7-9)Cgg>Tgg	p.R3W	CTSS_ENST00000480760.1_5'Flank|CTSS_ENST00000448301.2_Missense_Mutation_p.R3W	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	3					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|basement membrane disassembly (GO:0034769)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of inflammatory response (GO:0050729)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)	p.R3W(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			CAAACCAGCCGTTTCATTCTG	0.433																																					p.R3W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7T	1						.	G	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	157.0	140.0	146.0		7,7	0.2	0.0	1	dbSNP_134	146	0,8600		0,0,4300	no	missense,missense	CTSS	NM_001199739.1,NM_004079.4	101,101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	3/282,3/332	150737233	1,13005	2203	4300	6503	149003857	SO:0001583	missense	1520	exon2			M90696	CCDS968.1, CCDS55634.1	1q21	2008-02-05			ENSG00000163131	ENSG00000163131	3.4.22.27	"""Cathepsins"""	2545	protein-coding gene	gene with protein product		116845				1373132	Standard	NM_001199739		Approved		uc001evn.3	P25774	OTTHUMG00000035010	ENST00000368985.3:c.7C>T	1.37:g.150737233G>A	ENSP00000357981:p.Arg3Trp		149003857	NM_004079	B4DWC9|D3DV05|Q5T5I0|Q6FHS5|Q9BUG3	Missense_Mutation	SNP	ENST00000368985.3	37	CCDS968.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.536886	0.45176	2.27E-4	0.0	ENSG00000163131	ENST00000448301;ENST00000368985	D;T	0.82344	-1.6;-1.19	5.03	0.221	0.15283	.	3.217790	0.00520	N	0.000189	T	0.44767	0.1309	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.38908	-0.9639	10	0.36615	T	0.2	.	3.9865	0.09517	0.5677:0.0:0.2701:0.1621	.	3;3	B4DWC9;P25774	.;CATS_HUMAN	W	3	ENSP00000408414:R3W;ENSP00000357981:R3W	ENSP00000357981:R3W	R	-	1	2	CTSS	149003857	0.000000	0.05858	0.002000	0.10522	0.015000	0.08874	0.091000	0.15046	0.133000	0.18654	-0.397000	0.06425	CGG		0.433	CTSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084737.1	NM_004079	
FLG	2312	broad.mit.edu	37	1	152284650	152284650	+	Silent	SNP	G	G	A	rs150580597		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:152284650G>A	ENST00000368799.1	-	3	2747	c.2712C>T	c.(2710-2712)gaC>gaT	p.D904D	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	904	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.D904D(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCTGGAGCCGTCTCTTGATT	0.562									Ichthyosis																												p.D904D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2712T	1						.	G		0,4406		0,0,2203	402.0	383.0	390.0		2712	-0.2	0.0	1	dbSNP_134	390	7,8593		0,7,4293	no	coding-synonymous	FLG	NM_002016.1		0,7,6496	AA,AG,GG		0.0814,0.0,0.0538		904/4062	152284650	7,12999	2203	4300	6503	150551274	SO:0001819	synonymous_variant	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2712C>T	1.37:g.152284650G>A			150551274	NM_002016	Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	CCDS30860.1																																																																																				0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
FLG2	388698	broad.mit.edu	37	1	152324130	152324130	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:152324130G>A	ENST00000388718.5	-	3	6204	c.6132C>T	c.(6130-6132)caC>caT	p.H2044H	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2044					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.H2044H(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGAATGTGTGTGTGAGACCC	0.542																																					p.H2044H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C6132T	1						.						493.0	451.0	465.0					1																	152324130		2203	4300	6503	150590754	SO:0001819	synonymous_variant	388698	exon3			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.6132C>T	1.37:g.152324130G>A			150590754	NM_001014342	Q9H4U1	Silent	SNP	ENST00000388718.5	37	CCDS30861.1																																																																																				0.542	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342	
S100A4	6275	broad.mit.edu	37	1	153516253	153516253	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:153516253C>T	ENST00000368716.4	-	3	435	c.288G>A	c.(286-288)aaG>aaA	p.K96K	S100A5_ENST00000368718.1_5'Flank|S100A4_ENST00000368715.1_Silent_p.K96K|S100A4_ENST00000354332.4_Silent_p.K96K|S100A5_ENST00000359215.1_5'Flank|S100A4_ENST00000368714.1_Silent_p.K96K|S100A4_ENST00000481009.1_5'UTR	NM_002961.2	NP_002952.1	P26447	S10A4_HUMAN	S100 calcium binding protein A4	96					epithelial to mesenchymal transition (GO:0001837)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)	p.K96K(1)		large_intestine(2)|lung(1)|prostate(1)	4	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Trifluoperazine(DB00831)	TCCTGGGCTGCTTATCTGGGA	0.532																																					p.K96K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G288A	1						.						150.0	150.0	150.0					1																	153516253		2203	4300	6503	151782877	SO:0001819	synonymous_variant	6275	exon3			BC016300	CCDS1042.1	1q12-q22	2013-01-10	2006-09-11		ENSG00000196154	ENSG00000196154		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10494	protein-coding gene	gene with protein product	"""fibroblast-specific protein-1"""	114210	"""S100 calcium-binding protein A4 (calcium protein, calvasculin, metastasin, murine placental homolog)"", ""S100 calcium binding protein A4 (calcium protein, calvasculin, metastasin, murine placental homolog)"""	MTS1, CAPL		3155863	Standard	NM_019554		Approved	P9KA, 18A2, PEL98, 42A, FSP1	uc001fbz.3	P26447	OTTHUMG00000013546	ENST00000368716.4:c.288G>A	1.37:g.153516253C>T			151782877	NM_002961	A8K7R8|D3DV46|Q6ICP8	Silent	SNP	ENST00000368716.4	37	CCDS1042.1																																																																																				0.532	S100A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037714.1	NM_002961	
NUP210L	91181	broad.mit.edu	37	1	154090263	154090263	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:154090263T>A	ENST00000368559.3	-	12	1629	c.1558A>T	c.(1558-1560)Agg>Tgg	p.R520W	NUP210L_ENST00000271854.3_Missense_Mutation_p.R520W	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	520					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)		p.R520W(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CTATTCCCCCTGACCTGACCT	0.448																																					p.R520W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1558T	1						.						135.0	127.0	130.0					1																	154090263		1914	4125	6039	152356887	SO:0001583	missense	91181	exon12			AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.1558A>T	1.37:g.154090263T>A	ENSP00000357547:p.Arg520Trp		152356887	NM_207308	E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	T	18.33	3.599433	0.66332	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.06142	3.34;3.34	4.55	3.33	0.38152	Invasin/intimin cell-adhesion (1);	0.335703	0.24978	N	0.034084	T	0.03651	0.0104	L	0.36672	1.1	0.28770	N	0.900418	D;P	0.57257	0.979;0.948	P;P	0.53006	0.715;0.604	T	0.29971	-0.9994	10	0.66056	D	0.02	-7.1767	4.7984	0.13284	0.0:0.1031:0.3202:0.5767	.	520;520	E7EP56;Q5VU65	.;P210L_HUMAN	W	520	ENSP00000357547:R520W;ENSP00000271854:R520W	ENSP00000271854:R520W	R	-	1	2	NUP210L	152356887	0.000000	0.05858	0.995000	0.50966	0.931000	0.56810	-0.473000	0.06615	1.701000	0.51217	0.455000	0.32223	AGG		0.448	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308	
SHC1	6464	broad.mit.edu	37	1	154942573	154942573	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:154942573G>A	ENST00000368445.5	-	1	644	c.430C>T	c.(430-432)Ccc>Tcc	p.P144S	SHC1_ENST00000448116.2_Missense_Mutation_p.P144S|SHC1_ENST00000606391.1_Intron|SHC1_ENST00000368449.4_Intron|SHC1_ENST00000368450.1_Missense_Mutation_p.P34S|SHC1_ENST00000368453.4_Missense_Mutation_p.P34S	NM_183001.4	NP_892113.4	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	144					actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|Ras protein signal transduction (GO:0007265)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of growth (GO:0040008)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|Shc-EGFR complex (GO:0070435)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phospholipid binding (GO:0005543)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.P144S(1)|p.P34S(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCCCGCGTGGGCTTATTGACA	0.637																																					p.P34S	NSCLC(4;32 234 1864 2492 3259 13747 17376)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C100T	1						.						46.0	58.0	54.0					1																	154942573		2202	4300	6502	153209197	SO:0001583	missense	6464	exon2			U73377	CCDS1076.1, CCDS30881.1, CCDS44233.1, CCDS44234.1	1q21	2013-02-14	2002-01-14		ENSG00000160691	ENSG00000160691		"""SH2 domain containing"""	10840	protein-coding gene	gene with protein product		600560	"""SHC (Src homology 2 domain-containing) transforming protein 1"""	SHC		1623525	Standard	NM_003029		Approved	p66	uc001ffw.3	P29353	OTTHUMG00000037295	ENST00000368445.5:c.430C>T	1.37:g.154942573G>A	ENSP00000357430:p.Pro144Ser		153209197	NM_001130041	B5BU19|D3DV78|O15290|Q5T180|Q5T183|Q5T184|Q5T185|Q5T186|Q8N4K5|Q96CL1	Missense_Mutation	SNP	ENST00000368445.5	37	CCDS30881.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.645546	0.87859	.	.	ENSG00000160691	ENST00000368445;ENST00000448116;ENST00000368453;ENST00000368450;ENST00000368443;ENST00000412170;ENST00000366442	T;T;T;T;T;T	0.15834	2.39;2.39;2.39;2.39;2.39;2.39	4.49	4.49	0.54785	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.16727	0.0402	M	0.78049	2.395	0.80722	D	1	B;B	0.29571	0.249;0.077	B;B	0.34242	0.178;0.044	T	0.03384	-1.1042	10	0.56958	D	0.05	.	15.9175	0.79531	0.0:0.0:1.0:0.0	.	144;144	P29353-6;P29353	.;SHC1_HUMAN	S	144;144;34;34;80;34;34	ENSP00000357430:P144S;ENSP00000401303:P144S;ENSP00000357438:P34S;ENSP00000357435:P34S;ENSP00000398441:P34S;ENSP00000396162:P34S	ENSP00000396162:P34S	P	-	1	0	SHC1	153209197	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.174000	0.94824	2.345000	0.79718	0.555000	0.69702	CCC		0.637	SHC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090781.2	NM_183001	
HCN3	57657	broad.mit.edu	37	1	155257022	155257022	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:155257022C>T	ENST00000368358.3	+	7	1544	c.1536C>T	c.(1534-1536)tgC>tgT	p.C512C	HCN3_ENST00000496230.1_Intron	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	512					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.C512C(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			ACACCTACTGCCGCCTTTACT	0.587																																					p.C512C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1536T	1						.						105.0	85.0	92.0					1																	155257022		2203	4300	6503	153523646	SO:0001819	synonymous_variant	57657	exon7			AB040968	CCDS1108.1	1q21.2	2011-07-05			ENSG00000143630	ENSG00000143630		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	19183	protein-coding gene	gene with protein product		609973				16382102	Standard	NM_020897		Approved	KIAA1535	uc001fjz.2	Q9P1Z3	OTTHUMG00000035872	ENST00000368358.3:c.1536C>T	1.37:g.155257022C>T			153523646	NM_020897	D3DV90|Q4VX12|Q8N6W6|Q9BWQ2	Silent	SNP	ENST00000368358.3	37	CCDS1108.1																																																																																				0.587	HCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087388.1	NM_020897	
PMF1	11243	broad.mit.edu	37	1	156203446	156203446	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:156203446G>A	ENST00000368273.4	+	3	311	c.301G>A	c.(301-303)Ggg>Agg	p.G101R	PMF1_ENST00000368279.3_Missense_Mutation_p.G99R|PMF1_ENST00000368277.3_Missense_Mutation_p.G99R|PMF1-BGLAP_ENST00000490491.1_Missense_Mutation_p.G99R|PMF1-BGLAP_ENST00000320139.5_Missense_Mutation_p.G99R|PMF1_ENST00000567140.1_Missense_Mutation_p.G99R|PMF1-BGLAP_ENST00000368276.4_Missense_Mutation_p.G99R|PMF1_ENST00000565805.1_Missense_Mutation_p.G99R	NM_001199654.1	NP_001186583.1			polyamine-modulated factor 1									p.G99R(1)		kidney(1)|large_intestine(2)|lung(3)	6	Hepatocellular(266;0.158)					CAAAGAGGAGGGGAACCTAGA	0.478																																					p.G99R	Pancreas(32;764 914 7316 34504 37150)|Ovarian(64;846 1195 21996 34382 40415)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G295A	1						.						148.0	157.0	154.0					1																	156203446		2203	4300	6503	154470070	SO:0001583	missense	11243	exon3			AF141310	CCDS30886.1, CCDS55648.1, CCDS55649.1	1q22	2013-07-03			ENSG00000160783	ENSG00000160783			9112	protein-coding gene	gene with protein product		609176				10419538	Standard	NM_007221		Approved			Q6P1K2	OTTHUMG00000177123	ENST00000368273.4:c.301G>A	1.37:g.156203446G>A	ENSP00000357256:p.Gly101Arg		154470070	NM_001199663		Missense_Mutation	SNP	ENST00000368273.4	37	CCDS55648.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.209798	0.79240	.	.	ENSG00000160783	ENST00000368279;ENST00000368273;ENST00000368277;ENST00000368276;ENST00000320139	T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.33411	0.0862	L	0.61387	1.9	0.44587	D	0.997553	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;0.998;1.0	T	0.02173	-1.1201	10	0.41790	T	0.15	-13.2608	14.2769	0.66187	0.0:0.0:1.0:0.0	.	99;99;99	Q6P1K2-3;Q5TCK1;Q6P1K2	.;.;PMF1_HUMAN	R	99;101;99;99;99	ENSP00000357262:G99R;ENSP00000357256:G101R;ENSP00000357260:G99R;ENSP00000357259:G99R;ENSP00000324909:G99R	ENSP00000324909:G99R	G	+	1	0	PMF1	154470070	1.000000	0.71417	0.965000	0.40720	0.941000	0.58515	5.794000	0.69067	2.463000	0.83235	0.491000	0.48974	GGG		0.478	PMF1-005	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040864.2	NM_007221	
APOA1BP	128240	broad.mit.edu	37	1	156563826	156563826	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:156563826C>T	ENST00000368234.3	+	6	804	c.761C>T	c.(760-762)gCt>gTt	p.A254V	GPATCH4_ENST00000497287.1_5'Flank|APOA1BP_ENST00000368235.3_Silent_p.L273L					apolipoprotein A-I binding protein									p.L273L(1)		central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GAAGTACCAGCTGAACCTGCC	0.537																																					p.L273L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C817T	1						.						83.0	79.0	80.0					1																	156563826		2203	4300	6503	154830450	SO:0001583	missense	128240	exon6			AJ315849	CCDS1145.1	1q21	2008-08-14			ENSG00000163382	ENSG00000163382			18453	protein-coding gene	gene with protein product	"""apoA-I binding protein"""	608862				11991719, 17533573	Standard	NM_144772		Approved	AIBP, MGC119143, MGC119144, MGC119145, YJEFN1	uc001fph.3	Q8NCW5	OTTHUMG00000033206	ENST00000368234.3:c.761C>T	1.37:g.156563826C>T	ENSP00000357217:p.Ala254Val		154830450	NM_144772		Missense_Mutation	SNP	ENST00000368234.3	37		.	.	.	.	.	.	.	.	.	.	C	22.4	4.280466	0.80692	.	.	ENSG00000163382	ENST00000368234	T	0.54479	0.57	5.29	1.36	0.22044	.	.	.	.	.	T	0.16896	0.0406	.	.	.	0.80722	D	1	B	0.15141	0.012	B	0.11329	0.006	T	0.08472	-1.0720	8	0.19590	T	0.45	-18.4793	9.0981	0.36651	0.0:0.6977:0.0:0.3023	.	254	Q5T3I3	.	V	254	ENSP00000357217:A254V	ENSP00000357217:A254V	A	+	2	0	APOA1BP	154830450	0.995000	0.38212	0.996000	0.52242	0.991000	0.79684	2.227000	0.42972	0.003000	0.14656	0.563000	0.77884	GCT		0.537	APOA1BP-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000081045.1	NM_144772	
ISG20L2	81875	broad.mit.edu	37	1	156696924	156696924	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:156696924T>C	ENST00000313146.6	-	1	1303	c.521A>G	c.(520-522)aAg>aGg	p.K174R	ISG20L2_ENST00000368219.1_Missense_Mutation_p.K174R|ISG20L2_ENST00000472824.2_5'Flank|RRNAD1_ENST00000368216.4_5'Flank|RRNAD1_ENST00000524343.1_5'Flank|RRNAD1_ENST00000368218.4_5'Flank	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	174					ribosome biogenesis (GO:0042254)	nucleus (GO:0005634)	exonuclease activity (GO:0004527)|poly(A) RNA binding (GO:0044822)	p.K174R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCGTGGCAACTTCTGGGATGC	0.488											OREG0013885	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.K174R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A521G	1						.						147.0	131.0	137.0					1																	156696924		2203	4300	6503	154963548	SO:0001583	missense	81875	exon1			AK095697	CCDS1153.1	1q23.1	2013-10-11			ENSG00000143319	ENSG00000143319			25745	protein-coding gene	gene with protein product		611930				18065403	Standard	NM_030980		Approved	FLJ12671	uc001fps.1	Q9H9L3	OTTHUMG00000041301	ENST00000313146.6:c.521A>G	1.37:g.156696924T>C	ENSP00000323424:p.Lys174Arg	1780	154963548	NM_030980	D3DVC6|Q64KA2	Missense_Mutation	SNP	ENST00000313146.6	37	CCDS1153.1	.	.	.	.	.	.	.	.	.	.	T	3.049	-0.195842	0.06259	.	.	ENSG00000143319	ENST00000313146;ENST00000368219	T;T	0.23754	1.89;1.89	4.31	0.564	0.17302	.	1.093820	0.06971	N	0.818085	T	0.02970	0.0088	N	0.08118	0	0.09310	N	1	B	0.24092	0.097	B	0.16722	0.016	T	0.43327	-0.9398	10	0.17369	T	0.5	.	4.061	0.09839	0.0:0.2823:0.1772:0.5405	.	174	Q9H9L3	I20L2_HUMAN	R	174	ENSP00000323424:K174R;ENSP00000357202:K174R	ENSP00000323424:K174R	K	-	2	0	ISG20L2	154963548	0.222000	0.23652	0.001000	0.08648	0.003000	0.03518	2.192000	0.42649	0.074000	0.16767	-0.256000	0.11100	AAG		0.488	ISG20L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098969.1	NM_030980	
RRNAD1	51093	broad.mit.edu	37	1	156702198	156702198	+	Missense_Mutation	SNP	G	G	A	rs368662106		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:156702198G>A	ENST00000368216.4	+	3	992	c.362G>A	c.(361-363)cGa>cAa	p.R121Q	RRNAD1_ENST00000524343.1_Silent_p.P79P|RRNAD1_ENST00000368218.4_Missense_Mutation_p.R121Q|RRNAD1_ENST00000476229.1_Missense_Mutation_p.R19Q	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1	121						integral component of membrane (GO:0016021)	rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)	p.R121Q(1)		NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						CAGAGCTCCCGACTAACAGCT	0.607																																					p.R121Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G362A	1						.	G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	42.0	45.0	44.0		362,362	2.7	1.0	1		44	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RRNAD1	NM_001142560.1,NM_015997.3	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	121/278,121/476	156702198	1,13005	2203	4300	6503	154968822	SO:0001583	missense	51093	exon3			BC011382	CCDS1154.1, CCDS44246.1	1q23.1	2011-01-28	2011-01-28	2011-01-28	ENSG00000143303	ENSG00000143303			24273	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 66"""	C1orf66		10810093, 310876	Standard	NM_015997		Approved	CGI-41	uc001fpu.3	Q96FB5	OTTHUMG00000041302	ENST00000368216.4:c.362G>A	1.37:g.156702198G>A	ENSP00000357199:p.Arg121Gln		154968822	NM_015997	D3DVC7|Q4VX71|Q5SZ03|Q9Y358	Missense_Mutation	SNP	ENST00000368216.4	37	CCDS1154.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.69|15.69	2.909359|2.909359	0.52439|0.52439	0.0|0.0	1.16E-4|1.16E-4	ENSG00000143303|ENSG00000143303	ENST00000522237|ENST00000368218;ENST00000368216;ENST00000519086;ENST00000484742;ENST00000476229	.|T	.|0.41065	.|1.01	4.63|4.63	2.65|2.65	0.31530|0.31530	.|.	.|0.349485	.|0.27437	.|N	.|0.019378	T|T	0.05914|0.05914	0.0154|0.0154	N|N	0.08118|0.08118	0|0	0.25746|0.25746	N|N	0.985105|0.985105	.|B;B	.|0.21309	.|0.054;0.011	.|B;B	.|0.12837	.|0.008;0.004	T|T	0.28459|0.28459	-1.0043|-1.0043	5|10	.|0.15066	.|T	.|0.55	-7.125|-7.125	2.695|2.695	0.05132|0.05132	0.231:0.0:0.5268:0.2422|0.231:0.0:0.5268:0.2422	.|.	.|121;121	.|Q4VX71;Q96FB5	.|.;RRNAD_HUMAN	N|Q	8|121;121;121;19;19	.|ENSP00000357199:R121Q	.|ENSP00000357199:R121Q	D|R	+|+	1|2	0|0	RRNAD1|RRNAD1	154968822|154968822	0.998000|0.998000	0.40836|0.40836	0.995000|0.995000	0.50966|0.50966	0.994000|0.994000	0.84299|0.84299	2.012000|2.012000	0.40932|0.40932	2.397000|2.397000	0.81536|0.81536	0.561000|0.561000	0.74099|0.74099	GAC|CGA		0.607	RRNAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098973.1	NM_015997	
ARHGEF11	9826	broad.mit.edu	37	1	156931470	156931470	+	Splice_Site	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:156931470G>A	ENST00000361409.2	-	13	1860	c.1118C>T	c.(1117-1119)gCg>gTg	p.A373V	ARHGEF11_ENST00000368194.3_Splice_Site_p.A413V	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	373	RGSL. {ECO:0000255|PROSITE- ProRule:PRU00171}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A413V(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTGCCTTACCGCATTTTTCTC	0.413																																					p.A413V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1238T	1						.						73.0	78.0	76.0					1																	156931470		2203	4300	6503	155198094	SO:0001630	splice_region_variant	9826	exon14			AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.1119+1C>T	1.37:g.156931470G>A			155198094	NM_198236	D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	ENST00000361409.2	37	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	G	34	5.375551	0.95923	.	.	ENSG00000132694	ENST00000368194;ENST00000361409	D;D	0.88354	-2.37;-2.37	5.2	5.2	0.72013	Regulator of G protein signalling (2);Regulator of G protein signalling superfamily (1);Regulator of G protein signalling-like fold (1);	0.111507	0.39544	N	0.001329	D	0.92704	0.7681	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	0.999;1.0	P;P	0.56960	0.81;0.803	D	0.93297	0.6673	10	0.87932	D	0	-18.7949	18.5258	0.90971	0.0:0.0:1.0:0.0	.	373;413	O15085;O15085-2	ARHGB_HUMAN;.	V	413;373	ENSP00000357177:A413V;ENSP00000354644:A373V	ENSP00000354644:A373V	A	-	2	0	ARHGEF11	155198094	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.419000	0.80179	2.713000	0.92767	0.655000	0.94253	GCG		0.413	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236	Missense_Mutation
OR10J3	441911	broad.mit.edu	37	1	159283478	159283478	+	Silent	SNP	C	C	T	rs201786076		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:159283478C>T	ENST00000332217.5	-	1	971	c.972G>A	c.(970-972)gcG>gcA	p.A324A		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	324						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A324A(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					TATTTATAAACGCAAAGGAAA	0.398																																					p.A324A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G972A	1						.	C		0,4406		0,0,2203	49.0	54.0	53.0		972	-7.7	0.0	1		53	1,8597		0,1,4298	no	coding-synonymous	OR10J3	NM_001004467.1		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		324/330	159283478	1,13003	2203	4299	6502	157550102	SO:0001819	synonymous_variant	441911	exon1				CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266		"""GPCR / Class A : Olfactory receptors"""	14992	protein-coding gene	gene with protein product				OR10J3P			Standard	NM_001004467		Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233	ENST00000332217.5:c.972G>A	1.37:g.159283478C>T			157550102	NM_001004467		Silent	SNP	ENST00000332217.5	37	CCDS30909.1																																																																																				0.398	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090629.1		
SPEN	23013	broad.mit.edu	37	1	16202774	16202774	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:16202774G>A	ENST00000375759.3	+	3	686	c.482G>A	c.(481-483)cGg>cAg	p.R161Q	SPEN_ENST00000471538.1_3'UTR	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	161	Arg-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.R161Q(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GGATTTGATCGGACAAGACAT	0.478																																					p.R161Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G482A	1						.						78.0	71.0	73.0					1																	16202774		2203	4300	6503	16075361	SO:0001583	missense	23013	exon3				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.482G>A	1.37:g.16202774G>A	ENSP00000364912:p.Arg161Gln		16075361	NM_015001	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	CCDS164.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.577696	0.86645	.	.	ENSG00000065526	ENST00000375759;ENST00000438066;ENST00000375753	T;T	0.42513	2.71;0.97	5.79	5.79	0.91817	.	.	.	.	.	T	0.56543	0.1992	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.58381	-0.7646	9	0.87932	D	0	-8.2641	20.0299	0.97533	0.0:0.0:1.0:0.0	.	161	Q96T58	MINT_HUMAN	Q	161;120;120	ENSP00000364912:R161Q;ENSP00000388021:R120Q	ENSP00000364906:R120Q	R	+	2	0	SPEN	16075361	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.149000	0.94659	2.748000	0.94277	0.655000	0.94253	CGG		0.478	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001	
IGSF9	57549	broad.mit.edu	37	1	159898778	159898778	+	Silent	SNP	G	G	A	rs558403057		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:159898778G>A	ENST00000368094.1	-	19	2597	c.2400C>T	c.(2398-2400)agC>agT	p.S800S	IGSF9_ENST00000361509.3_Silent_p.S784S|IGSF9_ENST00000493195.1_5'UTR	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	800					dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.S784S(1)		central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GCTTCGCCACGCTGTCAGGAC	0.677																																					p.S800S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2400T	1						.						9.0	10.0	10.0					1																	159898778		2189	4277	6466	158165402	SO:0001819	synonymous_variant	57549	exon19			AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.2400C>T	1.37:g.159898778G>A			158165402	NM_001135050		Silent	SNP	ENST00000368094.1	37	CCDS44254.1																																																																																				0.677	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789	
MAEL	84944	broad.mit.edu	37	1	166973483	166973483	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:166973483A>G	ENST00000367872.4	+	6	834	c.590A>G	c.(589-591)cAa>cGa	p.Q197R	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.Q166R|RNA5SP65_ENST00000363166.1_RNA	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	197					cell differentiation (GO:0030154)|cell morphogenesis (GO:0000902)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|piRNA metabolic process (GO:0034587)|regulation of organ growth (GO:0046620)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	autosome (GO:0030849)|chromatin (GO:0000785)|chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|perinuclear region of cytoplasm (GO:0048471)|piP-body (GO:0071547)|XY body (GO:0001741)	DNA binding (GO:0003677)	p.Q197R(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						ACTGTGTTACAAAACCTTTAT	0.358																																					p.Q197R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A590G	1						.						89.0	92.0	91.0					1																	166973483		2203	4300	6503	165240107	SO:0001583	missense	84944	exon6			AK027810, DQ076156	CCDS1257.1, CCDS65712.1, CCDS72975.1	1q24.1	2013-10-11	2012-12-18		ENSG00000143194	ENSG00000143194			25929	protein-coding gene	gene with protein product	"""cancer/testis antigen 128"", ""spermatogenesis associated 35"""	611368	"""maelstrom homolog (Drosophila)"""			19693694, 18694567	Standard	NM_001286378		Approved	FLJ14904, CT128, SPATA35	uc001gdy.1	Q96JY0	OTTHUMG00000034432	ENST00000367872.4:c.590A>G	1.37:g.166973483A>G	ENSP00000356846:p.Gln197Arg		165240107	NM_032858	B4DY43|E9JVC3|Q49AP9|Q5VZP8|Q9UIW6	Missense_Mutation	SNP	ENST00000367872.4	37	CCDS1257.1	.	.	.	.	.	.	.	.	.	.	A	3.439	-0.114370	0.06881	.	.	ENSG00000143194	ENST00000367872;ENST00000367870;ENST00000447624	T;T;T	0.42131	1.0;0.98;0.98	5.7	3.35	0.38373	.	0.817879	0.10909	N	0.620802	T	0.04952	0.0133	N	0.03608	-0.345	0.24923	N	0.991969	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.41840	-0.9486	10	0.09843	T	0.71	.	4.0222	0.09670	0.6544:0.1921:0.1535:0.0	.	166;197	E9JVC3;Q96JY0	.;MAEL_HUMAN	R	197;166;166	ENSP00000356846:Q197R;ENSP00000356844:Q166R;ENSP00000402143:Q166R	ENSP00000356844:Q166R	Q	+	2	0	MAEL	165240107	0.815000	0.29118	0.993000	0.49108	0.992000	0.81027	0.739000	0.26173	0.953000	0.37825	0.482000	0.46254	CAA		0.358	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083239.1	NM_032858	
SCYL3	57147	broad.mit.edu	37	1	169836049	169836049	+	Missense_Mutation	SNP	G	G	A	rs564471940		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:169836049G>A	ENST00000367770.1	-	7	850	c.803C>T	c.(802-804)aCg>aTg	p.T268M	SCYL3_ENST00000470238.1_5'UTR|SCYL3_ENST00000367771.6_Missense_Mutation_p.T268M|SCYL3_ENST00000367772.4_Missense_Mutation_p.T268M			Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	268					cell migration (GO:0016477)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.T268M(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AAAGAATTCCGTTTTCTCCTC	0.294													G|||	1	0.000199681	0.0	0.0	5008	,	,		18449	0.0		0.0	False		,,,				2504	0.001				p.T268M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C803T	1						.						44.0	44.0	44.0					1																	169836049		2200	4289	6489	168102673	SO:0001583	missense	57147	exon8			BC014662	CCDS1286.1, CCDS1287.1	1q24.2	2008-02-05			ENSG00000000457	ENSG00000000457			19285	protein-coding gene	gene with protein product	"""ezrin-binding partner PACE-1"""	608192				12651155	Standard	NM_020423		Approved	PACE-1, PACE1	uc001ggs.3	Q8IZE3	OTTHUMG00000035941	ENST00000367770.1:c.803C>T	1.37:g.169836049G>A	ENSP00000356744:p.Thr268Met		168102673	NM_181093	A8K8Z2|Q5THA6|Q5THA8|Q8IZN9|Q96C56|Q9UBK6	Missense_Mutation	SNP	ENST00000367770.1	37	CCDS1287.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.973607	0.34848	.	.	ENSG00000000457	ENST00000367772;ENST00000367771;ENST00000367770;ENST00000423670	T;T;T;T	0.23552	1.9;1.9;1.9;1.9	5.4	4.49	0.54785	Armadillo-like helical (1);Armadillo-type fold (1);	0.047210	0.85682	D	0.000000	T	0.24275	0.0588	L	0.33485	1.01	0.36432	D	0.864967	D;D	0.89917	1.0;1.0	D;D	0.78314	0.984;0.991	T	0.10474	-1.0628	10	0.66056	D	0.02	-12.0321	8.7549	0.34639	0.0766:0.0:0.774:0.1494	.	268;268	Q8IZE3-2;Q8IZE3	.;PACE1_HUMAN	M	268	ENSP00000356746:T268M;ENSP00000356745:T268M;ENSP00000356744:T268M;ENSP00000407993:T268M	ENSP00000356744:T268M	T	-	2	0	SCYL3	168102673	1.000000	0.71417	1.000000	0.80357	0.120000	0.20174	6.096000	0.71446	1.279000	0.44446	-0.229000	0.12294	ACG		0.294	SCYL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087550.4	NM_181093	
PRRC2C	23215	broad.mit.edu	37	1	171535519	171535519	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:171535519C>T	ENST00000338920.4	+	21	6496	c.6259C>T	c.(6259-6261)Cgg>Tgg	p.R2087W	PRRC2C_ENST00000367742.3_Missense_Mutation_p.R2089W|PRRC2C_ENST00000426496.2_Missense_Mutation_p.R2087W|PRRC2C_ENST00000392078.3_Missense_Mutation_p.R2089W	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2087					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.R2089W(1)									TAAAGAACAGCGGCAGAAGCA	0.403																																					p.R2087W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6259T	1						.						26.0	27.0	27.0					1																	171535519		2203	4294	6497	169802143	SO:0001583	missense	23215	exon21			AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.6259C>T	1.37:g.171535519C>T	ENSP00000343629:p.Arg2087Trp		169802143	NM_015172	Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	ENST00000338920.4	37	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	C	14.91	2.676975	0.47886	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080	T;T;T;T	0.02301	4.35;4.36;4.36;4.36	5.17	4.23	0.50019	.	0.000000	0.42548	D	0.000682	T	0.04952	0.0133	L	0.56769	1.78	0.54753	D	0.999985	D	0.89917	1.0	D	0.91635	0.999	T	0.21381	-1.0247	10	0.62326	D	0.03	.	12.0876	0.53706	0.4795:0.5204:0.0:0.0	.	2087	Q9Y520-4	.	W	2089;2041;2087;2089;2087;1844	ENSP00000375928:R2089W;ENSP00000410219:R2087W;ENSP00000356716:R2089W;ENSP00000343629:R2087W	ENSP00000343629:R2087W	R	+	1	2	PRRC2C	169802143	1.000000	0.71417	0.961000	0.40146	0.983000	0.72400	4.205000	0.58466	1.109000	0.41680	0.655000	0.94253	CGG		0.403	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172	
TNN	63923	broad.mit.edu	37	1	175097224	175097224	+	Silent	SNP	C	C	T	rs528565931	byFrequency	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:175097224C>T	ENST00000239462.4	+	14	3215	c.3102C>T	c.(3100-3102)ggC>ggT	p.G1034G		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1034	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TTGAGCAAGGCGCCACCTACC	0.527													C|||	2	0.000399361	0.0015	0.0	5008	,	,		20402	0.0		0.0	False		,,,				2504	0.0				p.G1034G												.	.	0			c.C3102T	1						.						120.0	99.0	106.0					1																	175097224		2203	4300	6503	173363847	SO:0001819	synonymous_variant	63923	exon14			AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.3102C>T	1.37:g.175097224C>T			173363847	NM_022093	B9EGP3|Q5R360	Silent	SNP	ENST00000239462.4	37	CCDS30943.1																																																																																				0.527	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527	
PAPPA2	60676	broad.mit.edu	37	1	176563776	176563776	+	Missense_Mutation	SNP	C	C	T	rs542674982		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:176563776C>T	ENST00000367662.3	+	3	2200	c.1036C>T	c.(1036-1038)Cgc>Tgc	p.R346C	PAPPA2_ENST00000367661.3_Missense_Mutation_p.R346C	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	346					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R346S(2)|p.R346C(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTGCACCGACCGCGTGAAGAA	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		19291	0.0		0.0	False		,,,				2504	0.001				p.R346C												.	.	3	Substitution - Missense(3)	central_nervous_system(2)|large_intestine(1)	c.C1036T	1						.						59.0	61.0	60.0					1																	176563776		2095	4229	6324	174830399	SO:0001583	missense	60676	exon3			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1036C>T	1.37:g.176563776C>T	ENSP00000356634:p.Arg346Cys		174830399	NM_020318	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.643632	0.67244	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.74002	-0.8;-0.8	5.45	5.45	0.79879	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.246041	0.41194	D	0.000940	D	0.87301	0.6143	M	0.80183	2.485	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.986	D	0.88663	0.3190	10	0.87932	D	0	-15.4017	18.8948	0.92419	0.0:1.0:0.0:0.0	.	346;346	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	C	346	ENSP00000356634:R346C;ENSP00000356633:R346C	ENSP00000356633:R346C	R	+	1	0	PAPPA2	174830399	1.000000	0.71417	0.989000	0.46669	0.532000	0.34746	5.761000	0.68801	2.555000	0.86185	0.650000	0.86243	CGC		0.587	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1		
PADI6	353238	broad.mit.edu	37	1	17722086	17722086	+	RNA	SNP	A	A	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:17722086A>C	ENST00000434762.2	+	0	1596							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)	p.R514R(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AACTGTTCCGAGAGAAACAGA	0.522																																					p.R516R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1546C	1						.						26.0	28.0	27.0					1																	17722086		2019	4222	6241	17594673			353238	exon13			AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"""Peptidyl arginine deiminases"""	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17722086A>C			17594673	NM_207421	Q330K5|Q70SX3	Silent	SNP	ENST00000434762.2	37																																																																																					0.522	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4	NM_207421	
BRINP2	57795	broad.mit.edu	37	1	177249958	177249958	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:177249958G>A	ENST00000361539.4	+	8	1958	c.1646G>A	c.(1645-1647)cGc>cAc	p.R549H	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	549					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)		p.R549H(1)									TGGAGGAAGCGCATGCTGCTC	0.552																																					p.R549H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1646A	1						.						53.0	43.0	46.0					1																	177249958		2203	4300	6503	175516581	SO:0001583	missense	57795	exon8				CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.1646G>A	1.37:g.177249958G>A	ENSP00000354481:p.Arg549His		175516581	NM_021165	O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.348307	0.82132	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.20598	2.06	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.50497	0.1619	M	0.78801	2.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	T	0.53858	-0.8379	10	0.72032	D	0.01	-20.5035	18.6898	0.91578	0.0:0.0:1.0:0.0	.	444;549	Q9C0B6-2;Q9C0B6	.;FAM5B_HUMAN	H	302;549	ENSP00000354481:R549H	ENSP00000354481:R549H	R	+	2	0	FAM5B	175516581	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.731000	0.98807	2.514000	0.84764	0.313000	0.20887	CGC		0.552	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165	
RGL1	23179	broad.mit.edu	37	1	183876197	183876197	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:183876197G>A	ENST00000360851.3	+	14	1702	c.1524G>A	c.(1522-1524)tcG>tcA	p.S508S	RGL1_ENST00000539189.1_Silent_p.S479S|RGL1_ENST00000536277.1_Silent_p.S506S|RGL1_ENST00000304685.4_Silent_p.S543S			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	508					cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)	p.S543S(2)		breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						GCACCACCTCGCCCAAGCCTC	0.552																																					p.S543S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1629A	1						.						48.0	44.0	45.0					1																	183876197		2203	4300	6503	182142820	SO:0001819	synonymous_variant	23179	exon15			AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.1524G>A	1.37:g.183876197G>A			182142820	NM_015149	Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Silent	SNP	ENST00000360851.3	37																																																																																					0.552	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	NM_015149	
ALDH4A1	8659	broad.mit.edu	37	1	19203999	19203999	+	Missense_Mutation	SNP	C	C	T	rs142969512		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:19203999C>T	ENST00000375341.3	-	10	1305	c.1048G>A	c.(1048-1050)Gcg>Acg	p.A350T	RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000538839.1_Missense_Mutation_p.A350T|ALDH4A1_ENST00000538309.1_Missense_Mutation_p.A290T|ALDH4A1_ENST00000290597.5_Missense_Mutation_p.A350T	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	350					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802)	p.A350T(1)		cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CGCGAGCACGCGGAACACTTC	0.647																																					p.A350T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1048A	1						.						32.0	31.0	32.0					1																	19203999		2202	4299	6501	19076586	SO:0001583	missense	8659	exon10			U24266	CCDS188.1, CCDS53272.1	1p36	2008-02-05			ENSG00000159423	ENSG00000159423	1.5.1.12	"""Aldehyde dehydrogenases"""	406	protein-coding gene	gene with protein product		606811		ALDH4		8621661	Standard	NM_003748		Approved	P5CDh	uc001bbc.3	P30038	OTTHUMG00000002443	ENST00000375341.3:c.1048G>A	1.37:g.19203999C>T	ENSP00000364490:p.Ala350Thr		19076586	NM_170726	A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6	Missense_Mutation	SNP	ENST00000375341.3	37	CCDS188.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.283059	0.80803	.	.	ENSG00000159423	ENST00000290597;ENST00000375341;ENST00000538839;ENST00000538309	T;T;T;T	0.39787	1.06;1.06;1.06;1.06	4.66	4.66	0.58398	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);Aldehyde dehydrogenase, conserved site (1);	0.115027	0.64402	D	0.000016	T	0.72882	0.3516	H	0.95260	3.645	0.80722	D	1	D	0.69078	0.997	D	0.63793	0.918	T	0.83076	-0.0140	10	0.87932	D	0	-29.8698	16.1125	0.81273	0.0:1.0:0.0:0.0	.	350	P30038	AL4A1_HUMAN	T	350;350;350;290	ENSP00000290597:A350T;ENSP00000364490:A350T;ENSP00000446071:A350T;ENSP00000442988:A290T	ENSP00000290597:A350T	A	-	1	0	ALDH4A1	19076586	1.000000	0.71417	0.883000	0.34634	0.257000	0.26127	7.225000	0.78051	2.153000	0.67306	0.561000	0.74099	GCG		0.647	ALDH4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006954.1		
UBR4	23352	broad.mit.edu	37	1	19439345	19439345	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:19439345C>T	ENST00000375254.3	-	78	11501	c.11474G>A	c.(11473-11475)cGc>cAc	p.R3825H	UBR4_ENST00000375217.2_Missense_Mutation_p.R3818H|UBR4_ENST00000375226.2_Missense_Mutation_p.R3801H|UBR4_ENST00000375267.2_Missense_Mutation_p.R3825H|UBR4_ENST00000375218.3_3'UTR	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3825					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R3825H(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CAACTCTTTGCGCGAAGCAAA	0.423																																					p.R3825H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G11474A	1						.						138.0	141.0	140.0					1																	19439345		2203	4300	6503	19311932	SO:0001583	missense	23352	exon78			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.11474G>A	1.37:g.19439345C>T	ENSP00000364403:p.Arg3825His		19311932	NM_020765	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.828540	0.90955	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226	T;T;T;T	0.36340	1.27;1.26;1.31;1.32	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.60222	0.2252	M	0.69523	2.12	0.80722	D	1	D	0.71674	0.998	D	0.69479	0.964	T	0.62096	-0.6926	10	0.62326	D	0.03	.	17.9583	0.89076	0.0:1.0:0.0:0.0	.	3825	Q5T4S7	UBR4_HUMAN	H	3825;3825;3818;3801	ENSP00000364403:R3825H;ENSP00000364416:R3825H;ENSP00000364365:R3818H;ENSP00000364374:R3801H	ENSP00000364365:R3818H	R	-	2	0	UBR4	19311932	1.000000	0.71417	0.972000	0.41901	0.941000	0.58515	7.276000	0.78559	2.581000	0.87130	0.655000	0.94253	CGC		0.423	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765	
TPR	7175	broad.mit.edu	37	1	186303547	186303547	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:186303547G>A	ENST00000367478.4	-	36	5388	c.5092C>T	c.(5092-5094)Cgc>Tgc	p.R1698C		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1698					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.R1699C(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		ACCATTGGGCGGATACTAGCC	0.468			T	NTRK1	papillary thyroid																																p.R1698C			Dom	yes		1	1q25	7175	translocated promoter region		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5092T	1						.						178.0	176.0	177.0					1																	186303547		1951	4139	6090	184570170	SO:0001583	missense	7175	exon36			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.5092C>T	1.37:g.186303547G>A	ENSP00000356448:p.Arg1698Cys		184570170	NM_003292	Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446221	0.84101	.	.	ENSG00000047410	ENST00000367478	T	0.28895	1.59	5.41	5.41	0.78517	.	0.047890	0.85682	D	0.000000	T	0.59445	0.2194	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.62950	-0.6745	10	0.87932	D	0	.	19.5721	0.95425	0.0:0.0:1.0:0.0	.	1698	P12270	TPR_HUMAN	C	1698	ENSP00000356448:R1698C	ENSP00000356448:R1698C	R	-	1	0	TPR	184570170	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.758000	0.68776	2.689000	0.91719	0.563000	0.77884	CGC		0.468	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292	
CFH	3075	broad.mit.edu	37	1	196658607	196658607	+	Missense_Mutation	SNP	G	G	A	rs371192606		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:196658607G>A	ENST00000359637.2	+	7	892	c.830G>A	c.(829-831)cGt>cAt	p.R277H	CFH_ENST00000367429.4_Missense_Mutation_p.R341H|CFH_ENST00000439155.2_Missense_Mutation_p.R341H			P08603	CFAH_HUMAN	complement factor H	341	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)	p.R341H(2)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GAGAATATGCGTAGACCATAC	0.333																																					p.R341H												.	.	2	Substitution - Missense(2)	urinary_tract(1)|large_intestine(1)	c.G1022A	1						.	G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	95.0	91.0	92.0		1022,1022	-0.8	0.0	1		92	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CFH	NM_000186.3,NM_001014975.2	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	341/1232,341/450	196658607	1,13005	2203	4300	6503	194925230	SO:0001583	missense	3075	exon8			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.830G>A	1.37:g.196658607G>A	ENSP00000352658:p.Arg277His		194925230	NM_000186	A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000359637.2	37		.	.	.	.	.	.	.	.	.	.	G	15.05	2.718164	0.48622	0.0	1.16E-4	ENSG00000000971	ENST00000367429;ENST00000439155;ENST00000391986;ENST00000359637	T;T;T	0.72282	-0.64;-0.64;-0.64	5.61	-0.758	0.11049	Complement control module (2);Sushi/SCR/CCP (2);	.	.	.	.	T	0.75561	0.3866	M	0.65975	2.015	0.09310	N	1	D;B;D	0.76494	0.999;0.006;0.981	D;B;P	0.70935	0.971;0.003;0.641	T	0.61544	-0.7041	9	0.37606	T	0.19	.	2.8522	0.05561	0.4256:0.0:0.2655:0.3089	.	277;341;341	Q5TFM2;P08603;F8WDX4	.;CFAH_HUMAN;.	H	341;341;341;277	ENSP00000356399:R341H;ENSP00000402656:R341H;ENSP00000352658:R277H	ENSP00000352658:R277H	R	+	2	0	CFH	194925230	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.799000	0.04560	-0.079000	0.12707	-0.302000	0.09304	CGT		0.333	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000087502.1	NM_000186	
ASPM	259266	broad.mit.edu	37	1	197072307	197072307	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:197072307A>G	ENST00000367409.4	-	18	6330	c.6074T>C	c.(6073-6075)gTa>gCa	p.V2025A	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2025	IQ 14. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.V2025A(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTGTAAAGTTACTACAGCTGC	0.333																																					p.V2025A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T6074C	1						.						88.0	92.0	91.0					1																	197072307		2203	4297	6500	195338930	SO:0001583	missense	259266	exon18			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.6074T>C	1.37:g.197072307A>G	ENSP00000356379:p.Val2025Ala		195338930	NM_018136	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	a	13.88	2.368159	0.42003	.	.	ENSG00000066279	ENST00000367409	T	0.30714	1.52	5.6	5.6	0.85130	.	0.748191	0.12513	N	0.462359	T	0.63651	0.2529	H	0.94503	3.545	0.80722	D	1	D	0.60160	0.987	D	0.65140	0.932	T	0.68618	-0.5361	10	0.72032	D	0.01	.	9.4882	0.38942	0.9213:0.0:0.0787:0.0	.	2025	Q8IZT6	ASPM_HUMAN	A	2025	ENSP00000356379:V2025A	ENSP00000356379:V2025A	V	-	2	0	ASPM	195338930	0.908000	0.30866	0.004000	0.12327	0.132000	0.20833	7.290000	0.78711	2.136000	0.66102	0.524000	0.50904	GTA		0.333	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136	
CRB1	23418	broad.mit.edu	37	1	197390428	197390428	+	Silent	SNP	C	C	T	rs35193230	byFrequency	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:197390428C>T	ENST00000367400.3	+	6	1605	c.1470C>T	c.(1468-1470)ggC>ggT	p.G490G	CRB1_ENST00000367399.2_Silent_p.G378G|CRB1_ENST00000538660.1_Silent_p.G490G|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000535699.1_Silent_p.G421G|CRB1_ENST00000544212.1_5'UTR|CRB1_ENST00000543483.1_Silent_p.G189G|CRB1_ENST00000476483.1_3'UTR	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	490	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G490G(3)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CATTTGAGGGCGATGGCTTCC	0.517													C|||	12	0.00239617	0.0076	0.0014	5008	,	,		19803	0.0		0.0	False		,,,				2504	0.001				p.G490G												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.C1470T	1						.	C	,	35,4371	40.8+/-73.8	0,35,2168	104.0	93.0	97.0		1134,1470	-0.9	0.0	1	dbSNP_126	97	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	CRB1	NM_001193640.1,NM_201253.2	,	0,37,6466	TT,TC,CC		0.0233,0.7944,0.2845	,	378/1295,490/1407	197390428	37,12969	2203	4300	6503	195657051	SO:0001819	synonymous_variant	23418	exon6				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.1470C>T	1.37:g.197390428C>T			195657051	NM_201253	A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Silent	SNP	ENST00000367400.3	37	CCDS1390.1																																																																																				0.517	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253	
LHX9	56956	broad.mit.edu	37	1	197890733	197890733	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:197890733G>A	ENST00000367387.4	+	3	1102	c.677G>A	c.(676-678)cGg>cAg	p.R226Q	LHX9_ENST00000561173.1_Missense_Mutation_p.R232Q|LHX9_ENST00000337020.2_Missense_Mutation_p.R226Q|LHX9_ENST00000367391.1_Missense_Mutation_p.R217Q|LHX9_ENST00000367390.3_Missense_Mutation_p.R217Q	NM_020204.2	NP_064589.2	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	226					cell proliferation (GO:0008283)|female gonad development (GO:0008585)|gonad morphogenesis (GO:0035262)|male gonad development (GO:0008584)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.R226Q(1)|p.R217Q(1)		endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						CAGAAAGGGCGGCCCCGGAAG	0.667																																					p.R226Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G677A	1						.						26.0	24.0	24.0					1																	197890733		2203	4300	6503	196157356	SO:0001583	missense	56956	exon3			AJ277915	CCDS1393.1, CCDS30962.1	1q31.1	2011-06-20			ENSG00000143355	ENSG00000143355		"""Homeoboxes / LIM class"""	14222	protein-coding gene	gene with protein product		606066					Standard	NM_020204		Approved		uc001guk.1	Q9NQ69	OTTHUMG00000035656	ENST00000367387.4:c.677G>A	1.37:g.197890733G>A	ENSP00000356357:p.Arg226Gln		196157356	NM_020204	Q5VUE2|Q5VUE3|Q5VUE6|Q86UH2|Q9BYU6|Q9NQ70	Missense_Mutation	SNP	ENST00000367387.4	37	CCDS1393.1	.	.	.	.	.	.	.	.	.	.	G	36	5.740966	0.96873	.	.	ENSG00000143355	ENST00000367391;ENST00000367390;ENST00000337020;ENST00000367387	T;D;T;D	0.89681	0.36;-2.53;0.27;-2.55	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.94456	0.8216	M	0.80422	2.495	0.80722	D	1	D;D;D	0.69078	0.992;0.997;0.995	P;D;P	0.66497	0.722;0.944;0.856	D	0.93358	0.6724	10	0.45353	T	0.12	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	226;217;217	Q9NQ69;Q9NQ69-3;Q9NQ69-2	LHX9_HUMAN;.;.	Q	217;217;226;226	ENSP00000356361:R217Q;ENSP00000356360:R217Q;ENSP00000337969:R226Q;ENSP00000356357:R226Q	ENSP00000337969:R226Q	R	+	2	0	LHX9	196157356	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.257000	0.95545	2.941000	0.99782	0.655000	0.94253	CGG		0.667	LHX9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086547.2	NM_020204	
MYBPH	4608	broad.mit.edu	37	1	203140636	203140636	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:203140636C>T	ENST00000255416.4	-	5	725	c.668G>A	c.(667-669)cGc>cAc	p.R223H		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	223	Ig-like C2-type 1.				cell adhesion (GO:0007155)|regulation of striated muscle contraction (GO:0006942)	myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.R223H(1)		endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		GTCCCCGGTGCGCATGCTCAC	0.667																																					p.R223H	NSCLC(32;174 1025 14462 23899 42933)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G668A	1						.						63.0	63.0	63.0					1																	203140636		2203	4300	6503	201407259	SO:0001583	missense	4608	exon5			BC044226	CCDS30975.1	1q32.1	2013-02-11	2001-11-28		ENSG00000133055	ENSG00000133055		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7552	protein-coding gene	gene with protein product		160795	"""myosin-binding protein H"""			8486381	Standard	NM_004997		Approved		uc001gzh.1	Q13203	OTTHUMG00000042121	ENST00000255416.4:c.668G>A	1.37:g.203140636C>T	ENSP00000255416:p.Arg223His		201407259	NM_004997	Q16886|Q86YC5	Missense_Mutation	SNP	ENST00000255416.4	37	CCDS30975.1	.	.	.	.	.	.	.	.	.	.	C	32	5.184533	0.94885	.	.	ENSG00000133055	ENST00000255416	T	0.67698	-0.28	4.62	4.62	0.57501	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.53938	D	0.000042	T	0.77377	0.4121	M	0.90309	3.105	0.53688	D	0.999973	P	0.38597	0.639	B	0.42163	0.378	D	0.83486	0.0067	10	0.87932	D	0	.	18.0099	0.89220	0.0:1.0:0.0:0.0	.	223	Q13203	MYBPH_HUMAN	H	223	ENSP00000255416:R223H	ENSP00000255416:R223H	R	-	2	0	MYBPH	201407259	1.000000	0.71417	0.973000	0.42090	0.977000	0.68977	7.211000	0.77933	2.554000	0.86153	0.561000	0.74099	CGC		0.667	MYBPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100264.1	NM_004997	
SOX13	9580	broad.mit.edu	37	1	204095104	204095104	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:204095104A>G	ENST00000367204.1	+	14	1820	c.1711A>G	c.(1711-1713)Atg>Gtg	p.M571V		NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	571					anatomical structure morphogenesis (GO:0009653)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.M571V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			GGACCCCAACATGCCTGTGAT	0.612																																					p.M571V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1711G	1						.						76.0	86.0	82.0					1																	204095104		2152	4237	6389	202361727	SO:0001583	missense	9580	exon14				CCDS44299.1	1q32	2008-07-18			ENSG00000143842	ENSG00000143842		"""SRY (sex determining region Y)-boxes"""	11192	protein-coding gene	gene with protein product	"""islet cell antibody 12"", ""SRY-related HMG-box gene 13"", ""type 1 diabetes autoantigen"", ""SRY-box 13"""	604748				10198172	Standard	NM_005686		Approved	Sox-13, ICA12, MGC117216	uc001ham.3	Q9UN79	OTTHUMG00000036050	ENST00000367204.1:c.1711A>G	1.37:g.204095104A>G	ENSP00000356172:p.Met571Val		202361727	NM_005686	B4E2B0|O95275|O95826|Q3KQV7|Q5SXX1|Q9UHW7	Missense_Mutation	SNP	ENST00000367204.1	37	CCDS44299.1	.	.	.	.	.	.	.	.	.	.	A	17.94	3.511002	0.64522	.	.	ENSG00000143842	ENST00000367204	T	0.51071	0.72	4.58	4.58	0.56647	.	0.158280	0.56097	D	0.000025	T	0.42223	0.1193	L	0.47716	1.5	0.25052	N	0.991127	B;B;B	0.22346	0.068;0.068;0.068	B;B;B	0.21546	0.035;0.035;0.035	T	0.44605	-0.9317	10	0.66056	D	0.02	.	12.6293	0.56649	1.0:0.0:0.0:0.0	.	438;438;571	B4DX26;B4E3N9;Q9UN79	.;.;SOX13_HUMAN	V	571	ENSP00000356172:M571V	ENSP00000356172:M571V	M	+	1	0	SOX13	202361727	0.979000	0.34478	1.000000	0.80357	0.993000	0.82548	1.935000	0.40173	2.054000	0.61138	0.459000	0.35465	ATG		0.612	SOX13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087881.2	NM_005686	
NFASC	23114	broad.mit.edu	37	1	204913509	204913509	+	Silent	SNP	C	C	T	rs138639366	byFrequency	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:204913509C>T	ENST00000401399.1	+	2	265	c.66C>T	c.(64-66)ggC>ggT	p.G22G	NFASC_ENST00000539706.1_Silent_p.G22G|NFASC_ENST00000404907.1_Silent_p.G22G|NFASC_ENST00000367170.4_Silent_p.G22G|NFASC_ENST00000338586.6_Silent_p.G22G|NFASC_ENST00000513543.1_Silent_p.G22G|NFASC_ENST00000403080.1_Silent_p.G22G|NFASC_ENST00000339876.6_Silent_p.G22G|NFASC_ENST00000360049.4_Silent_p.G22G|NFASC_ENST00000367169.4_Silent_p.G22G|NFASC_ENST00000404076.1_Silent_p.G22G|NFASC_ENST00000338515.6_Silent_p.G22G|NFASC_ENST00000367172.4_Silent_p.G22G|NFASC_ENST00000367171.4_Silent_p.G22G			O94856	NFASC_HUMAN	neurofascin	22					axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)		p.G22G(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TCAGTCTTGGCGGAGCCATCG	0.612													C|||	2	0.000399361	0.0015	0.0	5008	,	,		15819	0.0		0.0	False		,,,				2504	0.0				p.G22G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C66T	1						.	C	,,,,,	2,4404	4.2+/-10.8	0,2,2201	54.0	49.0	51.0		66,66,66,66,66,66	-4.0	0.0	1	dbSNP_134	51	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NFASC	NM_001005388.2,NM_001005389.1,NM_001160331.1,NM_001160332.1,NM_001160333.1,NM_015090.3	,,,,,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,,,,,	22/1241,22/620,22/1190,22/1175,22/614,22/1170	204913509	2,13004	2203	4300	6503	203180132	SO:0001819	synonymous_variant	23114	exon1			AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.66C>T	1.37:g.204913509C>T			203180132	NM_001160331	B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Silent	SNP	ENST00000401399.1	37	CCDS53460.1																																																																																				0.612	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388	
DSTYK	25778	broad.mit.edu	37	1	205156890	205156890	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:205156890G>T	ENST00000367162.3	-	2	340	c.310C>A	c.(310-312)Ctc>Atc	p.L104I	DSTYK_ENST00000367160.4_Missense_Mutation_p.L104I|DSTYK_ENST00000367161.3_Missense_Mutation_p.L104I	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	104					cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.L104I(1)		breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						ATCTGCTGGAGGTACTTCTCT	0.542																																					p.L104I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C310A	1						.						45.0	39.0	41.0					1																	205156890		2203	4300	6503	203423513	SO:0001583	missense	25778	exon2			AF068286	CCDS1451.1, CCDS1452.1	1q32	2008-12-18	2008-12-18	2008-12-18	ENSG00000133059	ENSG00000133059			29043	protein-coding gene	gene with protein product		612666	"""receptor interacting protein kinase 5"""	RIPK5		15178406	Standard	NM_015375		Approved	KIAA0472, DustyPK, RIP5	uc001hbw.3	Q6XUX3	OTTHUMG00000037102	ENST00000367162.3:c.310C>A	1.37:g.205156890G>T	ENSP00000356130:p.Leu104Ile		203423513	NM_015375	B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	Missense_Mutation	SNP	ENST00000367162.3	37	CCDS1451.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.985644	0.74589	.	.	ENSG00000133059	ENST00000367160;ENST00000367161;ENST00000367162	T;T;T	0.80480	-1.03;-1.34;-1.38	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.80099	0.4561	L	0.36672	1.1	0.80722	D	1	D;P	0.54207	0.965;0.941	P;B	0.49047	0.599;0.395	T	0.80752	-0.1242	10	0.46703	T	0.11	-15.423	18.7507	0.91814	0.0:0.0:1.0:0.0	.	104;104	Q6XUX3-2;Q6XUX3	.;DUSTY_HUMAN	I	104	ENSP00000356128:L104I;ENSP00000356129:L104I;ENSP00000356130:L104I	ENSP00000356128:L104I	L	-	1	0	DSTYK	203423513	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	9.339000	0.96797	2.523000	0.85059	0.455000	0.32223	CTC		0.542	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090345.1	NM_015375	
TMCC2	9911	broad.mit.edu	37	1	205238641	205238641	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:205238641C>T	ENST00000358024.3	+	3	1700	c.1311C>T	c.(1309-1311)ggC>ggT	p.G437G	TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000545499.1_Silent_p.G359G|TMCC2_ENST00000330675.7_Silent_p.G212G|TMCC2_ENST00000329800.7_Silent_p.G197G	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	437						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			ACAAGTTTGGCAGTGCTGACA	0.662																																					p.G437G												.	.	0			c.C1311T	1						.						50.0	56.0	54.0					1																	205238641		2203	4300	6503	203505264	SO:0001819	synonymous_variant	9911	exon3			AB001596	CCDS30984.1, CCDS55676.1, CCDS73010.1	1q32.1	2008-02-05	2005-07-13		ENSG00000133069	ENSG00000133069		"""Transmembrane and coiled-coil domain containing"""	24239	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 2"""			9455484	Standard	NM_014858		Approved	HUCEP11, FLJ38497	uc021pia.1	O75069	OTTHUMG00000037195	ENST00000358024.3:c.1311C>T	1.37:g.205238641C>T			203505264	NM_014858	A2RRH3|B7Z1P7|Q6ZN09	Silent	SNP	ENST00000358024.3	37	CCDS30984.1																																																																																				0.662	TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090383.1	NM_014858	
LAMB3	3914	broad.mit.edu	37	1	209800897	209800897	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:209800897C>T	ENST00000356082.4	-	12	1450	c.1316G>A	c.(1315-1317)cGg>cAg	p.R439Q	LAMB3_ENST00000391911.1_Missense_Mutation_p.R439Q|LAMB3_ENST00000367030.3_Missense_Mutation_p.R439Q	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	439	Laminin EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00460}.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.R439Q(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CATGTCCCTCCGGGACCCCAG	0.607											OREG0014217	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R439Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1316A	1						.						55.0	50.0	51.0					1																	209800897		2203	4300	6503	207867520	SO:0001583	missense	3914	exon11			D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.1316G>A	1.37:g.209800897C>T	ENSP00000348384:p.Arg439Gln	2185	207867520	NM_001017402	D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	ENST00000356082.4	37	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.865603	0.51588	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030	T;T;T	0.54479	0.57;0.57;0.57	5.13	1.02	0.19986	EGF-like, laminin (3);	0.682291	0.15365	N	0.266181	T	0.49338	0.1551	L	0.35414	1.06	0.09310	N	1	D	0.71674	0.998	P	0.59703	0.862	T	0.36601	-0.9741	10	0.23891	T	0.37	.	5.6706	0.17721	0.0:0.5788:0.13:0.2912	.	439	Q13751	LAMB3_HUMAN	Q	439	ENSP00000375778:R439Q;ENSP00000348384:R439Q;ENSP00000355997:R439Q	ENSP00000348384:R439Q	R	-	2	0	LAMB3	207867520	0.000000	0.05858	0.014000	0.15608	0.501000	0.33797	-0.177000	0.09796	0.010000	0.14839	0.478000	0.44815	CGG		0.607	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228	
LAMB3	3914	broad.mit.edu	37	1	209803268	209803268	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:209803268A>G	ENST00000356082.4	-	10	1080	c.946T>C	c.(946-948)Tgc>Cgc	p.C316R	LAMB3_ENST00000391911.1_Missense_Mutation_p.C316R|LAMB3_ENST00000367030.3_Missense_Mutation_p.C316R	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	316	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.C316R(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		TTGCAGTCGCACCCTGGAAAA	0.547																																					p.C316R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T946C	1						.						63.0	59.0	60.0					1																	209803268		2203	4300	6503	207869891	SO:0001583	missense	3914	exon9			D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.946T>C	1.37:g.209803268A>G	ENSP00000348384:p.Cys316Arg		207869891	NM_001017402	D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	ENST00000356082.4	37	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.070695	0.76301	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030	D;D;D	0.95980	-3.87;-3.87;-3.87	5.66	4.52	0.55395	EGF-like, laminin (3);	0.000000	0.85682	D	0.000000	D	0.98343	0.9450	H	0.96489	3.83	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98563	1.0642	10	0.87932	D	0	.	12.6042	0.56514	0.8611:0.1389:0.0:0.0	.	316	Q13751	LAMB3_HUMAN	R	316	ENSP00000375778:C316R;ENSP00000348384:C316R;ENSP00000355997:C316R	ENSP00000348384:C316R	C	-	1	0	LAMB3	207869891	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.477000	0.90424	0.964000	0.38108	0.529000	0.55759	TGC		0.547	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228	
TRAF3IP3	80342	broad.mit.edu	37	1	209955413	209955413	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:209955413C>T	ENST00000367024.1	+	17	2092	c.1576C>T	c.(1576-1578)Cga>Tga	p.R526*	TRAF3IP3_ENST00000010338.4_Nonsense_Mutation_p.R506*|TRAF3IP3_ENST00000367026.3_Nonsense_Mutation_p.R506*|TRAF3IP3_ENST00000367025.3_Nonsense_Mutation_p.R526*|TRAF3IP3_ENST00000467830.1_3'UTR|TRAF3IP3_ENST00000477431.1_Missense_Mutation_p.A137V			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	526						integral component of membrane (GO:0016021)		p.R506*(1)		breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		GCAATGTGGGCGATGGCTCCC	0.483																																					p.R526X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1576T	1						.						120.0	110.0	113.0					1																	209955413		2203	4300	6503	208022036	SO:0001587	stop_gained	80342	exon17				CCDS1490.1, CCDS1490.2, CCDS73023.1	1q32.3-q41	2008-02-05			ENSG00000009790	ENSG00000009790			30766	protein-coding gene	gene with protein product	"""TRAF3 interacting Jun N terminal kinase (JNK) activating modulator"""	608255				14572659	Standard	XR_247044		Approved	T3JAM	uc001hho.3	Q9Y228	OTTHUMG00000036480	ENST00000367024.1:c.1576C>T	1.37:g.209955413C>T	ENSP00000355991:p.Arg526*		208022036	NM_025228	A1L464|A6NIU9|Q2YDB5|Q4VY06|Q7Z706	Nonsense_Mutation	SNP	ENST00000367024.1	37	CCDS1490.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.635127|7.635127	0.98403|0.98403	.|.	.|.	ENSG00000009790|ENSG00000009790	ENST00000477431|ENST00000367025;ENST00000367026;ENST00000367024;ENST00000010338	T|.	0.49720|.	0.77|.	5.29|5.29	3.39|3.39	0.38822|0.38822	.|.	.|1.495790	.|0.04223	.|N	.|0.333821	T|.	0.30386|.	0.0763|.	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999999|0.999999	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.50320|.	-0.8842|.	6|.	0.30078|0.06891	T|T	0.28|0.86	1.3197|1.3197	5.0951|5.0951	0.14729|0.14729	0.1833:0.6673:0.0:0.1494|0.1833:0.6673:0.0:0.1494	.|.	.|.	.|.	.|.	V|X	137|526;506;526;506	ENSP00000417417:A137V|.	ENSP00000417417:A137V|ENSP00000010338:R506X	A|R	+|+	2|1	0|2	TRAF3IP3|TRAF3IP3	208022036|208022036	0.001000|0.001000	0.12720|0.12720	0.586000|0.586000	0.28679|0.28679	0.524000|0.524000	0.34500|0.34500	0.243000|0.243000	0.18106|0.18106	2.473000|2.473000	0.83533|0.83533	0.557000|0.557000	0.71058|0.71058	GCG|CGA		0.483	TRAF3IP3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088734.2		
DTL	51514	broad.mit.edu	37	1	212251579	212251579	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:212251579G>A	ENST00000366991.4	+	12	1414	c.1100G>A	c.(1099-1101)tGc>tAc	p.C367Y	DTL_ENST00000475419.1_3'UTR|DTL_ENST00000542077.1_Missense_Mutation_p.C325Y|MIR3122_ENST00000577243.1_RNA	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	367					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|chromosome (GO:0005694)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.C367Y(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		ACGTCTGTGTGCTGGTGTCCA	0.418																																					p.C367Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1100A	1						.						147.0	132.0	137.0					1																	212251579		2203	4300	6503	210318202	SO:0001583	missense	51514	exon12			AF195765	CCDS1502.1, CCDS65778.1	1q32	2013-01-10	2012-02-23		ENSG00000143476	ENSG00000143476		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"""	30288	protein-coding gene	gene with protein product	"""RA regulated nuclear matrix associated protein"", ""DDB1 and CUL4 associated factor 2"""	610617	"""denticleless homolog (Drosophila)"""			11278750	Standard	NM_001286229		Approved	RAMP, L2DTL, DCAF2	uc009xdc.3	Q9NZJ0	OTTHUMG00000037133	ENST00000366991.4:c.1100G>A	1.37:g.212251579G>A	ENSP00000355958:p.Cys367Tyr		210318202	NM_016448	A8K8H8|D3DT98|Q5VT77|Q96SN0|Q9NW03|Q9NW34|Q9NWM5	Missense_Mutation	SNP	ENST00000366991.4	37	CCDS1502.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.902253	0.72754	.	.	ENSG00000143476	ENST00000366991;ENST00000542077	T;T	0.60672	0.17;0.17	5.9	5.9	0.94986	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.202617	0.48767	D	0.000166	T	0.65873	0.2733	L	0.48260	1.515	0.38226	D	0.940896	D;D;D	0.64830	0.993;0.994;0.994	P;P;P	0.58266	0.747;0.836;0.836	T	0.70360	-0.4893	10	0.87932	D	0	-8.6859	13.758	0.62948	0.0:0.2579:0.7421:0.0	.	325;367;325	F5GZ90;Q9NZJ0;B4E0E6	.;DTL_HUMAN;.	Y	367;325	ENSP00000355958:C367Y;ENSP00000443870:C325Y	ENSP00000355958:C367Y	C	+	2	0	DTL	210318202	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.332000	0.52083	2.808000	0.96608	0.650000	0.86243	TGC		0.418	DTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090182.1	NM_016448	
ECE1	1889	broad.mit.edu	37	1	21586831	21586831	+	Missense_Mutation	SNP	C	C	T	rs150644074		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:21586831C>T	ENST00000374893.6	-	5	622	c.548G>A	c.(547-549)cGt>cAt	p.R183H	ECE1_ENST00000415912.2_Missense_Mutation_p.R167H|ECE1_ENST00000357071.4_Missense_Mutation_p.R171H|ECE1_ENST00000436918.2_Missense_Mutation_p.R183H|ECE1_ENST00000264205.6_Missense_Mutation_p.R180H	NM_001397.2	NP_001388.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	183					bradykinin catabolic process (GO:0010815)|calcitonin catabolic process (GO:0010816)|ear development (GO:0043583)|embryonic digit morphogenesis (GO:0042733)|endothelin maturation (GO:0034959)|heart development (GO:0007507)|hormone catabolic process (GO:0042447)|peptide hormone processing (GO:0016486)|pharyngeal system development (GO:0060037)|positive regulation of receptor recycling (GO:0001921)|protein processing (GO:0016485)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|substance P catabolic process (GO:0010814)	early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endosome membrane (GO:0031302)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)|Weibel-Palade body (GO:0033093)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)	p.R183H(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		CATGCACGCACGGTAGTATAC	0.582																																					p.R167H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G500A	1						.	C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	333.0	294.0	307.0		512,500,539,548	2.0	0.7	1	dbSNP_134	307	0,8600		0,0,4300	no	missense,missense,missense,missense	ECE1	NM_001113347.1,NM_001113348.1,NM_001113349.1,NM_001397.2	29,29,29,29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	171/759,167/755,180/768,183/771	21586831	2,13004	2203	4300	6503	21459418	SO:0001583	missense	1889	exon5			D49471	CCDS215.1, CCDS44081.1, CCDS44082.1, CCDS44083.1	1p36.1	2008-02-05			ENSG00000117298	ENSG00000117298			3146	protein-coding gene	gene with protein product		600423		ECE		7805846, 7864876, 17592116	Standard	NM_001397		Approved		uc001bei.2	P42892	OTTHUMG00000002625	ENST00000374893.6:c.548G>A	1.37:g.21586831C>T	ENSP00000364028:p.Arg183His		21459418	NM_001113348	A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501	Missense_Mutation	SNP	ENST00000374893.6	37	CCDS215.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.905808	0.52333	4.54E-4	0.0	ENSG00000117298	ENST00000415912;ENST00000357071;ENST00000374893;ENST00000436918;ENST00000264205;ENST00000473505	T;T;T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94;-0.94;-0.94	5.34	2.05	0.26809	Peptidase M13 (1);	0.059111	0.64402	D	0.000002	T	0.54447	0.1859	L	0.34521	1.04	0.48135	D	0.999593	B;P;B;P;P	0.41498	0.314;0.681;0.075;0.631;0.752	B;B;B;B;B	0.34038	0.067;0.174;0.018;0.108;0.108	T	0.49698	-0.8912	10	0.44086	T	0.13	-2.0728	5.3718	0.16144	0.0:0.4686:0.0:0.5314	.	183;167;183;171;180	B4DKB2;Q2Z2K8;P42892;P42892-2;P42892-4	.;.;ECE1_HUMAN;.;.	H	167;171;183;183;180;69	ENSP00000405088:R167H;ENSP00000349581:R171H;ENSP00000364028:R183H;ENSP00000388439:R183H;ENSP00000264205:R180H;ENSP00000431856:R69H	ENSP00000264205:R180H	R	-	2	0	ECE1	21459418	0.317000	0.24589	0.690000	0.30148	0.743000	0.42351	0.708000	0.25719	0.638000	0.30545	0.313000	0.20887	CGT		0.582	ECE1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007470.2	NM_001397	
TMEM206	55248	broad.mit.edu	37	1	212558640	212558640	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:212558640C>T	ENST00000261455.4	-	4	608	c.471G>A	c.(469-471)acG>acA	p.T157T	TMEM206_ENST00000535273.1_Silent_p.T218T|TMEM206_ENST00000471937.1_5'UTR	NM_018252.2	NP_060722.2	Q9H813	TM206_HUMAN	transmembrane protein 206	157						cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.T157T(1)		breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		AGAAGGGGTCCGTGTAGTTGA	0.557																																					p.T218T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G654A	1						.						140.0	131.0	134.0					1																	212558640		2203	4300	6503	210625263	SO:0001819	synonymous_variant	55248	exon5			AK024066	CCDS1504.1, CCDS55687.1	1q32.3	2008-02-05	2008-01-17	2008-01-17	ENSG00000065600	ENSG00000065600			25593	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 75"""	C1orf75		12477932	Standard	NM_018252		Approved	FLJ10874	uc010pte.2	Q9H813	OTTHUMG00000036751	ENST00000261455.4:c.471G>A	1.37:g.212558640C>T			210625263	NM_001198862	B7Z4D6|Q6IA87|Q9NV85	Silent	SNP	ENST00000261455.4	37	CCDS1504.1																																																																																				0.557	TMEM206-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089306.1	NM_018252	
EPRS	2058	broad.mit.edu	37	1	220219703	220219703	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:220219703A>G	ENST00000366923.3	-	1	297	c.28T>C	c.(28-30)Tca>Cca	p.S10P		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	10					cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)	p.S10P(1)		breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	GGGTCTCCTGAATTCACGGTC	0.642																																					p.S10P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T28C	1						.						109.0	84.0	93.0					1																	220219703		2203	4300	6503	218286326	SO:0001583	missense	2058	exon1			X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.28T>C	1.37:g.220219703A>G	ENSP00000355890:p.Ser10Pro		218286326	NM_004446	A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	ENST00000366923.3	37	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	A	9.840	1.190770	0.21954	.	.	ENSG00000136628	ENST00000366923;ENST00000536921;ENST00000435048	T	0.06933	3.24	4.85	-9.7	0.00521	.	1.125600	0.06551	N	0.745049	T	0.03434	0.0099	N	0.12182	0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.40942	-0.9536	10	0.29301	T	0.29	0.0307	6.3061	0.21139	0.0961:0.5102:0.2323:0.1615	.	10;10	Q3KQZ8;P07814	.;SYEP_HUMAN	P	10	ENSP00000355890:S10P	ENSP00000355890:S10P	S	-	1	0	EPRS	218286326	0.000000	0.05858	0.002000	0.10522	0.664000	0.39144	-0.902000	0.04088	-2.104000	0.00843	0.460000	0.39030	TCA		0.642	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446	
CCDC185	164127	broad.mit.edu	37	1	223568323	223568323	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:223568323C>T	ENST00000366875.3	+	1	1609	c.1506C>T	c.(1504-1506)cgC>cgT	p.R502R		NM_152610.2	NP_689823.2	Q8N715	CC185_HUMAN		502								p.R502R(1)		breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		GGAAGATGCGCAAAAGAATTC	0.607																																					p.R502R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1506T	1						.						86.0	102.0	97.0					1																	223568323		2203	4300	6503	221634946	SO:0001819	synonymous_variant	164127	exon1																														ENST00000366875.3:c.1506C>T	1.37:g.223568323C>T			221634946	NM_152610	Q8N746|Q8NA93	Silent	SNP	ENST00000366875.3	37	CCDS1537.1																																																																																				0.607	C1orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092718.1		
TP53BP2	7159	broad.mit.edu	37	1	223971971	223971971	+	Missense_Mutation	SNP	G	G	A	rs201272472		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:223971971G>A	ENST00000343537.7	-	17	3500	c.3209C>T	c.(3208-3210)gCg>gTg	p.A1070V	TP53BP2_ENST00000391878.2_Missense_Mutation_p.A941V|TP53BP2_ENST00000391879.2_Missense_Mutation_p.A303V|TP53BP2_ENST00000498843.1_5'UTR	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	1064	Mediates interaction with APC2.|SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)	p.A941V(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		ATCCCAAAGCGCATAAATGAC	0.403													G|||	1	0.000199681	0.0	0.0	5008	,	,		20056	0.001		0.0	False		,,,				2504	0.0				p.A1070V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3209T	1						.	G	VAL/ALA,VAL/ALA	0,4406		0,0,2203	162.0	153.0	156.0		3209,2822	6.0	0.7	1		156	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	TP53BP2	NM_001031685.2,NM_005426.2	64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	1070/1135,941/1006	223971971	1,13005	2203	4300	6503	222038594	SO:0001583	missense	7159	exon17			U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	12000	protein-coding gene	gene with protein product		602143	"""tumor protein p53-binding protein, 2"""			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.3209C>T	1.37:g.223971971G>A	ENSP00000341957:p.Ala1070Val		222038594	NM_001031685	B4DG66|Q12892|Q86X75|Q96KQ3	Missense_Mutation	SNP	ENST00000343537.7	37	CCDS44319.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	18.44	3.623887	0.66901	0.0	1.16E-4	ENSG00000143514	ENST00000391878;ENST00000343537;ENST00000391879	T;T;T	0.80304	-1.36;-1.36;-1.36	5.97	5.97	0.96955	Src homology-3 domain (4);Spectrin alpha chain, SH3 domain (1);	0.210382	0.48286	D	0.000190	D	0.87581	0.6213	M	0.76328	2.33	0.43734	D	0.996228	D;D	0.71674	0.989;0.998	B;P	0.58620	0.432;0.842	D	0.88459	0.3054	10	0.87932	D	0	.	15.7056	0.77577	0.0:0.2385:0.7615:0.0	.	1070;1064	B4DG66;Q13625	.;ASPP2_HUMAN	V	941;1070;303	ENSP00000375750:A941V;ENSP00000341957:A1070V;ENSP00000375751:A303V	ENSP00000341957:A1070V	A	-	2	0	TP53BP2	222038594	0.996000	0.38824	0.748000	0.31131	0.984000	0.73092	2.305000	0.43664	2.833000	0.97629	0.585000	0.79938	GCG		0.403	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090985.3	NM_001031685, NM_005426	
ACBD3	64746	broad.mit.edu	37	1	226349269	226349269	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:226349269G>A	ENST00000366812.5	-	4	745	c.691C>T	c.(691-693)Cgg>Tgg	p.R231W	ACBD3_ENST00000464927.1_5'UTR	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	231	Arg-rich.|Glu-rich.				steroid biosynthetic process (GO:0006694)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)	p.R231W(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		tcttctatccgtctcctttcc	0.403																																					p.R231W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C691T	1						.						146.0	124.0	131.0					1																	226349269		2202	4300	6502	224415892	SO:0001583	missense	64746	exon4			AB043587	CCDS1551.1	1q41	2013-10-16	2010-04-30	2003-11-12	ENSG00000182827	ENSG00000182827		"""A-kinase anchor proteins"""	15453	protein-coding gene	gene with protein product	"""PBR- and PKA-associated protein 7"""	606809	"""golgi complex associated protein 1, 60kDa"", ""acyl-Coenzyme A binding domain containing 3"""	GOLPH1, GOCAP1		12692076, 20150326	Standard	NM_022735		Approved	GCP60, PAP7	uc001hpy.3	Q9H3P7	OTTHUMG00000037560	ENST00000366812.5:c.691C>T	1.37:g.226349269G>A	ENSP00000355777:p.Arg231Trp		224415892	NM_022735	B2RB29|Q5VTJ0|Q6P9F1|Q8IZC5|Q8N4D6|Q9H6U3	Missense_Mutation	SNP	ENST00000366812.5	37	CCDS1551.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.330651	0.81690	.	.	ENSG00000182827	ENST00000366812	T	0.55413	0.52	4.84	4.84	0.62591	.	0.388897	0.26507	N	0.023994	T	0.58566	0.2131	M	0.69823	2.125	0.44073	D	0.996822	D	0.69078	0.997	P	0.47603	0.551	T	0.66060	-0.6017	10	0.87932	D	0	-0.6771	14.1546	0.65410	0.0:0.0:1.0:0.0	.	231	Q9H3P7	GCP60_HUMAN	W	231	ENSP00000355777:R231W	ENSP00000355777:R231W	R	-	1	2	ACBD3	224415892	0.996000	0.38824	0.992000	0.48379	0.954000	0.61252	1.622000	0.36997	2.602000	0.87976	0.563000	0.77884	CGG		0.403	ACBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091528.1	NM_022735	
PRSS38	339501	broad.mit.edu	37	1	228003562	228003562	+	Missense_Mutation	SNP	G	G	A	rs537495711		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:228003562G>A	ENST00000366757.3	+	1	169	c.145G>A	c.(145-147)Gtg>Atg	p.V49M		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	49						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.V49M(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						AACTGGCAGCGTGGGTAGGCC	0.692													G|||	1	0.000199681	0.0	0.0	5008	,	,		13141	0.0		0.0	False		,,,				2504	0.001				p.V49M												.	.	2	Substitution - Missense(2)	large_intestine(1)|pancreas(1)	c.G145A	1						.						21.0	24.0	23.0					1																	228003562		2203	4300	6503	226070185	SO:0001583	missense	339501	exon1				CCDS1563.1	1q42.13	2010-05-07			ENSG00000185888	ENSG00000185888		"""Serine peptidases / Serine peptidases"""	29625	protein-coding gene	gene with protein product	"""marapsin 2"""					12838346	Standard	NM_183062		Approved	MPN2	uc001hrh.3	A1L453	OTTHUMG00000037701	ENST00000366757.3:c.145G>A	1.37:g.228003562G>A	ENSP00000355719:p.Val49Met		226070185	NM_183062	Q7RTY6	Missense_Mutation	SNP	ENST00000366757.3	37	CCDS1563.1	.	.	.	.	.	.	.	.	.	.	G	11.15	1.553722	0.27739	.	.	ENSG00000185888	ENST00000366757	T	0.60797	0.16	2.46	0.428	0.16499	.	1.837480	0.03470	N	0.213605	T	0.43433	0.1247	N	0.24115	0.695	0.09310	N	1	D	0.54772	0.968	B	0.42087	0.375	T	0.38564	-0.9655	10	0.54805	T	0.06	.	4.8295	0.13432	0.1384:0.4314:0.4301:0.0	.	49	A1L453	PRS38_HUMAN	M	49	ENSP00000355719:V49M	ENSP00000355719:V49M	V	+	1	0	PRSS38	226070185	0.685000	0.27652	0.003000	0.11579	0.032000	0.12392	1.637000	0.37155	0.125000	0.18397	-0.351000	0.07748	GTG		0.692	PRSS38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091981.1	NM_183062	
C1QC	714	broad.mit.edu	37	1	22974052	22974052	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:22974052G>A	ENST00000374639.3	+	3	632	c.514G>A	c.(514-516)Gcg>Acg	p.A172T	C1QC_ENST00000374640.4_Missense_Mutation_p.A172T|C1QC_ENST00000374637.1_Missense_Mutation_p.A172T	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	172	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.A172T(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TGTCTACCACGCGTCGCATAC	0.572																																					p.A172T	Ovarian(26;671 750 8290 29071 43278)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G514A	1						.						93.0	83.0	87.0					1																	22974052		2203	4300	6503	22846639	SO:0001583	missense	714	exon3			AK057792	CCDS227.1	1p36.11	2014-09-17	2006-02-09	2006-02-09	ENSG00000159189	ENSG00000159189		"""Complement system"""	1245	protein-coding gene	gene with protein product		120575	"""complement component 1, q subcomponent, gamma polypeptide"""	C1QG		1706597	Standard	NM_001114101		Approved		uc001bga.4	P02747	OTTHUMG00000002891	ENST00000374639.3:c.514G>A	1.37:g.22974052G>A	ENSP00000363770:p.Ala172Thr		22846639	NM_172369	Q7Z502|Q96DL2|Q96H05	Missense_Mutation	SNP	ENST00000374639.3	37	CCDS227.1	.	.	.	.	.	.	.	.	.	.	G	8.422	0.846555	0.16963	.	.	ENSG00000159189	ENST00000374640;ENST00000374639;ENST00000374637	T;T;T	0.75704	-0.96;-0.96;-0.96	4.59	2.0	0.26442	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.254436	0.39475	N	0.001350	T	0.51702	0.1690	N	0.11560	0.145	0.21445	N	0.999689	B	0.31125	0.309	B	0.34385	0.181	T	0.41627	-0.9498	10	0.34782	T	0.22	.	6.2154	0.20651	0.6141:0.0:0.3859:0.0	.	172	P02747	C1QC_HUMAN	T	172	ENSP00000363771:A172T;ENSP00000363770:A172T;ENSP00000363768:A172T	ENSP00000363768:A172T	A	+	1	0	C1QC	22846639	0.246000	0.23909	0.980000	0.43619	0.564000	0.35744	0.357000	0.20199	0.600000	0.29862	-0.459000	0.05422	GCG		0.572	C1QC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008083.1	NM_172369	
TRIM17	51127	broad.mit.edu	37	1	228601533	228601533	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:228601533G>A	ENST00000366697.2	-	2	1446	c.490C>T	c.(490-492)Cag>Tag	p.Q164*	TRIM17_ENST00000456946.2_Nonsense_Mutation_p.Q164*|TRIM17_ENST00000366698.2_Nonsense_Mutation_p.Q164*|TRIM17_ENST00000295033.3_Nonsense_Mutation_p.Q164*			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	164					protein autoubiquitination (GO:0051865)	intracellular (GO:0005622)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				TCCCTGGCCTGCAGATTCCCT	0.587																																					p.Q164X												.	.	0			c.C490T	1						.						143.0	108.0	120.0					1																	228601533		2203	4300	6503	226668156	SO:0001587	stop_gained	51127	exon3			AF156271	CCDS1571.1, CCDS44327.1	1q42	2013-01-09	2011-01-25	2001-11-30	ENSG00000162931	ENSG00000162931		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	13430	protein-coding gene	gene with protein product	"""ring finger protein 16"", ""RING finger protein terf"", ""testis RING finger protein"""	606123	"""tripartite motif-containing 17"""	RNF16		9792805, 10894938	Standard	NM_016102		Approved	terf, RBCC	uc001hsv.3	Q9Y577	OTTHUMG00000039974	ENST00000366697.2:c.490C>T	1.37:g.228601533G>A	ENSP00000355658:p.Gln164*		226668156	NM_016102	B4DVJ2|Q5VST8	Nonsense_Mutation	SNP	ENST00000366697.2	37	CCDS1571.1	.	.	.	.	.	.	.	.	.	.	G	40	8.182374	0.98693	.	.	ENSG00000162931	ENST00000366697;ENST00000366698;ENST00000295033;ENST00000456946;ENST00000479800;ENST00000355586	.	.	.	3.5	3.5	0.40072	.	0.228496	0.22564	N	0.058436	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	10.8288	0.46649	0.0:0.0:1.0:0.0	.	.	.	.	X	164;164;164;164;137;164	.	ENSP00000295033:Q164X	Q	-	1	0	TRIM17	226668156	0.685000	0.27652	0.822000	0.32727	0.294000	0.27393	2.185000	0.42584	2.260000	0.74910	0.561000	0.74099	CAG		0.587	TRIM17-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096439.2	NM_016102	
TTC13	79573	broad.mit.edu	37	1	231067555	231067555	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:231067555A>G	ENST00000366661.4	-	10	1059	c.1052T>C	c.(1051-1053)gTg>gCg	p.V351A	TTC13_ENST00000366662.4_Missense_Mutation_p.V298A|TTC13_ENST00000414259.1_Missense_Mutation_p.V298A	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	351								p.V351A(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		GAGGGTTTGCACATGATTTTG	0.428																																					p.V351A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1052C	1						.						119.0	120.0	120.0					1																	231067555		2203	4300	6503	229134178	SO:0001583	missense	79573	exon10				CCDS1588.1, CCDS44332.1, CCDS44332.2	1q42.2	2013-01-10			ENSG00000143643	ENSG00000143643		"""Tetratricopeptide (TTC) repeat domain containing"""	26204	protein-coding gene	gene with protein product							Standard	NM_024525		Approved	FLJ22584	uc001huf.4	Q8NBP0	OTTHUMG00000037788	ENST00000366661.4:c.1052T>C	1.37:g.231067555A>G	ENSP00000355621:p.Val351Ala		229134178	NM_024525	B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Missense_Mutation	SNP	ENST00000366661.4	37	CCDS1588.1	.	.	.	.	.	.	.	.	.	.	A	15.83	2.950012	0.53186	.	.	ENSG00000143643	ENST00000366661;ENST00000366662;ENST00000414259	T;T;T	0.34072	1.38;1.47;1.47	5.66	5.66	0.87406	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.056958	0.64402	D	0.000001	T	0.20210	0.0486	N	0.03050	-0.425	0.58432	D	0.999992	B;P;B;P	0.48407	0.334;0.91;0.112;0.482	B;P;B;B	0.47470	0.181;0.548;0.029;0.134	T	0.14090	-1.0485	10	0.02654	T	1	-26.3137	15.9009	0.79377	1.0:0.0:0.0:0.0	.	276;298;298;351	Q69YR0;E9PGV4;Q8NBP0-2;Q8NBP0	.;.;.;TTC13_HUMAN	A	351;298;298	ENSP00000355621:V351A;ENSP00000355622:V298A;ENSP00000416631:V298A	ENSP00000355621:V351A	V	-	2	0	TTC13	229134178	1.000000	0.71417	0.989000	0.46669	0.979000	0.70002	9.303000	0.96183	2.173000	0.68751	0.533000	0.62120	GTG		0.428	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092229.2	NM_024525	
LGALS8	3964	broad.mit.edu	37	1	236706318	236706318	+	Intron	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:236706318C>T	ENST00000366584.4	+	7	1115				RP11-385F5.4_ENST00000433131.1_RNA|LGALS8_ENST00000323938.6_Intron|LGALS8_ENST00000352231.2_Missense_Mutation_p.P218L|LGALS8_ENST00000416919.2_Missense_Mutation_p.P159L|LGALS8_ENST00000526589.1_Missense_Mutation_p.P218L|LGALS8_ENST00000526634.1_Intron|LGALS8_ENST00000341872.6_Intron|LGALS8_ENST00000525042.1_Missense_Mutation_p.P159L|LGALS8_ENST00000450372.2_Missense_Mutation_p.P218L|LGALS8_ENST00000527974.1_Missense_Mutation_p.P218L	NM_201544.2	NP_963838.1	O00214	LEG8_HUMAN	lectin, galactoside-binding, soluble, 8						plasma cell differentiation (GO:0002317)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)	p.P218L(1)		kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ACCAAAATACCACCTATGAAC	0.373																																					p.P218L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C653T	1						.						105.0	100.0	102.0					1																	236706318		2203	4300	6503	234772941	SO:0001627	intron_variant	3964	exon9			X91790	CCDS1611.1, CCDS1612.1	1q43	2011-08-04	2008-07-25		ENSG00000116977	ENSG00000116977		"""Lectins, galactoside-binding"""	6569	protein-coding gene	gene with protein product	"""galectin 8"""	606099				7852431, 8692978	Standard	NM_201545		Approved	PCTA-1	uc001hxy.2	O00214	OTTHUMG00000039953	ENST00000366584.4:c.549+231C>T	1.37:g.236706318C>T			234772941	NM_201545	O15215|Q5T3P5|Q5T3Q4|Q8TEV1|Q96B92|Q9BXC8|Q9H584|Q9H585|Q9UEZ6|Q9UP32|Q9UP33|Q9UP34	Missense_Mutation	SNP	ENST00000366584.4	37	CCDS1612.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.815712	0.00595	.	.	ENSG00000116977	ENST00000527974;ENST00000352231;ENST00000526589;ENST00000450372;ENST00000416919;ENST00000525042	T;T;T;T;T;T	0.04758	3.6;3.6;3.6;3.6;3.56;3.56	4.48	0.528	0.17089	.	0.723721	0.12022	N	0.506817	T	0.03178	0.0093	.	.	.	0.22468	N	0.999072	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.47222	-0.9134	9	0.21540	T	0.41	0.3938	7.7836	0.29078	0.0:0.2191:0.0:0.7809	.	159;218	F6V2D4;O00214-2	.;.	L	218;218;218;218;159;159	ENSP00000431398:P218L;ENSP00000309576:P218L;ENSP00000435460:P218L;ENSP00000408657:P218L;ENSP00000410843:P159L;ENSP00000431884:P159L	ENSP00000309576:P218L	P	+	2	0	LGALS8	234772941	0.973000	0.33851	0.992000	0.48379	0.205000	0.24178	0.048000	0.14078	0.080000	0.16959	-1.074000	0.02243	CCA		0.373	LGALS8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000096365.2	NM_006499	
HEATR1	55127	broad.mit.edu	37	1	236723049	236723049	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:236723049C>T	ENST00000366582.3	-	34	4849	c.4735G>A	c.(4735-4737)Gcg>Acg	p.A1579T	HEATR1_ENST00000366581.2_Missense_Mutation_p.A1498T	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1579					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)	p.A1579T(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CTAAGGAGCGCGCGCCAGAAC	0.433																																					p.A1579T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4735A	1						.						123.0	103.0	110.0					1																	236723049		2203	4300	6503	234789672	SO:0001583	missense	55127	exon34			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.4735G>A	1.37:g.236723049C>T	ENSP00000355541:p.Ala1579Thr		234789672	NM_018072	Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.864983	0.91511	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.65916	-0.18;-0.18	5.88	5.88	0.94601	Armadillo-like helical (1);Armadillo-type fold (1);	0.112150	0.64402	D	0.000014	T	0.66458	0.2791	M	0.62016	1.91	0.80722	D	1	D;D	0.58620	0.973;0.983	P;B	0.45794	0.493;0.32	T	0.65998	-0.6032	10	0.38643	T	0.18	.	19.8921	0.96933	0.0:1.0:0.0:0.0	.	1498;1579	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	T	1579;1498	ENSP00000355541:A1579T;ENSP00000355540:A1498T	ENSP00000355540:A1498T	A	-	1	0	HEATR1	234789672	1.000000	0.71417	0.529000	0.27951	0.567000	0.35839	7.217000	0.77982	2.805000	0.96524	0.551000	0.68910	GCG		0.433	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853	
RYR2	6262	broad.mit.edu	37	1	237948080	237948080	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:237948080C>T	ENST00000366574.2	+	90	13385	c.13068C>T	c.(13066-13068)gcC>gcT	p.A4356A	RYR2_ENST00000360064.6_Silent_p.A4362A|RYR2_ENST00000542537.1_Silent_p.A4340A|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4356					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.A4354A(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCCTGGAAGCCGCCCTGCCCT	0.532																																					p.A4356A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C13068T	1						.						53.0	53.0	53.0					1																	237948080		1914	4115	6029	236014703	SO:0001819	synonymous_variant	6262	exon90			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.13068C>T	1.37:g.237948080C>T			236014703	NM_001035	Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	CCDS55691.1																																																																																				0.532	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
WDR64	128025	broad.mit.edu	37	1	241875126	241875126	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:241875126C>A	ENST00000366552.2	+	8	1174	c.967C>A	c.(967-969)Cca>Aca	p.P323T	WDR64_ENST00000437684.2_Missense_Mutation_p.P323T	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	323								p.P43T(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			GTTTTCCATGCCAAGAGGAGC	0.368																																					p.P323T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C967A	1						.						126.0	117.0	120.0					1																	241875126		2203	4300	6503	239941749	SO:0001583	missense	128025	exon8			AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"""WD repeat domain containing"""	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.967C>A	1.37:g.241875126C>A	ENSP00000355510:p.Pro323Thr		239941749	NM_144625	B1ANT0|Q7Z573|Q96LY9	Missense_Mutation	SNP	ENST00000366552.2	37		.	.	.	.	.	.	.	.	.	.	C	12.44	1.937528	0.34189	.	.	ENSG00000162843	ENST00000366552;ENST00000437684;ENST00000414635	T;T;T	0.39406	2.2;1.08;4.96	4.86	4.86	0.63082	.	0.300803	0.28971	N	0.013552	T	0.60130	0.2245	M	0.71581	2.175	0.40151	D	0.976945	D	0.89917	1.0	D	0.91635	0.999	T	0.56074	-0.8039	10	0.19590	T	0.45	-13.8556	13.3977	0.60863	0.0:1.0:0.0:0.0	.	43	D1MPS4	.	T	323;323;94	ENSP00000355510:P323T;ENSP00000402446:P323T;ENSP00000406656:P94T	ENSP00000355510:P323T	P	+	1	0	WDR64	239941749	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.719000	0.54926	2.537000	0.85549	0.655000	0.94253	CCA		0.368	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144625	
NOC2L	26155	broad.mit.edu	37	1	883871	883871	+	Splice_Site	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:883871C>T	ENST00000327044.6	-	13	1605	c.1556G>A	c.(1555-1557)cGg>cAg	p.R519Q		NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	519					apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)	p.R519Q(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CAGCCTCACCCGGTACGCCTT	0.627																																					p.R519Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1556A	1						.						60.0	53.0	56.0					1																	883871		2203	4300	6503	873734	SO:0001630	splice_region_variant	26155	exon13			AL050019	CCDS3.1	1p36.33	2014-06-12			ENSG00000188976	ENSG00000188976			24517	protein-coding gene	gene with protein product	"""novel INHAT repressor"", ""protein phosphatase 1, regulatory subunit 12"""	610770					Standard	NM_015658		Approved	DKFZP564C186, NET7, NET15, NIR, PPP1R112	uc001abz.4	Q9Y3T9	OTTHUMG00000040720	ENST00000327044.6:c.1557+1G>A	1.37:g.883871C>T			873734	NM_015658	Q5SVA3|Q9BTN6	Missense_Mutation	SNP	ENST00000327044.6	37	CCDS3.1	.	.	.	.	.	.	.	.	.	.	c	12.58	1.979619	0.34942	.	.	ENSG00000188976	ENST00000327044	T	0.66460	-0.21	5.35	4.42	0.53409	Armadillo-type fold (1);	0.209896	0.41001	D	0.000961	T	0.47060	0.1425	N	0.04132	-0.27	0.54753	D	0.999989	B;B;B	0.28998	0.218;0.218;0.23	B;B;B	0.31547	0.058;0.058;0.132	T	0.50996	-0.8761	10	0.56958	D	0.05	-30.4817	14.2185	0.65809	0.1506:0.8494:0.0:0.0	.	519;519;286	B3KNC3;Q9Y3T9;Q9H9J5	.;NOC2L_HUMAN;.	Q	519	ENSP00000317992:R519Q	ENSP00000317992:R519Q	R	-	2	0	NOC2L	873734	1.000000	0.71417	1.000000	0.80357	0.111000	0.19643	2.236000	0.43052	1.207000	0.43291	0.549000	0.68633	CGG		0.627	NOC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097869.1	NM_015658	Missense_Mutation
PRDM16	63976	broad.mit.edu	37	1	3327972	3327972	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:3327972C>T	ENST00000270722.5	+	9	1260	c.1211C>T	c.(1210-1212)aCg>aTg	p.T404M	PRDM16_ENST00000378391.2_Missense_Mutation_p.T404M|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000442529.2_Missense_Mutation_p.T404M|PRDM16_ENST00000511072.1_Missense_Mutation_p.T405M|PRDM16_ENST00000378398.3_Missense_Mutation_p.T405M|PRDM16_ENST00000514189.1_Missense_Mutation_p.T405M|PRDM16_ENST00000441472.2_Missense_Mutation_p.T404M			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	404					brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|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)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)	p.T404M(1)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		AAGTCCTACACGCAGTTCTCC	0.547			T	EVI1	"""MDS, AML"""																																p.T404M			Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1211T	1						.						63.0	65.0	64.0					1																	3327972		2170	4288	6458	3317832	SO:0001583	missense	63976	exon9			AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.1211C>T	1.37:g.3327972C>T	ENSP00000270722:p.Thr404Met		3317832	NM_022114	A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	ENST00000270722.5	37	CCDS41236.2	.	.	.	.	.	.	.	.	.	.	C	24.9	4.584902	0.86748	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722;ENST00000512462;ENST00000408992;ENST00000509860	T;T;T;T;T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11;0.11;0.11;0.11;0.11	5.26	5.26	0.73747	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.52532	D	0.000072	T	0.73544	0.3600	L	0.56280	1.765	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.997;1.0	T	0.75958	-0.3134	10	0.87932	D	0	.	18.8495	0.92222	0.0:1.0:0.0:0.0	.	404;404;404;404	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	M	405;405;404;404;404;405;404;220;220;213	ENSP00000426975:T405M;ENSP00000367651:T405M;ENSP00000407968:T404M;ENSP00000405253:T404M;ENSP00000367643:T404M;ENSP00000421400:T405M;ENSP00000270722:T404M;ENSP00000422504:T220M;ENSP00000425796:T213M	ENSP00000270722:T404M	T	+	2	0	PRDM16	3317832	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.710000	0.84655	2.472000	0.83506	0.609000	0.83330	ACG		0.547	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114	
THAP3	90326	broad.mit.edu	37	1	6692919	6692921	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	AGA	AGA	AGA	-	AGA	AGA	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:6692919_6692921delAGA	ENST00000054650.4	+	6	660_662	c.502_504delAGA	c.(502-504)agadel	p.R169del	DNAJC11_ENST00000465508.1_5'Flank|THAP3_ENST00000377627.3_Intron|THAP3_ENST00000307896.6_In_Frame_Del_p.R168del	NM_001195753.1	NP_001182682.1	Q8WTV1	THAP3_HUMAN	THAP domain containing, apoptosis associated protein 3	169							DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R168delR(1)		breast(1)|cervix(1)|large_intestine(1)|prostate(1)	4	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		TGCAGGCCTGAGAAGGACCCCCA	0.557																																					p.167_167del												.	.	1	Deletion - In frame(1)	large_intestine(1)	c.499_501del	1						.																																			6615508	SO:0001651	inframe_deletion	90326	exon5			BC022081	CCDS86.1, CCDS55572.1, CCDS55573.1	1p36.1	2013-01-25			ENSG00000041988	ENSG00000041988		"""THAP (C2CH-type zinc finger) domain containing"""	20855	protein-coding gene	gene with protein product		612532				12575992	Standard	NM_138350		Approved		uc001aod.3	Q8WTV1	OTTHUMG00000001440	ENST00000054650.4:c.502_504delAGA	1.37:g.6692919_6692921delAGA	ENSP00000054650:p.Arg169del		6615506	NM_001195752	Q569K1|Q5TH66|Q5TH67|Q8N8T6|Q9BSC7|Q9Y3H2|Q9Y3H3	In_Frame_Del	DEL	ENST00000054650.4	37	CCDS55572.1																																																																																				0.557	THAP3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004203.1	NM_138350	
CA6	765	broad.mit.edu	37	1	9017223	9017223	+	Missense_Mutation	SNP	G	G	A	rs533616544		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:9017223G>A	ENST00000377443.2	+	3	291	c.287G>A	c.(286-288)cGc>cAc	p.R96H	CA6_ENST00000476083.1_Intron|CA6_ENST00000377442.2_Missense_Mutation_p.R36H|CA6_ENST00000377436.3_Missense_Mutation_p.R96H	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI	96					bicarbonate transport (GO:0015701)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.R96H(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)	Mafenide(DB06795)|Zonisamide(DB00909)	TCCACCATGCGCATGACAGTG	0.597																																					p.R96H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G287A	1						.						69.0	56.0	60.0					1																	9017223		2203	4300	6503	8939810	SO:0001583	missense	765	exon3			M57892	CCDS30578.1, CCDS57970.1, CCDS57971.1	1p36.2	2008-02-05			ENSG00000131686	ENSG00000131686	4.2.1.1	"""Carbonic anhydrases"""	1380	protein-coding gene	gene with protein product		114780				9691177	Standard	NM_001215		Approved		uc031plc.1	P23280	OTTHUMG00000001763	ENST00000377443.2:c.287G>A	1.37:g.9017223G>A	ENSP00000366662:p.Arg96His		8939810	NM_001215	E7EMQ1|Q5FBW3|Q5FC00|Q96QX8|Q9UF03	Missense_Mutation	SNP	ENST00000377443.2	37	CCDS30578.1	.	.	.	.	.	.	.	.	.	.	G	6.000	0.368373	0.11352	.	.	ENSG00000131686	ENST00000549778;ENST00000377443;ENST00000377436;ENST00000377442	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	5.22	-5.93	0.02254	Carbonic anhydrase, alpha-class, catalytic domain (4);	1.994860	0.01729	N	0.028774	T	0.45256	0.1333	N	0.25890	0.77	0.19775	N	0.999952	B;B	0.22414	0.069;0.04	B;B	0.11329	0.006;0.006	T	0.23297	-1.0192	10	0.13470	T	0.59	.	4.2418	0.10652	0.5963:0.1206:0.1611:0.1221	.	36;96	E7EMQ1;P23280	.;CAH6_HUMAN	H	64;96;96;36	ENSP00000447108:R64H;ENSP00000366662:R96H;ENSP00000366654:R96H;ENSP00000366661:R36H	ENSP00000366654:R96H	R	+	2	0	CA6	8939810	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	-1.654000	0.01984	-1.069000	0.03153	-1.141000	0.01876	CGC		0.597	CA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000004911.1		
CLSTN1	22883	broad.mit.edu	37	1	9804028	9804028	+	Missense_Mutation	SNP	C	C	T	rs369660230		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:9804028C>T	ENST00000377298.4	-	9	2062	c.1270G>A	c.(1270-1272)Ggg>Agg	p.G424R	CLSTN1_ENST00000361311.4_Missense_Mutation_p.G414R|CLSTN1_ENST00000377288.3_Missense_Mutation_p.G424R	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	424					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988)	p.G424R(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		AGCCGGCACCCGTGGACATAG	0.453																																					p.G414R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1240A	1						.	C	ARG/GLY,ARG/GLY	0,4406		0,0,2203	99.0	107.0	105.0		1270,1240	4.5	1.0	1		105	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	CLSTN1	NM_001009566.1,NM_014944.3	125,125	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging	424/982,414/972	9804028	2,13004	2203	4300	6503	9726615	SO:0001583	missense	22883	exon8			AB020718	CCDS105.1, CCDS30580.1	1p36.22	2011-07-01			ENSG00000171603	ENSG00000171603		"""Cadherins / Cadherin-related"""	17447	protein-coding gene	gene with protein product	"""cadherin-related family member 12"""	611321				10048485	Standard	XM_005263432		Approved	CSTN1, KIAA0911, CDHR12	uc001aqh.3	O94985	OTTHUMG00000001451	ENST00000377298.4:c.1270G>A	1.37:g.9804028C>T	ENSP00000366513:p.Gly424Arg		9726615	NM_014944	A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Missense_Mutation	SNP	ENST00000377298.4	37	CCDS30580.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528724	0.64860	0.0	2.33E-4	ENSG00000171603	ENST00000377298;ENST00000361311;ENST00000435891;ENST00000377288;ENST00000539822	T;T;T;T	0.02837	4.14;4.14;4.14;4.14	5.66	4.53	0.55603	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.092466	0.64402	D	0.000001	T	0.05456	0.0144	L	0.32530	0.975	0.43522	D	0.995794	D;D;D	0.67145	0.996;0.991;0.996	P;P;P	0.60789	0.879;0.737;0.879	T	0.17107	-1.0380	10	0.66056	D	0.02	-54.7565	4.2114	0.10514	0.0:0.6915:0.0:0.3085	.	424;414;424	B4E3Q1;O94985-2;O94985	.;.;CSTN1_HUMAN	R	424;414;244;424;424	ENSP00000366513:G424R;ENSP00000354997:G414R;ENSP00000401934:G244R;ENSP00000366502:G424R	ENSP00000354997:G414R	G	-	1	0	CLSTN1	9726615	1.000000	0.71417	0.998000	0.56505	0.196000	0.23810	6.171000	0.71926	2.826000	0.97356	0.655000	0.94253	GGG		0.453	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004239.1		
SZRD1	26099	broad.mit.edu	37	1	16717889	16717889	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:16717889delA	ENST00000401088.4	+	2	246	c.71delA	c.(70-72)gaafs	p.E24fs	SZRD1_ENST00000375590.3_Intron|SZRD1_ENST00000472461.1_3'UTR|SZRD1_ENST00000492354.1_Intron|SZRD1_ENST00000471507.1_Frame_Shift_Del_p.E24fs|SZRD1_ENST00000401089.3_Intron	NM_001114600.1|NM_001271869.1	NP_001108072.1|NP_001258798.1	Q7Z422	SZRD1_HUMAN	SUZ RNA binding domain containing 1	24								p.K26fs*2(1)									AGACGGTTGGAAAAAAAACTG	0.403																																					p.E24fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.71delA	1						.						140.0	128.0	132.0					1																	16717889		692	1591	2283	16590476	SO:0001589	frameshift_variant	26099	exon2			BC010631	CCDS44065.1, CCDS60000.1	1p36.13	2012-07-23	2012-07-23	2012-07-23	ENSG00000055070	ENSG00000055070			30232	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 144"""	C1orf144		12761501	Standard	NM_001114600		Approved	DKFZp566C0424	uc001aym.5	Q7Z422	OTTHUMG00000002217	ENST00000401088.4:c.71delA	1.37:g.16717889delA	ENSP00000383866:p.Glu24fs		16590476	NM_001114600	A8MXJ2|C9K0U0|Q7Z424|Q8IVM2|Q8TBV3|Q9Y403	Frame_Shift_Del	DEL	ENST00000401088.4	37	CCDS44065.1																																																																																				0.403	SZRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006283.2	NM_015609	
NIPAL3	57185	broad.mit.edu	37	1	24766677	24766677	+	Missense_Mutation	SNP	G	G	A	rs200419498		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:24766677G>A	ENST00000374399.4	+	3	477	c.109G>A	c.(109-111)Gcc>Acc	p.A37T	NIPAL3_ENST00000339255.2_Missense_Mutation_p.A37T|NIPAL3_ENST00000358028.4_Missense_Mutation_p.A37T|NIPAL3_ENST00000003912.3_5'UTR|NIPAL3_ENST00000428131.1_Missense_Mutation_p.A37T	NM_020448.4	NP_065181.1	Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	37						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)	p.A37T(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						CCTGATTGGCGCCCTCTTGGC	0.537																																					p.A37T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G109A	1						.						99.0	88.0	92.0					1																	24766677		2203	4300	6503	24639264	SO:0001583	missense	57185	exon3			BX640883	CCDS30631.1	1p36.12-p35.1	2009-03-24		2009-03-24	ENSG00000001461	ENSG00000001461			25233	protein-coding gene	gene with protein product				NPAL3		8619474, 9110174	Standard	NM_020448		Approved	DJ462O23.2	uc001bjh.3	Q6P499	OTTHUMG00000003299	ENST00000374399.4:c.109G>A	1.37:g.24766677G>A	ENSP00000363520:p.Ala37Thr		24639264	NM_020448	A2A298|Q6MZT9|Q9BVE6	Missense_Mutation	SNP	ENST00000374399.4	37	CCDS30631.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.740231	0.30865	.	.	ENSG00000001461	ENST00000374399;ENST00000358028;ENST00000339255;ENST00000428131	D;D;D;D	0.90004	-2.6;-2.6;-2.6;-2.6	4.99	4.99	0.66335	.	0.055178	0.85682	D	0.000000	T	0.74650	0.3744	N	0.08118	0	0.47819	D	0.999523	B;B;P	0.35383	0.089;0.438;0.498	B;B;B	0.25140	0.034;0.023;0.058	T	0.76942	-0.2772	10	0.42905	T	0.14	-22.0547	11.7277	0.51718	0.0812:0.0:0.9188:0.0	.	37;37;37	Q6P499-3;Q6P499;A6NN97	.;NPAL3_HUMAN;.	T	37	ENSP00000363520:A37T;ENSP00000350722:A37T;ENSP00000343549:A37T;ENSP00000406509:A37T	ENSP00000343549:A37T	A	+	1	0	NIPAL3	24639264	1.000000	0.71417	0.992000	0.48379	0.521000	0.34408	5.746000	0.68681	2.317000	0.78254	0.585000	0.79938	GCC		0.537	NIPAL3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276996.1	NM_020448	
NIPAL3	57185	broad.mit.edu	37	1	24785403	24785403	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:24785403T>A	ENST00000374399.4	+	9	1167	c.799T>A	c.(799-801)Tac>Aac	p.Y267N	NIPAL3_ENST00000339255.2_Missense_Mutation_p.Y267N|NIPAL3_ENST00000003912.3_Missense_Mutation_p.Y185N	NM_020448.4	NP_065181.1	Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	267						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)	p.Y267N(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						CTCACAGATGTACGACTCCTC	0.468																																					p.Y267N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T799A	1						.						220.0	180.0	193.0					1																	24785403		2203	4300	6503	24657990	SO:0001583	missense	57185	exon9			BX640883	CCDS30631.1	1p36.12-p35.1	2009-03-24		2009-03-24	ENSG00000001461	ENSG00000001461			25233	protein-coding gene	gene with protein product				NPAL3		8619474, 9110174	Standard	NM_020448		Approved	DJ462O23.2	uc001bjh.3	Q6P499	OTTHUMG00000003299	ENST00000374399.4:c.799T>A	1.37:g.24785403T>A	ENSP00000363520:p.Tyr267Asn		24657990	NM_020448	A2A298|Q6MZT9|Q9BVE6	Missense_Mutation	SNP	ENST00000374399.4	37	CCDS30631.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.6|23.6	4.439908|4.439908	0.83885|0.83885	.|.	.|.	ENSG00000001461|ENSG00000001461	ENST00000432012|ENST00000374399;ENST00000003912;ENST00000339255	.|D;D;D	.|0.91894	.|-2.93;-2.93;-2.93	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	.|0.162470	.|0.56097	.|N	.|0.000026	.|D	.|0.95850	.|0.8649	M|M	0.78801|0.78801	2.425|2.425	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.77004	.|0.985;0.989	.|D	.|0.96269	.|0.9197	.|10	.|0.87932	.|D	.|0	-18.1184|-18.1184	15.412|15.412	0.74933|0.74933	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|267;267	.|Q6P499;A6NN97	.|NPAL3_HUMAN;.	X|N	78|267;185;267	.|ENSP00000363520:Y267N;ENSP00000003912:Y185N;ENSP00000343549:Y267N	.|ENSP00000003912:Y185N	C|Y	+|+	3|1	2|0	NIPAL3|NIPAL3	24657990|24657990	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	3.535000|3.535000	0.53575|0.53575	2.238000|2.238000	0.73509|0.73509	0.460000|0.460000	0.39030|0.39030	TGT|TAC		0.468	NIPAL3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276996.1	NM_020448	
RCAN3	11123	broad.mit.edu	37	1	24861731	24861731	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:24861731G>A	ENST00000374395.4	+	5	1003	c.690G>A	c.(688-690)gcG>gcA	p.A230A	RCAN3_ENST00000436717.2_Silent_p.A220A|RCAN3_ENST00000538532.1_Silent_p.A172A|RCAN3_ENST00000374393.2_Missense_Mutation_p.R115H|RCAN3_ENST00000412742.2_Missense_Mutation_p.R173H	NM_001251978.1|NM_001251979.1|NM_001251984.1	NP_001238907.1|NP_001238908.1|NP_001238913.1	Q9UKA8	RCAN3_HUMAN	RCAN family member 3	230					anatomical structure morphogenesis (GO:0009653)|calcium-mediated signaling (GO:0019722)		RNA binding (GO:0003723)|troponin I binding (GO:0031013)	p.A230A(1)		central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)		CGACCGCAGCGTTGAATGAGC	0.587																																					p.A230A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G690A	1						.						52.0	51.0	51.0					1																	24861731		2203	4300	6503	24734318	SO:0001819	synonymous_variant	11123	exon5				CCDS254.1, CCDS57980.1, CCDS57981.1, CCDS57982.1, CCDS72730.1	1p35.3-p33	2008-02-05	2007-06-26	2007-06-26	ENSG00000117602	ENSG00000117602			3042	protein-coding gene	gene with protein product		605860	"""Down syndrome critical region gene 1-like 2"""	DSCR1L2		10756093	Standard	NM_001251984		Approved		uc001bjj.3	Q9UKA8	OTTHUMG00000003298	ENST00000374395.4:c.690G>A	1.37:g.24861731G>A			24734318	NM_013441	A4GU14|A4LA69|E3VWE2|E5L4P0|E5L4P7|E7ENV1|E7EWD8|G1FI66|G1FLF0|Q5ECL3|Q5TGC6|Q9NUC8|Q9UKA7	Missense_Mutation	SNP	ENST00000374395.4	37	CCDS254.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.501908	0.64298	.	.	ENSG00000117602	ENST00000412742;ENST00000374393	.	.	.	5.6	-11.2	0.00127	.	.	.	.	.	T	0.18800	0.0451	.	.	.	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.01281	0.0;0.0	T	0.08066	-1.0740	7	0.24483	T	0.36	-18.5656	6.189	0.20513	0.2229:0.2639:0.4316:0.0816	.	115;173	E7EWD8;E7ENV1	.;.	H	173;115	.	ENSP00000363514:R115H	R	+	2	0	RCAN3	24734318	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-2.833000	0.00742	-2.922000	0.00304	-1.326000	0.01283	CGT		0.587	RCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009176.2		
CNKSR1	10256	broad.mit.edu	37	1	26513954	26513954	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:26513954A>G	ENST00000374253.5	+	16	1495	c.1456A>G	c.(1456-1458)Acc>Gcc	p.T486A	CNKSR1_ENST00000361530.6_Missense_Mutation_p.T479A|CNKSR1_ENST00000531191.1_Missense_Mutation_p.T221A	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	486	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886)	protein binding, bridging (GO:0030674)	p.T479A(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		CGCTGCTGATACCCTGACAGA	0.562																																					p.T479A	NSCLC(180;1396 2109 28270 30756 34275)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1435G	1						.						169.0	143.0	152.0					1																	26513954		2203	4300	6503	26386541	SO:0001583	missense	10256	exon16			AF100153	CCDS276.1, CCDS72732.1	1p35.3	2013-01-10			ENSG00000142675	ENSG00000142675		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19700	protein-coding gene	gene with protein product		603272				9814705	Standard	NM_006314		Approved	CNK1, KSR, CNK	uc001blm.4	Q969H4	OTTHUMG00000007541	ENST00000374253.5:c.1456A>G	1.37:g.26513954A>G	ENSP00000363371:p.Thr486Ala		26386541	NM_006314	B1AMW9|O95381	Missense_Mutation	SNP	ENST00000374253.5	37		.	.	.	.	.	.	.	.	.	.	A	18.48	3.633553	0.67015	.	.	ENSG00000142675	ENST00000361530;ENST00000374253;ENST00000531191	T;T;T	0.14516	2.5;2.5;2.5	5.56	5.56	0.83823	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.275088	0.39341	N	0.001393	T	0.18964	0.0455	M	0.64997	1.995	0.45250	D	0.99825	P;P	0.50819	0.863;0.939	B;B	0.42495	0.389;0.389	T	0.01630	-1.1308	10	0.40728	T	0.16	-12.7965	15.7124	0.77641	1.0:0.0:0.0:0.0	.	486;479	Q969H4;Q53GM7	CNKR1_HUMAN;.	A	479;486;221	ENSP00000354609:T479A;ENSP00000363371:T486A;ENSP00000431817:T221A	ENSP00000354609:T479A	T	+	1	0	CNKSR1	26386541	1.000000	0.71417	0.852000	0.33557	0.908000	0.53690	5.821000	0.69257	2.108000	0.64289	0.533000	0.62120	ACC		0.562	CNKSR1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000089943.2	NM_006314	
MAP3K6	9064	broad.mit.edu	37	1	27691265	27691265	+	Splice_Site	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:27691265C>T	ENST00000493901.1	-	3	718	c.479G>A	c.(478-480)cGg>cAg	p.R160Q	MAP3K6_ENST00000357582.2_Splice_Site_p.R160Q|MAP3K6_ENST00000374040.3_Splice_Site_p.R160Q	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	160					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)	p.R160Q(1)		breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GCCACCTACCCGCAGGGCCTG	0.612																																					p.R160Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G479A	1						.						54.0	51.0	52.0					1																	27691265		2203	4300	6503	27563852	SO:0001630	splice_region_variant	9064	exon2			AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6858	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 2"""	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.480+1G>A	1.37:g.27691265C>T			27563852	NM_004672	A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Missense_Mutation	SNP	ENST00000493901.1	37	CCDS299.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.782307	0.90282	.	.	ENSG00000142733	ENST00000374040;ENST00000493901;ENST00000357582	T;T;T	0.10573	2.86;2.86;2.86	5.23	5.23	0.72850	.	.	.	.	.	T	0.08133	0.0203	N	0.14661	0.345	0.20489	N	0.999893	P;D	0.53745	0.953;0.962	B;B	0.39339	0.196;0.297	T	0.25676	-1.0125	9	0.62326	D	0.03	.	15.8292	0.78739	0.0:1.0:0.0:0.0	.	160;160	O95382-3;O95382	.;M3K6_HUMAN	Q	160	ENSP00000363152:R160Q;ENSP00000419591:R160Q;ENSP00000350195:R160Q	ENSP00000350195:R160Q	R	-	2	0	MAP3K6	27563852	0.984000	0.35163	0.981000	0.43875	0.989000	0.77384	2.177000	0.42509	2.736000	0.93811	0.655000	0.94253	CGG		0.612	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013469.2	NM_004672	Missense_Mutation
SRSF4	6429	broad.mit.edu	37	1	29475446	29475446	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	T	T	T	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:29475446T>C	ENST00000373795.4	-	6	1195	c.961A>G	c.(961-963)Agg>Ggg	p.R321G	RP11-242O24.3_ENST00000413004.1_lincRNA|SRSF4_ENST00000546138.1_3'UTR|SRSF4_ENST00000466448.1_5'UTR	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	321	Arg/Ser-rich (RS domain).			SRGRS -> EQGQE (in Ref. 1; AAA36649). {ECO:0000305}.	gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						tcctggctcctgcccctgctc	0.622																																					p.R321G												.	.	0			c.A961G	1						.						59.0	61.0	60.0					1																	29475446		2203	4300	6503	29348033	SO:0001583	missense	6429	exon6			BC002781	CCDS333.1	1p35.3	2013-02-12	2010-06-22	2010-06-22	ENSG00000116350	ENSG00000116350		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10786	protein-coding gene	gene with protein product	"""SR splicing factor 4"""	601940	"""splicing factor, arginine/serine-rich 4"""	SFRS4		8321209, 20516191	Standard	NM_005626		Approved	SRP75	uc001bro.3	Q08170	OTTHUMG00000003663	ENST00000373795.4:c.961A>G	1.37:g.29475446T>C	ENSP00000362900:p.Arg321Gly		29348033	NM_005626	Q5VXP1|Q9BUA4|Q9UEB5	Missense_Mutation	SNP	ENST00000373795.4	37	CCDS333.1	.	.	.	.	.	.	.	.	.	.	T	12.06	1.825081	0.32237	.	.	ENSG00000116350	ENST00000373795;ENST00000434636	T	0.16457	2.34	5.88	0.138	0.14793	.	0.751313	0.11853	N	0.523117	T	0.17874	0.0429	L	0.55481	1.735	0.80722	D	1	B	0.23735	0.09	B	0.24155	0.051	T	0.07462	-1.0771	10	0.72032	D	0.01	.	10.894	0.47012	0.0686:0.0:0.4589:0.4725	.	321	Q08170	SRSF4_HUMAN	G	321	ENSP00000362900:R321G	ENSP00000362900:R321G	R	-	1	2	SRSF4	29348033	0.924000	0.31332	0.983000	0.44433	0.932000	0.56968	1.093000	0.30939	-0.141000	0.11374	-0.313000	0.08912	AGG		0.622	SRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010392.1	NM_005626	
CCDC28B	79140	broad.mit.edu	37	1	32669924	32669924	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:32669924C>T	ENST00000373602.5	+	4	816	c.469C>T	c.(469-471)Cca>Tca	p.P157S	IQCC_ENST00000291358.6_5'Flank|CCDC28B_ENST00000421922.2_Missense_Mutation_p.P157S|CCDC28B_ENST00000483009.1_Intron|IQCC_ENST00000537469.1_5'Flank|RP4-622L5.7_ENST00000421616.1_RNA|RP4-622L5.7_ENST00000373604.4_RNA	NM_024296.3	NP_077272.2	Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B	157					cilium assembly (GO:0042384)	centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.P157S(1)		large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TGAGGGGCTGCCAGAGGAGCA	0.587																																					p.P157S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C469T	1						.						123.0	115.0	117.0					1																	32669924		2203	4300	6503	32442511	SO:0001583	missense	79140	exon4			BC022848	CCDS354.2, CCDS72749.1	1p36.11-p34.2	2008-02-05			ENSG00000160050	ENSG00000160050			28163	protein-coding gene	gene with protein product		610162				16327777	Standard	XM_006710892		Approved	MGC1203, RP4-622L5.5	uc001bul.1	Q9BUN5	OTTHUMG00000005738	ENST00000373602.5:c.469C>T	1.37:g.32669924C>T	ENSP00000362704:p.Pro157Ser		32442511	NM_024296	A8K789|Q8TBV8	Missense_Mutation	SNP	ENST00000373602.5	37	CCDS354.2	.	.	.	.	.	.	.	.	.	.	C	13.02	2.111052	0.37242	.	.	ENSG00000160050	ENST00000373602;ENST00000421922	T;T	0.50277	0.88;0.75	4.78	4.78	0.61160	.	0.204155	0.44688	D	0.000434	T	0.31918	0.0812	L	0.28344	0.845	0.36179	D	0.849265	B	0.21606	0.058	B	0.16289	0.015	T	0.30707	-0.9969	10	0.41790	T	0.15	-3.026	8.5119	0.33222	0.0:0.7631:0.1557:0.0812	.	157	Q9BUN5	CC28B_HUMAN	S	157	ENSP00000362704:P157S;ENSP00000413017:P157S	ENSP00000362704:P157S	P	+	1	0	CCDC28B	32442511	0.999000	0.42202	0.899000	0.35326	0.957000	0.61999	2.562000	0.45914	2.654000	0.90174	0.561000	0.74099	CCA		0.587	CCDC28B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015723.4	NM_024296	
ZNF362	149076	broad.mit.edu	37	1	33764593	33764593	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:33764593C>G	ENST00000539719.1	+	9	1379	c.1209C>G	c.(1207-1209)caC>caG	p.H403Q	ZNF362_ENST00000373428.5_Missense_Mutation_p.H403Q	NM_152493.2	NP_689706.2	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	403					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.H403Q(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TGAGCCATCACTCGCCCCAGA	0.627											OREG0013343	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.H403Q	Pancreas(162;1431 2676 35353 38425)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1209G	1						.						89.0	84.0	85.0					1																	33764593		2203	4300	6503	33537180	SO:0001583	missense	149076	exon9				CCDS377.1	1p35.1	2013-01-08			ENSG00000160094	ENSG00000160094		"""Zinc fingers, C2H2-type"""	18079	protein-coding gene	gene with protein product	"""rotund homolog (Drosophila)"""						Standard	NM_152493		Approved	FLJ25476, lin-29, RN	uc001bxc.1	Q5T0B9	OTTHUMG00000004124	ENST00000539719.1:c.1209C>G	1.37:g.33764593C>G	ENSP00000446335:p.His403Gln	842	33537180	NM_152493	Q8WYU4	Missense_Mutation	SNP	ENST00000539719.1	37	CCDS377.1	.	.	.	.	.	.	.	.	.	.	C	9.571	1.121103	0.20877	.	.	ENSG00000160094	ENST00000539719;ENST00000373428	T;T	0.06933	3.24;3.24	5.16	2.92	0.33932	.	0.670270	0.12819	N	0.436560	T	0.03477	0.0100	N	0.08118	0	0.39590	D	0.969573	B	0.06786	0.001	B	0.04013	0.001	T	0.26643	-1.0097	10	0.06099	T	0.92	-17.0356	7.2788	0.26300	0.0:0.7001:0.0:0.2999	.	403	Q5T0B9	ZN362_HUMAN	Q	403	ENSP00000446335:H403Q;ENSP00000362527:H403Q	ENSP00000362527:H403Q	H	+	3	2	ZNF362	33537180	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.120000	0.31271	1.180000	0.42898	0.561000	0.74099	CAC		0.627	ZNF362-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011857.2	NM_152493	
PHC2	1912	broad.mit.edu	37	1	33794564	33794564	+	Missense_Mutation	SNP	G	G	A	rs199838218		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:33794564G>A	ENST00000257118.5	-	13	2382	c.2329C>T	c.(2329-2331)Cgg>Tgg	p.R777W	PHC2_ENST00000373416.1_Missense_Mutation_p.R242W|PHC2_ENST00000373422.3_Missense_Mutation_p.R383W|PHC2_ENST00000431992.1_Missense_Mutation_p.R748W|PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000419414.2_Missense_Mutation_p.R778W|RP11-415J8.3_ENST00000457957.2_RNA|PHC2_ENST00000373418.3_Missense_Mutation_p.R242W	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	777					multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R777W(1)		autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				ACCAGGTCCCGCATATGCATG	0.587																																					p.R777W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2329T	1						.						88.0	86.0	87.0					1																	33794564		2203	4300	6503	33567151	SO:0001583	missense	1912	exon13			AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"""Sterile alpha motif (SAM) domain containing"""	3183	protein-coding gene	gene with protein product		602979	"""early development regulator 2 (homolog of polyhomeotic 2)"", ""polyhomeotic-like 2 (Drosophila)"""	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.2329C>T	1.37:g.33794564G>A	ENSP00000257118:p.Arg777Trp		33567151	NM_198040	A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Missense_Mutation	SNP	ENST00000257118.5	37	CCDS378.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.015366	0.75161	.	.	ENSG00000134686	ENST00000431992;ENST00000257118;ENST00000373422;ENST00000373418;ENST00000419414;ENST00000373416	T;T;T;T	0.51325	1.77;1.34;0.71;1.76	5.85	3.87	0.44632	.	0.000000	0.85682	D	0.000000	T	0.60983	0.2311	L	0.50333	1.59	0.53688	D	0.999979	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.993;0.993;0.993;0.999	T	0.63659	-0.6587	10	0.66056	D	0.02	-30.5532	12.1986	0.54311	0.0:0.0:0.5499:0.4501	.	778;749;777;192	A8KA40;B7ZLY0;Q8IXK0;Q8IXK0-3	.;.;PHC2_HUMAN;.	W	748;777;383;242;778;242	ENSP00000389436:R748W;ENSP00000257118:R777W;ENSP00000362521:R383W;ENSP00000391440:R778W	ENSP00000257118:R777W	R	-	1	2	PHC2	33567151	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.099000	0.50267	1.418000	0.47098	0.561000	0.74099	CGG		0.587	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000011895.1	NM_198040	
ZSCAN20	7579	broad.mit.edu	37	1	33959057	33959057	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:33959057G>A	ENST00000361328.3	+	7	1868	c.1715G>A	c.(1714-1716)cGg>cAg	p.R572Q		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	572					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				ATGAGGGCTCGGGCTGCAGTC	0.592																																					p.R572Q												.	.	0			c.G1715A	1						.						86.0	92.0	90.0					1																	33959057		2099	4229	6328	33731644	SO:0001583	missense	7579	exon7			X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"""-"", ""Zinc fingers, C2H2-type"""	13093	protein-coding gene	gene with protein product		611315	"""zinc finger protein 31 (KOX 29)"", ""zinc finger protein 31"""	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.1715G>A	1.37:g.33959057G>A	ENSP00000355053:p.Arg572Gln		33731644	NM_145238	A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Missense_Mutation	SNP	ENST00000361328.3	37	CCDS41300.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.143826	0.77888	.	.	ENSG00000121903	ENST00000326544;ENST00000361328;ENST00000401072	.	.	.	5.38	5.38	0.77491	.	0.000000	0.53938	D	0.000049	T	0.78748	0.4332	M	0.77103	2.36	0.37142	D	0.90177	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.991	T	0.81508	-0.0901	9	0.44086	T	0.13	-16.8657	14.9921	0.71396	0.0:0.0:1.0:0.0	.	571;572	P17040-3;P17040	.;ZSC20_HUMAN	Q	572;506;506	.	ENSP00000324450:R572Q	R	+	2	0	ZSCAN20	33731644	0.998000	0.40836	0.996000	0.52242	0.755000	0.42902	5.347000	0.65998	2.692000	0.91855	0.655000	0.94253	CGG		0.592	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	NM_145238	
GJB3	2707	broad.mit.edu	37	1	35250680	35250680	+	Missense_Mutation	SNP	G	G	A	rs369979083		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:35250680G>A	ENST00000373366.2	+	2	932	c.317G>A	c.(316-318)cGc>cAc	p.R106H	GJB3_ENST00000373362.3_Missense_Mutation_p.R106H|RP1-34M23.5_ENST00000542839.1_RNA	NM_024009.2	NP_076872.1	O75712	CXB3_HUMAN	gap junction protein, beta 3, 31kDa	106					cell communication (GO:0007154)|in utero embryonic development (GO:0001701)|placenta development (GO:0001890)|sensory perception of sound (GO:0007605)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	connexon complex (GO:0005922)|cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)	p.R106H(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				CGCCGGCACCGCCAGAAACAC	0.632													g|||	1	0.000199681	0.0008	0.0	5008	,	,		19660	0.0		0.0	False		,,,				2504	0.0				p.R106H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G317A	1						.	A	HIS/ARG,HIS/ARG	0,4406		0,0,2203	154.0	159.0	158.0		317,317	4.9	0.9	1		158	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GJB3	NM_001005752.1,NM_024009.2	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	106/271,106/271	35250680	1,13005	2203	4300	6503	35023267	SO:0001583	missense	2707	exon2			BC012918	CCDS384.1	1p34	2008-05-14	2007-01-16		ENSG00000188910	ENSG00000188910		"""Ion channels / Gap junction proteins (connexins)"""	4285	protein-coding gene	gene with protein product	"""connexin 31"""	603324	"""gap junction protein, beta 3, 31kD (connexin 31)"", ""gap junction protein, beta 3, 31kDa (connexin 31)"", ""erythrokeratodermia variabilis"""	DFNA2, EKV		9843210, 9704026	Standard	NM_024009		Approved	CX31	uc001bxy.3	O75712	OTTHUMG00000004051	ENST00000373366.2:c.317G>A	1.37:g.35250680G>A	ENSP00000362464:p.Arg106His		35023267	NM_024009	B2R790|Q2TAZ8	Missense_Mutation	SNP	ENST00000373366.2	37	CCDS384.1	.	.	.	.	.	.	.	.	.	.	g	12.65	2.001749	0.35320	0.0	1.16E-4	ENSG00000188910	ENST00000373366;ENST00000373362;ENST00000543647	D;D	0.99158	-5.5;-5.5	5.85	4.95	0.65309	Connexin, N-terminal (1);	0.676748	0.14791	N	0.298250	D	0.98448	0.9483	M	0.87381	2.88	0.46396	D	0.999025	B	0.29590	0.25	B	0.32149	0.141	D	0.99954	1.1593	10	0.21014	T	0.42	.	14.9085	0.70737	0.069:0.0:0.931:0.0	.	106	O75712	CXB3_HUMAN	H	106	ENSP00000362464:R106H;ENSP00000362460:R106H	ENSP00000362460:R106H	R	+	2	0	GJB3	35023267	0.970000	0.33590	0.874000	0.34290	0.116000	0.19942	1.843000	0.39259	1.499000	0.48617	-0.215000	0.12644	CGC		0.632	GJB3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011559.1	NM_024009	
NCDN	23154	broad.mit.edu	37	1	36030903	36030903	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:36030903G>A	ENST00000373243.2	+	7	2212	c.1829G>A	c.(1828-1830)cGg>cAg	p.R610Q	NCDN_ENST00000373253.3_Missense_Mutation_p.R593Q|NCDN_ENST00000356090.4_Missense_Mutation_p.R610Q	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	610					bone resorption (GO:0045453)|neuron projection development (GO:0031175)|regulation of neuronal synaptic plasticity (GO:0048168)	cytosol (GO:0005829)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)		p.R593Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CACGTGGCGCGGGCCACCCCG	0.642																																					p.R593Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1778A	1						.						96.0	101.0	99.0					1																	36030903		2203	4300	6503	35803490	SO:0001583	missense	23154	exon7			AB011179	CCDS392.1, CCDS30672.1	1p34.3	2008-02-05			ENSG00000020129	ENSG00000020129			17597	protein-coding gene	gene with protein product		608458				15007648	Standard	NM_014284		Approved	NCDN-1, NCDN-2	uc001bza.3	Q9UBB6	OTTHUMG00000059204	ENST00000373243.2:c.1829G>A	1.37:g.36030903G>A	ENSP00000362340:p.Arg610Gln		35803490	NM_001014841	D3DPR9|Q9UBY2|Q9Y4A6|Q9Y4D9	Missense_Mutation	SNP	ENST00000373243.2	37	CCDS392.1	.	.	.	.	.	.	.	.	.	.	G	8.874	0.949918	0.18431	.	.	ENSG00000020129	ENST00000373253;ENST00000356090;ENST00000373243;ENST00000397922	.	.	.	5.1	5.1	0.69264	.	0.680304	0.14520	N	0.314538	T	0.13670	0.0331	N	0.02011	-0.69	0.26641	N	0.972296	B	0.19331	0.035	B	0.10450	0.005	T	0.10941	-1.0608	9	0.24483	T	0.36	.	6.9003	0.24279	0.0975:0.1797:0.7228:0.0	.	610	Q9UBB6	NCDN_HUMAN	Q	593;610;610;35	.	ENSP00000348394:R610Q	R	+	2	0	NCDN	35803490	0.179000	0.23135	0.988000	0.46212	0.947000	0.59692	2.175000	0.42491	2.387000	0.81309	0.563000	0.77884	CGG		0.642	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131298.1	NM_014284	
MEAF6	64769	broad.mit.edu	37	1	37980326	37980326	+	Missense_Mutation	SNP	C	C	G	rs534470375	byFrequency	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:37980326C>G	ENST00000296214.5	-	1	49	c.22G>C	c.(22-24)Gcg>Ccg	p.A8P	MEAF6_ENST00000448519.2_Missense_Mutation_p.A8P|MEAF6_ENST00000373074.1_5'Flank|MEAF6_ENST00000373073.4_Missense_Mutation_p.A8P|MEAF6_ENST00000373075.2_Missense_Mutation_p.A8P|MEAF6_ENST00000475828.1_5'UTR	NM_001270875.1	NP_001257804.1	Q9HAF1	EAF6_HUMAN	MYST/Esa1-associated factor 6	8					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.A8P(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)	7						TGCGGCGGCGCCGCCTTGTTG	0.756																																					p.A8P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G22C	1						.						10.0	11.0	10.0					1																	37980326		2175	4269	6444	37752913	SO:0001583	missense	64769	exon1			BC016328	CCDS418.1, CCDS59195.1, CCDS59196.1	1p35.3-p33	2011-08-12	2009-07-13	2009-07-13	ENSG00000163875	ENSG00000163875			25674	protein-coding gene	gene with protein product	"""Esa1p-associated factor 6 homolog (S. cerevisiae)"", ""centromere protein 28"""	611001	"""chromosome 1 open reading frame 149"""	C1orf149		8619474, 9110174, 12963728, 14966270, 16387653	Standard	NM_022756		Approved	NY-SAR-91, FLJ11730, Eaf6, CENP-28	uc001cbe.2	Q9HAF1	OTTHUMG00000004223	ENST00000296214.5:c.22G>C	1.37:g.37980326C>G	ENSP00000296214:p.Ala8Pro		37752913	NM_022756	B1AK64|Q4F967|Q7Z311|Q86WE3	Missense_Mutation	SNP	ENST00000296214.5	37	CCDS59196.1	.	.	.	.	.	.	.	.	.	.	C	18.64	3.666704	0.67814	.	.	ENSG00000163875	ENST00000373075;ENST00000296214;ENST00000373073;ENST00000448519	.	.	.	4.15	4.15	0.48705	.	0.206601	0.41194	U	0.000926	T	0.26557	0.0649	N	0.14661	0.345	0.32996	D	0.525626	B;B;B	0.29716	0.255;0.021;0.118	B;B;B	0.26416	0.064;0.019;0.069	T	0.33317	-0.9873	9	0.31617	T	0.26	-7.0646	7.9195	0.29837	0.0:0.8843:0.0:0.1157	.	8;8;8	Q9HAF1-2;Q9HAF1;Q9HAF1-3	.;EAF6_HUMAN;.	P	8	.	ENSP00000296214:A8P	A	-	1	0	MEAF6	37752913	0.994000	0.37717	1.000000	0.80357	0.971000	0.66376	1.647000	0.37260	1.866000	0.54105	0.555000	0.69702	GCG		0.756	MEAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012161.1	NM_022756	
MACF1	23499	broad.mit.edu	37	1	39927582	39927582	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:39927582C>T	ENST00000372915.3	+	92	21335	c.21248C>T	c.(21247-21249)aCt>aTt	p.T7083I	MACF1_ENST00000545844.1_Missense_Mutation_p.T5125I|MACF1_ENST00000567887.1_Missense_Mutation_p.T7221I|MACF1_ENST00000539005.1_Missense_Mutation_p.T4995I|MACF1_ENST00000289893.4_Missense_Mutation_p.T5627I|MACF1_ENST00000361689.2_Missense_Mutation_p.T5125I|MACF1_ENST00000564288.1_Missense_Mutation_p.T7184I|MACF1_ENST00000317713.7_Missense_Mutation_p.T5125I			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7083	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.T5627I(1)|p.T5125I(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTAGAGATGACTGCTGTGGCT	0.418																																					p.T5125I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C15374T	1						.						178.0	171.0	173.0					1																	39927582		2203	4300	6503	39700169	SO:0001583	missense	23499	exon90			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.21248C>T	1.37:g.39927582C>T	ENSP00000362006:p.Thr7083Ile		39700169	NM_012090	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.	.	.	.	.	.	.	.	.	.	C	25.0	4.589787	0.86851	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893;ENST00000539218	T;T;T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56;-0.56;-0.56	6.17	5.26	0.73747	EF-hand-like domain (2);	0.000000	0.64402	D	0.000004	T	0.79627	0.4478	L	0.46614	1.455	0.80722	D	1	D;D;D;P	0.76494	0.999;0.999;0.998;0.697	D;D;D;B	0.85130	0.997;0.974;0.987;0.407	T	0.78758	-0.2079	9	.	.	.	.	15.6955	0.77494	0.0:0.9348:0.0:0.0652	.	7083;5125;5627;25	Q9UPN3;F8W8Q1;Q96PK2;B1ANQ7	MACF1_HUMAN;.;MACF4_HUMAN;.	I	5125;7083;5125;5125;4995;5627;2	ENSP00000439537:T5125I;ENSP00000362006:T7083I;ENSP00000354573:T5125I;ENSP00000313438:T5125I;ENSP00000444364:T4995I;ENSP00000289893:T5627I	.	T	+	2	0	MACF1	39700169	0.827000	0.29292	1.000000	0.80357	0.992000	0.81027	1.671000	0.37513	1.625000	0.50366	0.655000	0.94253	ACT		0.418	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044	
SZT2	23334	broad.mit.edu	37	1	43896002	43896002	+	Silent	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:43896002A>G	ENST00000562955.1	+	30	4251	c.4251A>G	c.(4249-4251)acA>acG	p.T1417T	SZT2_ENST00000372442.1_Silent_p.T575T	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1474					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)		p.T575T(2)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CTCGGGACACAGTAGACAGAA	0.498																																					p.T575T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A1725G	1						.						121.0	122.0	122.0					1																	43896002		2203	4300	6503	43668589	SO:0001819	synonymous_variant	23334	exon16			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.4251A>G	1.37:g.43896002A>G			43668589	NM_015284	A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Silent	SNP	ENST00000562955.1	37	CCDS30694.2																																																																																				0.498	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284	
KDM4A	9682	broad.mit.edu	37	1	44126083	44126083	+	Splice_Site	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:44126083G>A	ENST00000372396.3	+	4	563	c.429G>A	c.(427-429)aaG>aaA	p.K143K	KDM4A_ENST00000463151.1_3'UTR	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	143	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.K143K(1)		breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						tctaTGAAAAGGTGAGGCTCA	0.428																																					p.K143K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G429A	1						.						58.0	53.0	55.0					1																	44126083		2203	4299	6502	43898670	SO:0001630	splice_region_variant	9682	exon4			AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	22978	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 3A"", ""tudor domain containing 14A"""	609764	"""jumonji domain containing 2"", ""jumonji domain containing 2A"""	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.429+1G>A	1.37:g.44126083G>A			43898670	NM_014663	Q5VVB1	Silent	SNP	ENST00000372396.3	37	CCDS491.1																																																																																				0.428	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019960.1	NM_014663	Silent
PTCH2	8643	broad.mit.edu	37	1	45296607	45296607	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:45296607C>A	ENST00000372192.3	-	6	856	c.726G>T	c.(724-726)caG>caT	p.Q242H	PTCH2_ENST00000447098.2_Missense_Mutation_p.Q242H	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	242					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)	p.Q242H(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CCTGGCCCACCTGTGCCTTGT	0.642									Basal Cell Nevus syndrome																												p.Q242H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G726T	1						.						39.0	40.0	40.0					1																	45296607		2203	4300	6503	45069194	SO:0001583	missense	8643	exon6	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"""patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)"""			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.726G>T	1.37:g.45296607C>A	ENSP00000361266:p.Gln242His		45069194	NM_001166292	O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Missense_Mutation	SNP	ENST00000372192.3	37	CCDS516.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.107319	0.77096	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.92647	-3.07;-3.08	4.83	3.92	0.45320	.	0.000000	0.47852	D	0.000201	D	0.91341	0.7269	L	0.46157	1.445	0.45762	D	0.998657	D	0.60575	0.988	P	0.53912	0.737	D	0.90744	0.4652	10	0.66056	D	0.02	-17.868	8.8254	0.35052	0.0:0.8264:0.0:0.1736	.	242	Q9Y6C5	PTC2_HUMAN	H	242	ENSP00000389703:Q242H;ENSP00000361266:Q242H	ENSP00000361266:Q242H	Q	-	3	2	PTCH2	45069194	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.329000	0.43876	1.268000	0.44264	-0.126000	0.14955	CAG		0.642	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738	
FAAH	2166	broad.mit.edu	37	1	46871982	46871982	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:46871982T>G	ENST00000243167.8	+	7	977	c.893T>G	c.(892-894)cTg>cGg	p.L298R	FAAH_ENST00000493735.1_3'UTR	NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	298					fatty acid catabolic process (GO:0009062)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|organelle membrane (GO:0031090)	acylglycerol lipase activity (GO:0047372)|carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|fatty acid amide hydrolase activity (GO:0017064)	p.L298R(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	CGAGCCCTGCTGTGTGAGGAC	0.647											OREG0013458	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L298R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T893G	1						.						86.0	82.0	83.0					1																	46871982		2203	4300	6503	46644569	SO:0001583	missense	2166	exon7			U82535	CCDS535.1	1p35-p34	2008-02-05			ENSG00000117480	ENSG00000117480			3553	protein-coding gene	gene with protein product		602935				9122178	Standard	NM_001441		Approved	FAAH-1	uc001cpu.2	O00519	OTTHUMG00000007811	ENST00000243167.8:c.893T>G	1.37:g.46871982T>G	ENSP00000243167:p.Leu298Arg	942	46644569	NM_001441	D3DQ19|Q52M86|Q5TDF8	Missense_Mutation	SNP	ENST00000243167.8	37	CCDS535.1	.	.	.	.	.	.	.	.	.	.	T	18.35	3.604339	0.66445	.	.	ENSG00000117480	ENST00000243167	T	0.55930	0.49	5.15	5.15	0.70609	Amidase signature domain (2);	0.176602	0.38111	N	0.001808	T	0.75317	0.3833	M	0.88450	2.955	0.80722	D	1	P	0.47545	0.897	P	0.62298	0.9	T	0.80810	-0.1216	10	0.87932	D	0	-17.3122	14.9929	0.71401	0.0:0.0:0.0:1.0	.	298	O00519	FAAH1_HUMAN	R	298	ENSP00000243167:L298R	ENSP00000243167:L298R	L	+	2	0	FAAH	46644569	1.000000	0.71417	0.998000	0.56505	0.220000	0.24768	8.040000	0.89188	1.943000	0.56356	0.533000	0.62120	CTG		0.647	FAAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021443.1	NM_001441	
CYP4B1	1580	broad.mit.edu	37	1	47279985	47279985	+	Missense_Mutation	SNP	C	C	T	rs139611523	byFrequency	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:47279985C>T	ENST00000271153.4	+	7	913	c.877C>T	c.(877-879)Cgg>Tgg	p.R293W	CYP4B1_ENST00000371923.4_Missense_Mutation_p.R294W|CYP4B1_ENST00000371919.4_Missense_Mutation_p.R279W|CYP4B1_ENST00000452782.2_Missense_Mutation_p.R131W			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	293					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)	p.R293W(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	CCTGGGTGCCCGGGTGAGTAC	0.587																																					p.R294W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C880T	1						.						62.0	63.0	63.0					1																	47279985		2202	4300	6502	47052572	SO:0001583	missense	1580	exon7			BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"""Cytochrome P450s"""	2644	protein-coding gene	gene with protein product		124075	"""cytochrome P450, subfamily IVB, polypeptide 1"""				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.877C>T	1.37:g.47279985C>T	ENSP00000271153:p.Arg293Trp		47052572	NM_001099772	Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Missense_Mutation	SNP	ENST00000271153.4	37	CCDS542.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.232955	0.39498	.	.	ENSG00000142973	ENST00000371923;ENST00000271153;ENST00000371919;ENST00000452782;ENST00000468637	T;T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44;-0.44	5.7	-2.21	0.06973	.	0.906811	0.09583	N	0.782540	T	0.62134	0.2403	M	0.83774	2.66	0.09310	N	1	B;B;B;B	0.26147	0.073;0.124;0.118;0.143	B;B;B;B	0.27796	0.027;0.027;0.05;0.083	T	0.60219	-0.7306	10	0.66056	D	0.02	.	1.867	0.03201	0.4809:0.2047:0.0875:0.2269	.	131;279;294;293	E7EME6;Q8IZB0;P13584-2;P13584	.;.;.;CP4B1_HUMAN	W	294;293;279;131;130	ENSP00000360991:R294W;ENSP00000271153:R293W;ENSP00000360987:R279W;ENSP00000400413:R131W;ENSP00000437670:R130W	ENSP00000271153:R293W	R	+	1	2	CYP4B1	47052572	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.435000	0.21510	0.003000	0.14656	-0.230000	0.12252	CGG		0.587	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1	NM_000779	
SLC5A9	200010	broad.mit.edu	37	1	48688510	48688510	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:48688510C>T	ENST00000438567.2	+	1	154	c.102C>T	c.(100-102)caC>caT	p.H34H	SLC5A9_ENST00000420136.2_Silent_p.H27H|SLC5A9_ENST00000236495.5_Silent_p.H34H|SLC5A9_ENST00000533824.1_Silent_p.H34H	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	34					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.H27H(1)		breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						TTGGTCTGCACGCCTACGACA	0.592																																					p.H34H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C102T	1						.						161.0	114.0	130.0					1																	48688510		2203	4300	6503	48461097	SO:0001819	synonymous_variant	200010	exon1			BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834		"""Solute carriers"""	22146	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 9"""				Standard	NM_001011547		Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000438567.2:c.102C>T	1.37:g.48688510C>T			48461097	NM_001135181	B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	De_novo_Start_OutOfFrame	SNP	ENST00000438567.2	37	CCDS30709.2																																																																																				0.592	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022061.3	XM_117174	
BEND5	79656	broad.mit.edu	37	1	49208371	49208371	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:49208371C>T	ENST00000371833.3	-	4	904	c.818G>A	c.(817-819)aGt>aAt	p.S273N	AGBL4_ENST00000371838.1_Intron|AGBL4_ENST00000371839.1_Intron|BEND5_ENST00000476096.1_Intron	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	273						Golgi apparatus (GO:0005794)		p.S104N(1)		large_intestine(5)|lung(2)|skin(1)	8						TGCTTCCTCACTGAAAGTGCT	0.468																																					p.S273N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G818A	1						.						124.0	114.0	118.0					1																	49208371		2203	4300	6503	48980958	SO:0001583	missense	79656	exon4			BC007932	CCDS552.2	1p33	2012-11-22	2008-10-03	2008-10-03	ENSG00000162373	ENSG00000162373		"""BEN domain containing"""	25668	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 165"""	C1orf165		12477932	Standard	NM_024603		Approved	FLJ11588	uc001crx.4	Q7L4P6	OTTHUMG00000008153	ENST00000371833.3:c.818G>A	1.37:g.49208371C>T	ENSP00000360899:p.Ser273Asn		48980958	NM_024603	D3DQ27|Q96A62|Q9HAI3	Missense_Mutation	SNP	ENST00000371833.3	37	CCDS552.2	.	.	.	.	.	.	.	.	.	.	C	13.54	2.266587	0.40095	.	.	ENSG00000162373	ENST00000371833	.	.	.	5.45	5.45	0.79879	.	0.173576	0.64402	D	0.000007	T	0.34483	0.0899	N	0.08118	0	0.42137	D	0.991493	B	0.06786	0.001	B	0.04013	0.001	T	0.21930	-1.0231	8	.	.	.	-1.3834	11.8067	0.52158	0.0:0.9211:0.0:0.0789	.	273	Q7L4P6	BEND5_HUMAN	N	273	.	.	S	-	2	0	BEND5	48980958	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.926000	0.48892	2.838000	0.97847	0.591000	0.81541	AGT		0.468	BEND5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022323.1	NM_024603	
FAM151A	338094	broad.mit.edu	37	1	55076145	55076145	+	Missense_Mutation	SNP	C	C	T	rs373739034|rs201727345	byFrequency	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:55076145C>T	ENST00000302250.2	-	7	1184	c.1024G>A	c.(1024-1026)Gtg>Atg	p.V342M	ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Intron	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	342						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.V342M(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						AGCCACTCCACATTCAGACCG	0.582													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19290	0.0		0.0	False		,,,				2504	0.0				p.V342M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1024A	1						.						159.0	129.0	139.0					1																	55076145		2203	4296	6499	54848733	SO:0001583	missense	338094	exon7			AK091901	CCDS594.1	1p32.3	2008-02-05	2007-12-18	2007-12-18	ENSG00000162391	ENSG00000162391			25032	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 179"""	C1orf179		17273976	Standard	NM_176782		Approved	MGC27169	uc001cxn.3	Q8WW52	OTTHUMG00000009888	ENST00000302250.2:c.1024G>A	1.37:g.55076145C>T	ENSP00000306888:p.Val342Met		54848733	NM_176782	Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Missense_Mutation	SNP	ENST00000302250.2	37	CCDS594.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.566611	0.28003	.	.	ENSG00000162391	ENST00000302250	T	0.12569	2.67	3.68	2.74	0.32292	.	0.313645	0.24630	N	0.036899	T	0.19604	0.0471	L	0.36672	1.1	0.53005	D	0.999963	D	0.64830	0.994	P	0.58520	0.84	T	0.01256	-1.1404	10	0.87932	D	0	-12.653	8.3857	0.32499	0.2336:0.7664:0.0:0.0	.	342	Q8WW52	F151A_HUMAN	M	342	ENSP00000306888:V342M	ENSP00000306888:V342M	V	-	1	0	FAM151A	54848733	0.611000	0.26992	0.712000	0.30502	0.055000	0.15305	0.825000	0.27393	1.087000	0.41251	0.561000	0.74099	GTG		0.582	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027342.1	NM_176782	
BSND	7809	broad.mit.edu	37	1	55472757	55472757	+	Missense_Mutation	SNP	A	A	C	rs373712074		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:55472757A>C	ENST00000371265.4	+	3	614	c.360A>C	c.(358-360)aaA>aaC	p.K120N		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	barttin CLCNK-type chloride channel accessory beta subunit	120					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride channel activity (GO:0005254)|chloride channel regulator activity (GO:0017081)	p.K120N(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						TCCAGATGAAAGTCATGAGCT	0.622																																					p.K120N	Ovarian(191;1657 2078 22894 42033 48899)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A360C	1						.						62.0	60.0	61.0					1																	55472757		2203	4300	6503	55245345	SO:0001583	missense	7809	exon3			AY034632	CCDS602.1	1p32.3	2014-06-17	2014-06-17		ENSG00000162399	ENSG00000162399			16512	protein-coding gene	gene with protein product		606412	"""deafness, autosomal recessive 73"", ""Bartter syndrome, infantile, with sensorineural deafness (Barttin)"""	DFNB73		11687798, 11734858, 19646679	Standard	NM_057176		Approved	BART	uc001cye.3	Q8WZ55	OTTHUMG00000008112	ENST00000371265.4:c.360A>C	1.37:g.55472757A>C	ENSP00000360312:p.Lys120Asn		55245345	NM_057176	Q6NT28	Missense_Mutation	SNP	ENST00000371265.4	37	CCDS602.1	.	.	.	.	.	.	.	.	.	.	A	16.87	3.242711	0.58995	.	.	ENSG00000162399	ENST00000371265	T	0.74421	-0.84	3.89	1.92	0.25849	.	0.188967	0.34088	N	0.004273	T	0.79482	0.4453	M	0.68317	2.08	0.30384	N	0.781621	D	0.76494	0.999	D	0.83275	0.996	T	0.73382	-0.4000	10	0.66056	D	0.02	-22.7778	2.1728	0.03854	0.1139:0.1964:0.4882:0.2015	.	120	Q8WZ55	BSND_HUMAN	N	120	ENSP00000360312:K120N	ENSP00000360312:K120N	K	+	3	2	BSND	55245345	0.939000	0.31865	0.998000	0.56505	0.921000	0.55340	0.202000	0.17295	0.556000	0.29098	-0.436000	0.05848	AAA		0.622	BSND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022213.4	NM_057176	
HOOK1	51361	broad.mit.edu	37	1	60325946	60325946	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:60325946A>G	ENST00000371208.3	+	15	1735	c.1478A>G	c.(1477-1479)cAg>cGg	p.Q493R	HOOK1_ENST00000465876.1_3'UTR|HOOK1_ENST00000395561.2_Missense_Mutation_p.Q451R	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	493	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatid development (GO:0007286)	FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)	p.Q493R(1)		biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					GAGGAACTTCAGGAGCAGCTA	0.403																																					p.Q493R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1478G	1						.						135.0	142.0	140.0					1																	60325946		2203	4300	6503	60098534	SO:0001583	missense	51361	exon15			AF044923	CCDS612.1	1p32.1	2013-08-21	2013-08-21		ENSG00000134709	ENSG00000134709			19884	protein-coding gene	gene with protein product		607820	"""hook homolog 1 (Drosophila)"""			9927460	Standard	XM_005270922		Approved	HK1	uc001czo.3	Q9UJC3	OTTHUMG00000008990	ENST00000371208.3:c.1478A>G	1.37:g.60325946A>G	ENSP00000360252:p.Gln493Arg		60098534	NM_015888	A8K8E9|A8MU44|B4DX15|O60561|Q5TG44	Missense_Mutation	SNP	ENST00000371208.3	37	CCDS612.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.509179	0.85282	.	.	ENSG00000134709	ENST00000371208;ENST00000395561	T;T	0.20200	2.09;2.09	5.05	5.05	0.67936	.	0.113654	0.64402	D	0.000007	T	0.48259	0.1490	M	0.83384	2.64	0.58432	D	0.999995	D	0.76494	0.999	D	0.70016	0.967	T	0.48692	-0.9013	10	0.36615	T	0.2	.	15.2502	0.73539	1.0:0.0:0.0:0.0	.	493	Q9UJC3	HOOK1_HUMAN	R	493;451	ENSP00000360252:Q493R;ENSP00000378928:Q451R	ENSP00000360252:Q493R	Q	+	2	0	HOOK1	60098534	1.000000	0.71417	0.958000	0.39756	0.963000	0.63663	8.027000	0.88791	2.250000	0.74265	0.533000	0.62120	CAG		0.403	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024934.1	NM_015888	
IL12RB2	3595	broad.mit.edu	37	1	67861434	67861434	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:67861434C>T	ENST00000262345.1	+	16	2891	c.2251C>T	c.(2251-2253)Cca>Tca	p.P751S	IL12RB2_ENST00000371000.1_3'UTR|IL12RB2_ENST00000465396.1_3'UTR|IL12RB2_ENST00000544434.1_Missense_Mutation_p.P665S|IL12RB2_ENST00000541374.1_3'UTR	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	751	Poly-Pro.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)	p.P751S(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						CTCAAGCCCACCACCTCCAAG	0.557																																					p.P751S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2251T	1						.						102.0	94.0	96.0					1																	67861434		2203	4300	6503	67634022	SO:0001583	missense	3595	exon16			U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.2251C>T	1.37:g.67861434C>T	ENSP00000262345:p.Pro751Ser		67634022	NM_001559	B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Missense_Mutation	SNP	ENST00000262345.1	37	CCDS638.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.134888	0.56828	.	.	ENSG00000081985	ENST00000262345;ENST00000544434	T;T	0.38887	1.11;2.02	4.74	-1.36	0.09085	.	1.649610	0.02819	N	0.125324	T	0.28200	0.0696	L	0.57536	1.79	0.09310	N	1	D;B	0.57257	0.979;0.031	P;B	0.53401	0.725;0.009	T	0.09164	-1.0687	10	0.26408	T	0.33	4.2692	5.0219	0.14365	0.0:0.4042:0.1523:0.4435	.	665;751	F5H7L6;Q99665	.;I12R2_HUMAN	S	751;665	ENSP00000262345:P751S;ENSP00000442443:P665S	ENSP00000262345:P751S	P	+	1	0	IL12RB2	67634022	0.000000	0.05858	0.001000	0.08648	0.108000	0.19459	-0.205000	0.09411	-0.181000	0.10619	0.561000	0.74099	CCA		0.557	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2	NM_001559	
NEGR1	257194	broad.mit.edu	37	1	71873177	71873177	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:71873177C>T	ENST00000357731.5	-	7	1256	c.1017G>A	c.(1015-1017)ctG>ctA	p.L339L	ZRANB2-AS2_ENST00000590186.1_RNA|ZRANB2-AS2_ENST00000586006.1_RNA|NEGR1_ENST00000434200.1_Silent_p.L293L|ZRANB2-AS2_ENST00000608579.1_RNA|NEGR1_ENST00000306821.3_Silent_p.L211L|ZRANB2-AS2_ENST00000585415.1_RNA|ZRANB2-AS2_ENST00000585499.1_RNA|ZRANB2-AS2_ENST00000587306.1_RNA|ZRANB2-AS2_ENST00000587066.1_RNA|ZRANB2-AS2_ENST00000430605.1_RNA	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	339					feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.L339L(1)		endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		TGAAAGAGGACAGTGTCAACA	0.418																																					p.L339L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1017A	1						.						93.0	92.0	92.0					1																	71873177		2203	4299	6502	71645765	SO:0001819	synonymous_variant	257194	exon7			AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260		"""Immunoglobulin superfamily / I-set domain containing"""	17302	protein-coding gene	gene with protein product	"""a kindred of IgLON"", ""neurotractin"", ""IgLON family member 4"""	613173				10075727	Standard	NM_173808		Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.1017G>A	1.37:g.71873177C>T			71645765	NM_173808	Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Silent	SNP	ENST00000357731.5	37	CCDS661.1																																																																																				0.418	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026722.4	NM_173808	
LRRIQ3	127255	broad.mit.edu	37	1	74507071	74507071	+	Missense_Mutation	SNP	C	C	T	rs534493116	byFrequency	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:74507071C>T	ENST00000395089.1	-	6	1543	c.1544G>A	c.(1543-1545)cGt>cAt	p.R515H	LRRIQ3_ENST00000354431.4_Missense_Mutation_p.R515H			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	515								p.R515H(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						AACTAATAAACGCTCTGAAGC	0.363													C|||	2	0.000399361	0.0	0.0029	5008	,	,		15266	0.0		0.0	False		,,,				2504	0.0				p.R515H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1544A	1						.						102.0	100.0	101.0					1																	74507071		1797	4070	5867	74279659	SO:0001583	missense	127255	exon7			BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.1544G>A	1.37:g.74507071C>T	ENSP00000378524:p.Arg515His		74279659	NM_001105659	A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	ENST00000395089.1	37	CCDS41350.1	.	.	.	.	.	.	.	.	.	.	C	6.084	0.383714	0.11524	.	.	ENSG00000162620	ENST00000395089;ENST00000354431	T;T	0.10382	2.88;2.88	5.86	2.52	0.30459	.	.	.	.	.	T	0.02047	0.0064	L	0.29908	0.895	0.09310	N	1	B	0.34255	0.445	B	0.20184	0.028	T	0.44452	-0.9327	9	0.35671	T	0.21	.	8.4238	0.32716	0.0:0.7631:0.0:0.2369	.	515	A6PVS8	LRIQ3_HUMAN	H	515	ENSP00000378524:R515H;ENSP00000346414:R515H	ENSP00000346414:R515H	R	-	2	0	LRRIQ3	74279659	0.273000	0.24181	0.016000	0.15963	0.029000	0.11900	0.609000	0.24238	0.295000	0.22570	0.650000	0.86243	CGT		0.363	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258	
ERICH3	127254	broad.mit.edu	37	1	75107063	75107063	+	Silent	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:75107063A>G	ENST00000326665.5	-	5	614	c.396T>C	c.(394-396)cgT>cgC	p.R132R		NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		132								p.R132R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CACTATGGCCACGATTACTCT	0.423																																					p.R132R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T396C	1						.						152.0	133.0	140.0					1																	75107063		2203	4300	6503	74879651	SO:0001819	synonymous_variant	127254	exon5																														ENST00000326665.5:c.396T>C	1.37:g.75107063A>G			74879651	NM_001002912	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Silent	SNP	ENST00000326665.5	37	CCDS30755.1																																																																																				0.423	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1		
ELTD1	64123	broad.mit.edu	37	1	79403805	79403805	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:79403805G>T	ENST00000370742.3	-	5	619	c.556C>A	c.(556-558)Ctt>Att	p.L186I		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	186					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.L186I(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GAGTTAGAAAGGGTGTCCTTG	0.318																																					p.L186I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C556A	1						.						105.0	98.0	100.0					1																	79403805		1843	4089	5932	79176393	SO:0001583	missense	64123	exon5			AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.556C>A	1.37:g.79403805G>T	ENSP00000359778:p.Leu186Ile		79176393	NM_022159	B1AR71|Q5KU34	Missense_Mutation	SNP	ENST00000370742.3	37	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	G	3.310	-0.141083	0.06669	.	.	ENSG00000162618	ENST00000370742	T	0.09630	2.96	6.06	-0.806	0.10875	Domain of unknown function DUF3497 (1);	1.011940	0.07880	N	0.969371	T	0.02571	0.0078	L	0.40543	1.245	0.09310	N	1	B	0.30870	0.298	B	0.27076	0.076	T	0.45542	-0.9254	9	.	.	.	.	7.1377	0.25537	0.3456:0.1137:0.5406:0.0	.	186	Q9HBW9	ELTD1_HUMAN	I	186	ENSP00000359778:L186I	.	L	-	1	0	ELTD1	79176393	0.073000	0.21202	0.006000	0.13384	0.398000	0.30690	1.192000	0.32150	0.154000	0.19237	-0.142000	0.14014	CTT		0.318	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159	
LPAR3	23566	broad.mit.edu	37	1	85331322	85331322	+	Missense_Mutation	SNP	G	G	A	rs544005031		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:85331322G>A	ENST00000440886.1	-	1	520	c.482C>T	c.(481-483)gCg>gTg	p.A161V	LPAR3_ENST00000491034.1_Intron|LPAR3_ENST00000370611.3_Missense_Mutation_p.A161V			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	161					activation of MAPK activity (GO:0000187)|bleb assembly (GO:0032060)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|synaptic transmission (GO:0007268)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)	p.A161V(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						TGTGGGGACCGCCCCCATAAA	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		19914	0.0		0.0	False		,,,				2504	0.001				p.A161V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C482T	1						.						117.0	121.0	120.0					1																	85331322		2203	4300	6503	85103910	SO:0001583	missense	23566	exon2			AF127138	CCDS700.1	1p22.3	2012-08-08	2008-04-11	2008-04-11	ENSG00000171517	ENSG00000171517		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	14298	protein-coding gene	gene with protein product		605106	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 7"""	EDG7		10488122	Standard	NM_012152		Approved	LP-A3, Edg-7, RP4-678I3, HOFNH30, LPA3	uc009wcj.1	Q9UBY5	OTTHUMG00000009925	ENST00000440886.1:c.482C>T	1.37:g.85331322G>A	ENSP00000395389:p.Ala161Val		85103910	NM_012152	A0AVA3	Missense_Mutation	SNP	ENST00000440886.1	37	CCDS700.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056949	0.76074	.	.	ENSG00000171517	ENST00000440886;ENST00000370611	T;T	0.70869	-0.52;-0.52	5.32	5.32	0.75619	GPCR, rhodopsin-like superfamily (1);	0.099303	0.64402	D	0.000002	T	0.66771	0.2823	N	0.25957	0.775	0.47511	D	0.999447	D	0.89917	1.0	D	0.83275	0.996	T	0.61955	-0.6956	10	0.10377	T	0.69	.	19.0389	0.92991	0.0:0.0:1.0:0.0	.	161	Q9UBY5	LPAR3_HUMAN	V	161	ENSP00000395389:A161V;ENSP00000359643:A161V	ENSP00000359643:A161V	A	-	2	0	LPAR3	85103910	1.000000	0.71417	0.950000	0.38849	0.620000	0.37586	9.831000	0.99420	2.501000	0.84356	0.655000	0.94253	GCG		0.532	LPAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027467.1	NM_012152	
PKN2	5586	broad.mit.edu	37	1	89271672	89271672	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:89271672A>C	ENST00000370521.3	+	12	2134	c.1775A>C	c.(1774-1776)gAa>gCa	p.E592A	PKN2_ENST00000370505.3_Missense_Mutation_p.E435A|PKN2_ENST00000316005.7_3'UTR|PKN2_ENST00000370513.5_Missense_Mutation_p.E544A|PKN2_ENST00000544045.1_Missense_Mutation_p.E266A	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	592					apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.E592A(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		GAATCTTCTGAATTAAGAGTT	0.388																																					p.E592A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1775C	1						.						66.0	61.0	63.0					1																	89271672		1826	4075	5901	89044260	SO:0001583	missense	5586	exon12			U33052	CCDS714.1	1p22	2014-04-23	2004-07-01	2004-07-01	ENSG00000065243	ENSG00000065243			9406	protein-coding gene	gene with protein product	"""cardiolipin-activated protein kinase Pak2"""	602549	"""protein kinase C-like 2"""	PRKCL2		7988719, 7851406	Standard	NM_006256		Approved	PRK2, Pak-2, STK7	uc001dmn.3	Q16513	OTTHUMG00000010074	ENST00000370521.3:c.1775A>C	1.37:g.89271672A>C	ENSP00000359552:p.Glu592Ala		89044260	NM_006256	B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	Missense_Mutation	SNP	ENST00000370521.3	37	CCDS714.1	.	.	.	.	.	.	.	.	.	.	A	6.959	0.546767	0.13312	.	.	ENSG00000065243	ENST00000370521;ENST00000370505;ENST00000370513;ENST00000544045	T;T;T;T	0.35605	1.3;1.3;1.3;1.3	5.37	5.37	0.77165	.	0.153741	0.29172	U	0.012940	T	0.12732	0.0309	L	0.34521	1.04	0.40362	D	0.979258	B;B;B	0.27791	0.028;0.003;0.189	B;B;B	0.22386	0.024;0.005;0.039	T	0.05053	-1.0909	10	0.10111	T	0.7	.	15.3801	0.74648	1.0:0.0:0.0:0.0	.	576;544;592	B4DTP5;E7ESL7;Q16513	.;.;PKN2_HUMAN	A	592;435;544;266	ENSP00000359552:E592A;ENSP00000359536:E435A;ENSP00000359544:E544A;ENSP00000439643:E266A	ENSP00000359536:E435A	E	+	2	0	PKN2	89044260	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	3.913000	0.56394	2.034000	0.60081	0.482000	0.46254	GAA		0.388	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027828.3	NM_006256	
GBP1	2633	broad.mit.edu	37	1	89519089	89519089	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:89519089T>C	ENST00000370473.4	-	11	1947	c.1728A>G	c.(1726-1728)atA>atG	p.I576M	GBP1_ENST00000484970.1_5'UTR	NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	576					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)	cytosol (GO:0005829)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)	p.I576M(1)		endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		GGAGATCCTGTATCTCATTTT	0.403																																					p.I576M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1728G	1						.						280.0	258.0	266.0					1																	89519089		2203	4300	6503	89291677	SO:0001583	missense	2633	exon11			BC002666	CCDS718.1	1p22.2	2011-03-09	2011-03-09		ENSG00000117228	ENSG00000117228			4182	protein-coding gene	gene with protein product		600411	"""guanylate binding protein 1, interferon-inducible, 67kDa"""			7518790	Standard	NM_002053		Approved		uc001dmx.2	P32455	OTTHUMG00000010614	ENST00000370473.4:c.1728A>G	1.37:g.89519089T>C	ENSP00000359504:p.Ile576Met		89291677	NM_002053	D3DT26|Q5T8M1	Missense_Mutation	SNP	ENST00000370473.4	37	CCDS718.1	.	.	.	.	.	.	.	.	.	.	T	12.23	1.874892	0.33069	.	.	ENSG00000117228	ENST00000370473;ENST00000542693	T	0.03831	3.79	3.57	-1.05	0.10036	Guanylate-binding protein, C-terminal (3);	0.476974	0.20114	N	0.098945	T	0.01695	0.0054	L	0.52759	1.655	0.09310	N	1	B	0.33266	0.404	B	0.40199	0.322	T	0.44298	-0.9337	10	0.52906	T	0.07	.	0.5182	0.00607	0.3644:0.1181:0.1726:0.345	.	576	P32455	GBP1_HUMAN	M	576;539	ENSP00000359504:I576M	ENSP00000359504:I576M	I	-	3	3	GBP1	89291677	0.000000	0.05858	0.010000	0.14722	0.044000	0.14063	-3.406000	0.00482	-0.035000	0.13691	0.260000	0.18958	ATA		0.403	GBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029289.3	NM_002053	
LRRC8D	55144	broad.mit.edu	37	1	90399443	90399443	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:90399443C>T	ENST00000337338.5	+	3	1223	c.816C>T	c.(814-816)agC>agT	p.S272S	LRRC8D_ENST00000394593.3_Silent_p.S272S	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	272					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.S272S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		AAGTTCCCAGCATGACAATCC	0.458																																					p.S272S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C816T	1						.						40.0	40.0	40.0					1																	90399443		2203	4300	6503	90172031	SO:0001819	synonymous_variant	55144	exon3			AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"""leucine rich repeat containing 5"""	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.816C>T	1.37:g.90399443C>T			90172031	NM_001134479	D3DT29|Q6UWB2|Q9NVW3	Silent	SNP	ENST00000337338.5	37	CCDS726.1																																																																																				0.458	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029203.2	NM_018103	
ZNF326	284695	broad.mit.edu	37	1	90493191	90493191	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:90493191G>T	ENST00000340281.4	+	12	1823	c.1680G>T	c.(1678-1680)gaG>gaT	p.E560D	ZNF326_ENST00000455342.2_Missense_Mutation_p.E354D|ZNF326_ENST00000370447.3_Missense_Mutation_p.E471D	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	560	Glu-rich.				mRNA processing (GO:0006397)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, elongation (GO:0032784)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	DBIRD complex (GO:0044609)|nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		aggaagtagaggaattagagg	0.453																																					p.E560D												.	.	0			c.G1680T	1						.						48.0	51.0	50.0					1																	90493191		2203	4300	6503	90265779	SO:0001583	missense	284695	exon12			BC013102	CCDS727.1, CCDS728.1	1p22	2012-04-19			ENSG00000162664	ENSG00000162664		"""Zinc fingers, C2H2-type"""	14104	protein-coding gene	gene with protein product	"""ZNF-protein interacting with nuclear mRNPs and DBC1"""	614601				22446626	Standard	NM_182976		Approved	Zfp326, ZAN75, FLJ20403, ZIRD	uc001dnq.2	Q5BKZ1	OTTHUMG00000010675	ENST00000340281.4:c.1680G>T	1.37:g.90493191G>T	ENSP00000340796:p.Glu560Asp		90265779	NM_182976	A8MYX1|B4DLN0|B4E179|Q5VW93|Q5VW94|Q5VW96|Q5VW97|Q6NSA2|Q7Z638|Q7Z6C2	Missense_Mutation	SNP	ENST00000340281.4	37	CCDS727.1	.	.	.	.	.	.	.	.	.	.	G	9.386	1.074181	0.20227	.	.	ENSG00000162664	ENST00000394590;ENST00000340281;ENST00000370447;ENST00000455342	T;T;T	0.48522	0.82;0.81;0.81	3.17	2.22	0.28083	.	1.989530	0.02848	N	0.128716	T	0.12774	0.0310	N	0.08118	0	0.09310	N	1	B;B	0.16166	0.016;0.016	B;B	0.10450	0.005;0.003	T	0.14587	-1.0467	10	0.49607	T	0.09	.	7.6467	0.28325	0.0:0.0:0.747:0.253	.	560;560	A8MYX1;Q5BKZ1	.;ZN326_HUMAN	D	560;560;471;354	ENSP00000340796:E560D;ENSP00000359476:E471D;ENSP00000403470:E354D	ENSP00000340796:E560D	E	+	3	2	ZNF326	90265779	0.074000	0.21230	0.005000	0.12908	0.016000	0.09150	0.286000	0.18902	0.900000	0.36469	0.477000	0.44152	GAG		0.453	ZNF326-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029428.2	NM_181781	
HFM1	164045	broad.mit.edu	37	1	91846475	91846475	+	Silent	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:91846475A>G	ENST00000370425.3	-	7	965	c.867T>C	c.(865-867)ttT>ttC	p.F289F	HFM1_ENST00000370424.3_5'UTR|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	289					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.F289F(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTACATCATCAAAGGCCTTGG	0.294																																					p.F289F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T867C	1						.						51.0	60.0	57.0					1																	91846475		2193	4279	6472	91619063	SO:0001819	synonymous_variant	164045	exon7			AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.867T>C	1.37:g.91846475A>G			91619063	NM_001017975	B1B0B6|Q8N9Q0	Silent	SNP	ENST00000370425.3	37	CCDS30769.2																																																																																				0.294	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975	
BCAR3	8412	broad.mit.edu	37	1	94054761	94054761	+	Silent	SNP	G	G	A	rs369073690		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:94054761G>A	ENST00000370244.1	-	7	990	c.702C>T	c.(700-702)taC>taT	p.Y234Y	BCAR3_ENST00000260502.6_Silent_p.Y234Y|BCAR3_ENST00000370247.3_Silent_p.Y143Y|BCAR3_ENST00000370243.1_Silent_p.Y234Y|RP5-1033H22.2_ENST00000431770.1_RNA	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	234	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)	p.Y234Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		GGTTGCCCACGTAGCAGCGCA	0.632																																					p.Y234Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C702T	1						.	G		0,4406		0,0,2203	30.0	30.0	30.0		702	-2.6	1.0	1		30	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BCAR3	NM_003567.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		234/826	94054761	1,13005	2203	4300	6503	93827349	SO:0001819	synonymous_variant	8412	exon5			U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"""SH2 domain containing"""	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.702C>T	1.37:g.94054761G>A			93827349	NM_003567	D3DT43|Q5TEW3|Q6UW40|Q9BR50	Silent	SNP	ENST00000370244.1	37	CCDS745.1																																																																																				0.632	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028420.1		
ABCD3	5825	broad.mit.edu	37	1	94972104	94972104	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:94972104T>C	ENST00000370214.4	+	21	1775	c.1751T>C	c.(1750-1752)tTa>tCa	p.L584S	ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000454898.2_Missense_Mutation_p.L608S|ABCD3_ENST00000536817.1_Missense_Mutation_p.L511S|ABCD3_ENST00000394233.2_Missense_Mutation_p.L474S	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	584	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)	p.L584S(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		ATGGCAAGATTATTTTATCAT	0.343																																					p.L584S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1751C	1						.						105.0	102.0	103.0					1																	94972104		2203	4300	6503	94744692	SO:0001583	missense	5825	exon21			M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"""ATP binding cassette transporters / subfamily D"""	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.1751T>C	1.37:g.94972104T>C	ENSP00000359233:p.Leu584Ser		94744692	NM_002858	D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Missense_Mutation	SNP	ENST00000370214.4	37	CCDS749.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.450475	0.84101	.	.	ENSG00000117528	ENST00000394233;ENST00000454898;ENST00000536817;ENST00000370214	D;D;D;D	0.99854	-7.19;-7.19;-7.19;-7.19	5.56	5.56	0.83823	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.64402	D	0.000001	D	0.99694	0.9884	L	0.41573	1.285	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.997	D	0.96884	0.9648	10	0.87932	D	0	-9.5942	16.0154	0.80434	0.0:0.0:0.0:1.0	.	608;474;584	E7EUE1;P28288-2;P28288	.;.;ABCD3_HUMAN	S	474;608;511;584	ENSP00000377780:L474S;ENSP00000403357:L608S;ENSP00000440692:L511S;ENSP00000359233:L584S	ENSP00000359233:L584S	L	+	2	0	ABCD3	94744692	1.000000	0.71417	0.994000	0.49952	0.903000	0.53119	7.997000	0.88414	2.244000	0.73946	0.477000	0.44152	TTA		0.343	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029597.1	NM_002858	
PALMD	54873	broad.mit.edu	37	1	100155164	100155166	+	In_Frame_Del	DEL	GAG	GAG	-	rs199815412|rs149982562		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	GAG	GAG	GAG	-	GAG	GAG	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:100155164_100155166delGAG	ENST00000263174.4	+	7	1723_1725	c.1348_1350delGAG	c.(1348-1350)gagdel	p.E453del	PALMD_ENST00000605497.1_In_Frame_Del_p.E453del	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	453	Poly-Glu.				regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)		p.E450delE(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		GATTGATGATGAGGAGGAGGAGG	0.488																																					p.450_450del												.	.	1	Deletion - In frame(1)	large_intestine(1)	c.1348_1350del	1						.																																			99927754	SO:0001651	inframe_deletion	54873	exon7			AJ312214	CCDS758.1	1p22-p21	2008-07-18			ENSG00000099260	ENSG00000099260			15846	protein-coding gene	gene with protein product		610182		C1orf11		11478809	Standard	NM_017734		Approved	FLJ20271, PALML	uc001dsg.3	Q9NP74	OTTHUMG00000010764	ENST00000263174.4:c.1348_1350delGAG	1.37:g.100155173_100155175delGAG	ENSP00000263174:p.Glu453del		99927752	NM_017734	Q9H7E6|Q9NPM5|Q9NPM6|Q9NPS0	In_Frame_Del	DEL	ENST00000263174.4	37	CCDS758.1																																																																																				0.488	PALMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029672.1	NM_017734	
SPAG17	200162	broad.mit.edu	37	1	118642238	118642240	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	GAA	GAA	GAA	-	GAA	GAA	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:118642238_118642240delGAA	ENST00000336338.5	-	6	883_885	c.818_820delTTC	c.(817-822)cttcag>cag	p.L273del		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	273						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.L273delL(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CCTTCTGACTGAAGAAGAACTTC	0.399																																					p.273_274del												.	.	1	Deletion - In frame(1)	large_intestine(1)	c.818_820del	1						.																																			118443763	SO:0001651	inframe_deletion	200162	exon6				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.818_820delTTC	1.37:g.118642244_118642246delGAA	ENSP00000337804:p.Leu273del		118443761	NM_206996	Q8NAZ1|Q9NT21	In_Frame_Del	DEL	ENST00000336338.5	37	CCDS899.1																																																																																				0.399	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996	
NAV1	89796	broad.mit.edu	37	1	201772828	201772829	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	AA	AA	AA	-	AA	AA	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:201772828_201772829delAA	ENST00000367296.4	+	16	4045_4046	c.3625_3626delAA	c.(3625-3627)aaafs	p.K1211fs	NAV1_ENST00000367297.4_Frame_Shift_Del_p.K1203fs|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000295624.6_Frame_Shift_Del_p.K1211fs|NAV1_ENST00000367300.3_Frame_Shift_Del_p.K1154fs|NAV1_ENST00000367295.1_Frame_Shift_Del_p.K820fs|NAV1_ENST00000367302.1_Frame_Shift_Del_p.K1167fs	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1211					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.K1211fs*65(1)		breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GAAAAAGAAGAAAAAAAAGAGT	0.49																																					p.818_818del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2452_2453del	1						.																																			200039452	SO:0001589	frameshift_variant	89796	exon14			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.3625_3626delAA	1.37:g.201772834_201772835delAA	ENSP00000356265:p.Lys1211fs		200039451	NM_001167738	A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Frame_Shift_Del	DEL	ENST00000367296.4	37	CCDS1414.2																																																																																				0.490	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443	
PLD5	200150	broad.mit.edu	37	1	242383405	242383405	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr1:242383405G>A	ENST00000536534.2	-	5	861	c.620C>T	c.(619-621)aCg>aTg	p.T207M	PLD5_ENST00000427495.1_Missense_Mutation_p.T145M|PLD5_ENST00000442594.2_Missense_Mutation_p.T115M			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	207						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)	p.T115M(3)|p.T207M(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			GTTCATGTACGTCACCTCGGC	0.557																																					p.T145M												.	.	4	Substitution - Missense(4)	lung(2)|ovary(1)|large_intestine(1)	c.C434T	1						.						131.0	118.0	123.0					1																	242383405		2203	4300	6503	240450028	SO:0001583	missense	200150	exon5			AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.620C>T	1.37:g.242383405G>A	ENSP00000440896:p.Thr207Met		240450028	NM_001195811	A1KXV0|B7Z324|Q494U9|Q8NB22	Missense_Mutation	SNP	ENST00000536534.2	37	CCDS1621.2	.	.	.	.	.	.	.	.	.	.	G	13.40	2.226328	0.39300	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534	T;T;T	0.13778	2.56;2.56;2.56	5.52	4.6	0.57074	.	0.238118	0.43747	D	0.000527	T	0.07548	0.0190	N	0.17474	0.49	0.33978	D	0.647606	B;B;B	0.33694	0.421;0.297;0.421	B;B;B	0.21360	0.034;0.015;0.023	T	0.14420	-1.0473	10	0.54805	T	0.06	-20.8238	10.7734	0.46336	0.0909:0.0:0.9091:0.0	.	115;207;145	Q8N7P1-2;Q8N7P1;Q8N7P1-4	.;PLD5_HUMAN;.	M	145;115;207	ENSP00000401285:T145M;ENSP00000414188:T115M;ENSP00000440896:T207M	ENSP00000401285:T145M	T	-	2	0	PLD5	240450028	0.983000	0.35010	0.999000	0.59377	0.995000	0.86356	1.828000	0.39111	2.591000	0.87537	0.655000	0.94253	ACG		0.557	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	NM_152666	
JAG1	182	broad.mit.edu	37	20	10625852	10625852	+	Silent	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr20:10625852A>G	ENST00000254958.5	-	17	2681	c.2166T>C	c.(2164-2166)gaT>gaC	p.D722D	JAG1_ENST00000488480.1_RNA|JAG1_ENST00000423891.2_Silent_p.D563D	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	722	EGF-like 13. {ECO:0000255|PROSITE- ProRule:PRU00076}.				angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)	p.D722D(2)		biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CATCCCCCTCATCATAGCAGG	0.542									Alagille Syndrome																												p.D722D												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T2166C	20						.						122.0	99.0	107.0					20																	10625852		2203	4300	6503	10573852	SO:0001819	synonymous_variant	182	exon17	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.2166T>C	20.37:g.10625852A>G			10573852	NM_000214	A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Silent	SNP	ENST00000254958.5	37	CCDS13112.1																																																																																				0.542	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214	
JAG1	182	broad.mit.edu	37	20	10628734	10628734	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr20:10628734T>A	ENST00000254958.5	-	13	2109	c.1594A>T	c.(1594-1596)Aat>Tat	p.N532Y	JAG1_ENST00000488480.1_RNA|JAG1_ENST00000423891.2_Missense_Mutation_p.N373Y	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	532	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)	p.N532Y(2)		biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						TGGCAGGGATTAGGCTCACAA	0.507									Alagille Syndrome																												p.N532Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1594T	20						.						128.0	112.0	117.0					20																	10628734		2203	4300	6503	10576734	SO:0001583	missense	182	exon13	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.1594A>T	20.37:g.10628734T>A	ENSP00000254958:p.Asn532Tyr		10576734	NM_000214	A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Missense_Mutation	SNP	ENST00000254958.5	37	CCDS13112.1	.	.	.	.	.	.	.	.	.	.	T	18.07	3.542139	0.65198	.	.	ENSG00000101384	ENST00000254958;ENST00000423891	D;D	0.91577	-2.87;-2.87	5.77	5.77	0.91146	EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.041946	0.85682	D	0.000000	D	0.91898	0.7435	M	0.88031	2.925	0.53688	D	0.999978	B	0.33549	0.417	B	0.36922	0.236	D	0.91743	0.5406	10	0.66056	D	0.02	.	10.4391	0.44455	0.0:0.0725:0.0:0.9275	.	532	P78504	JAG1_HUMAN	Y	532;373	ENSP00000254958:N532Y;ENSP00000389519:N373Y	ENSP00000254958:N532Y	N	-	1	0	JAG1	10576734	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.292000	0.72725	2.197000	0.70478	0.533000	0.62120	AAT		0.507	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214	
ZNF133	7692	broad.mit.edu	37	20	18296910	18296910	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr20:18296910G>A	ENST00000316358.4	+	4	1512	c.1415G>A	c.(1414-1416)gGc>gAc	p.G472D	ZNF133_ENST00000535822.1_Missense_Mutation_p.G377D|ZNF133_ENST00000538547.1_Missense_Mutation_p.G377D|ZNF133_ENST00000401790.1_Missense_Mutation_p.G472D|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000402618.2_Missense_Mutation_p.G409D|RP4-568F9.3_ENST00000436848.1_RNA|ZNF133_ENST00000396026.3_Missense_Mutation_p.G475D|ZNF133_ENST00000377671.3_Missense_Mutation_p.G471D	NM_001282998.1|NM_001282999.1|NM_001283000.1|NM_001283001.1|NM_001283008.1	NP_001269927.1|NP_001269928.1|NP_001269929.1|NP_001269930.1|NP_001269937.1	P52736	ZN133_HUMAN	zinc finger protein 133	472					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G471D(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						AAGGACTGTGGCCGGGGCTTC	0.582																																					p.G471D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1412A	20						.						51.0	47.0	48.0					20																	18296910		2203	4300	6503	18244910	SO:0001583	missense	7692	exon7			AK123005	CCDS13134.1, CCDS63234.1, CCDS63235.1, CCDS74703.1, CCDS74704.1	20p11.23	2013-01-08	2006-06-13		ENSG00000125846	ENSG00000125846		"""Zinc fingers, C2H2-type"", ""-"""	12917	protein-coding gene	gene with protein product		604075	"""zinc finger protein 150 (pHZ-66)"", ""zinc finger protein 133 (clone pHZ-13)"""	ZNF150		7557990, 7649249	Standard	XM_005260819		Approved	pHZ-13, pHZ-66	uc010gcs.3	P52736	OTTHUMG00000031965	ENST00000316358.4:c.1415G>A	20.37:g.18296910G>A	ENSP00000346090:p.Gly472Asp		18244910	NM_003434	A8K5S4|B4DHU7|B4DIB8|B7ZAS1|F5H289|J3KQ11|J3KQJ0|Q53XU1|Q5JXV8|Q9BUV2|Q9H443	Missense_Mutation	SNP	ENST00000316358.4	37		.	.	.	.	.	.	.	.	.	.	G	18.15	3.560327	0.65538	.	.	ENSG00000125846	ENST00000377671;ENST00000396026;ENST00000402618;ENST00000401790;ENST00000538547;ENST00000535822;ENST00000316358	T;T;T;T;T;T;T	0.20881	2.04;2.04;2.04;2.04;2.04;2.04;2.04	4.44	4.44	0.53790	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000115	T	0.41834	0.1176	L	0.55213	1.73	0.38991	D	0.959147	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.994;0.998;0.996;0.994	T	0.35475	-0.9787	10	0.87932	D	0	-29.1402	15.3821	0.74664	0.0:0.0:1.0:0.0	.	409;475;472;471	B4DIB8;B4DHU7;P52736;P52736-2	.;.;ZN133_HUMAN;.	D	471;475;409;472;377;377;472	ENSP00000366899:G471D;ENSP00000400897:G475D;ENSP00000385279:G409D;ENSP00000383945:G472D;ENSP00000442978:G377D;ENSP00000439427:G377D;ENSP00000346090:G472D	ENSP00000346090:G472D	G	+	2	0	ZNF133	18244910	1.000000	0.71417	0.967000	0.41034	0.902000	0.53008	5.034000	0.64152	2.764000	0.94973	0.555000	0.69702	GGC		0.582	ZNF133-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000127616.1	NM_003434	
SLC24A3	57419	broad.mit.edu	37	20	19679227	19679227	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr20:19679227C>A	ENST00000328041.6	+	15	1819	c.1622C>A	c.(1621-1623)gCt>gAt	p.A541D	RP4-718D20.3_ENST00000598694.1_RNA|RP4-718D20.3_ENST00000435992.2_RNA|RP4-718D20.3_ENST00000600889.1_RNA|RP4-718D20.3_ENST00000609846.1_RNA|RP4-718D20.3_ENST00000593770.1_RNA	NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	541					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)	p.A541D(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGGGACATGGCTGTGTCCAAC	0.582																																					p.A541D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1622A	20						.						104.0	75.0	85.0					20																	19679227		2203	4300	6503	19627227	SO:0001583	missense	57419	exon15			AF169257	CCDS13140.1	20p13	2013-05-22			ENSG00000185052	ENSG00000185052		"""Solute carriers"""	10977	protein-coding gene	gene with protein product		609839					Standard	NM_020689		Approved		uc002wrl.3	Q9HC58	OTTHUMG00000031993	ENST00000328041.6:c.1622C>A	20.37:g.19679227C>A	ENSP00000333519:p.Ala541Asp		19627227	NM_020689	B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	Missense_Mutation	SNP	ENST00000328041.6	37	CCDS13140.1	.	.	.	.	.	.	.	.	.	.	C	33	5.244581	0.95272	.	.	ENSG00000185052	ENST00000328041	T	0.69306	-0.39	5.8	5.8	0.92144	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	D	0.88980	0.6585	H	0.97390	3.995	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92276	0.5829	9	.	.	.	.	18.8252	0.92115	0.0:1.0:0.0:0.0	.	541	Q9HC58	NCKX3_HUMAN	D	541	ENSP00000333519:A541D	.	A	+	2	0	SLC24A3	19627227	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.818000	0.86416	2.758000	0.94735	0.561000	0.74099	GCT		0.582	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078207.4	NM_020689	
SSTR4	6754	broad.mit.edu	37	20	23016479	23016479	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr20:23016479G>A	ENST00000255008.3	+	1	423	c.359G>A	c.(358-360)cGc>cAc	p.R120H	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	120					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)	p.R120H(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GTGCTGTGCCGCGCGGTGCTC	0.682																																					p.R120H	Esophageal Squamous(15;850 1104 16640)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G359A	20						.						76.0	75.0	76.0					20																	23016479		2202	4295	6497	22964479	SO:0001583	missense	6754	exon1				CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"""GPCR / Class A : Somatostatin receptors"""	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.359G>A	20.37:g.23016479G>A	ENSP00000255008:p.Arg120His		22964479	NM_001052	Q17RM1|Q17RM3|Q9UIY1	Missense_Mutation	SNP	ENST00000255008.3	37	CCDS42856.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443664	0.83993	.	.	ENSG00000132671	ENST00000255008	T	0.19532	2.14	3.48	3.48	0.39840	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000010	T	0.28200	0.0696	L	0.49126	1.545	0.49915	D	0.99983	P	0.50710	0.938	P	0.49528	0.614	T	0.09796	-1.0658	10	0.66056	D	0.02	.	13.6648	0.62389	0.0:0.0:1.0:0.0	.	120	P31391	SSR4_HUMAN	H	120	ENSP00000255008:R120H	ENSP00000255008:R120H	R	+	2	0	SSTR4	22964479	1.000000	0.71417	0.878000	0.34440	0.864000	0.49448	8.681000	0.91228	1.761000	0.52028	0.655000	0.94253	CGC		0.682	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1		
TMC2	117532	broad.mit.edu	37	20	2597827	2597827	+	Missense_Mutation	SNP	C	C	T	rs373197061		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr20:2597827C>T	ENST00000358864.1	+	16	2065	c.2050C>T	c.(2050-2052)Cgc>Tgc	p.R684C	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	684					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)	p.R684C(1)		NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						ACCCCATGAACGCGTGTTCAA	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		20060	0.0		0.001	False		,,,				2504	0.0				p.R684C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2050T	20						.	C	CYS/ARG	0,4406		0,0,2203	196.0	136.0	156.0		2050	4.3	0.8	20		156	1,8599	1.2+/-3.3	0,1,4299	no	missense	TMC2	NM_080751.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	684/907	2597827	1,13005	2203	4300	6503	2545827	SO:0001583	missense	117532	exon16			AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.2050C>T	20.37:g.2597827C>T	ENSP00000351732:p.Arg684Cys		2545827	NM_080751	Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	ENST00000358864.1	37	CCDS13029.2	.	.	.	.	.	.	.	.	.	.	C	21.1	4.102666	0.76983	0.0	1.16E-4	ENSG00000149488	ENST00000358864	T	0.68479	-0.33	5.35	4.34	0.51931	.	0.000000	0.85682	D	0.000000	D	0.82632	0.5079	M	0.86864	2.845	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85210	0.1020	10	0.87932	D	0	-12.7658	12.8447	0.57823	0.1638:0.8362:0.0:0.0	.	684	Q8TDI7	TMC2_HUMAN	C	684	ENSP00000351732:R684C	ENSP00000351732:R684C	R	+	1	0	TMC2	2545827	0.853000	0.29707	0.839000	0.33178	0.946000	0.59487	1.573000	0.36472	2.656000	0.90262	0.650000	0.86243	CGC		0.582	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2		
VSX1	30813	broad.mit.edu	37	20	25060077	25060077	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr20:25060077C>T	ENST00000376709.4	-	2	761	c.498G>A	c.(496-498)cgG>cgA	p.R166R	VSX1_ENST00000429762.3_Silent_p.R166R|VSX1_ENST00000444511.2_Silent_p.R166R|VSX1_ENST00000424574.1_Silent_p.R166R|VSX1_ENST00000376707.3_Silent_p.R166R|VSX1_ENST00000451258.1_Silent_p.R166R	NM_014588.5	NP_055403.2	Q9NZR4	VSX1_HUMAN	visual system homeobox 1	166			R -> W (in KTCN1; sporadic). {ECO:0000269|PubMed:11978762}.		neuron maturation (GO:0042551)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R166R(1)		central_nervous_system(1)|large_intestine(3)|lung(2)	6						TATACCTGTGCCGCCGCTTCT	0.557																																					p.R166R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G498A	20						.						61.0	46.0	51.0					20																	25060077		2203	4300	6503	25008077	SO:0001819	synonymous_variant	30813	exon2			AF176797	CCDS13168.1, CCDS13169.1, CCDS58766.1, CCDS58767.1	20p11.21	2014-02-14	2007-07-12		ENSG00000100987	ENSG00000100987		"""Homeoboxes / PRD class"""	12723	protein-coding gene	gene with protein product		605020	"""posterior polymorphous corneal dystrophy"", ""visual system homeobox 1 homolog, CHX10-like (zebrafish)"""	PPCD		10673340	Standard	NM_001256272		Approved	PPD, PPCD1	uc002wuf.4	Q9NZR4	OTTHUMG00000032111	ENST00000376709.4:c.498G>A	20.37:g.25060077C>T			25008077	NM_199425	B9EGJ4|D1MF28|Q0GM60|Q0GM61|Q0GM62|Q0GM63|Q0GM64|Q0GM65|Q5TF40|Q5TF41|Q9HCU3|Q9NU27	Silent	SNP	ENST00000376709.4	37	CCDS13168.1																																																																																				0.557	VSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078384.3		
CHMP4B	128866	broad.mit.edu	37	20	32439896	32439896	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr20:32439896C>T	ENST00000217402.2	+	4	662	c.497C>T	c.(496-498)gCg>gTg	p.A166V		NM_176812.4	NP_789782.1	Q9H444	CHM4B_HUMAN	charged multivesicular body protein 4B	166					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|negative regulation of autophagic vacuole assembly (GO:1902902)|negative regulation of neuron death (GO:1901215)|positive regulation of viral release from host cell (GO:1902188)|posttranslational protein targeting to membrane (GO:0006620)|protein homooligomerization (GO:0051260)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|ESCRT III complex (GO:0000815)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)	p.A166V(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						GAGCTCATGGCGGAATTAGAA	0.493																																					p.A166V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C497T	20						.						122.0	125.0	124.0					20																	32439896		2203	4300	6503	31903557	SO:0001583	missense	128866	exon4			AL050349	CCDS13228.1	20q11.22	2011-09-21	2011-09-21	2005-04-04	ENSG00000101421	ENSG00000101421		"""Charged multivesicular body proteins"""	16171	protein-coding gene	gene with protein product		610897	"""chromosome 20 open reading frame 178"", ""chromatin modifying protein 4B"""	C20orf178		14678797	Standard	NM_176812		Approved	dJ553F4.4, Shax1, SNF7-2, VPS32B	uc002xaa.3	Q9H444	OTTHUMG00000032272	ENST00000217402.2:c.497C>T	20.37:g.32439896C>T	ENSP00000217402:p.Ala166Val		31903557	NM_176812	E1P5N4|Q53ZD6	Missense_Mutation	SNP	ENST00000217402.2	37	CCDS13228.1	.	.	.	.	.	.	.	.	.	.	C	34	5.349876	0.95830	.	.	ENSG00000101421	ENST00000217402	T	0.74737	-0.87	6.11	6.11	0.99139	.	0.000000	0.85682	D	0.000000	D	0.89312	0.6679	M	0.91459	3.21	0.80722	D	1	D	0.76494	0.999	D	0.69142	0.962	D	0.88083	0.2808	10	0.38643	T	0.18	-14.5115	20.731	0.99711	0.0:1.0:0.0:0.0	.	166	Q9H444	CHM4B_HUMAN	V	166	ENSP00000217402:A166V	ENSP00000217402:A166V	A	+	2	0	CHMP4B	31903557	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	5.889000	0.69766	2.907000	0.99374	0.609000	0.83330	GCG		0.493	CHMP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078738.2		
MYH7B	57644	broad.mit.edu	37	20	33577719	33577719	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr20:33577719C>T	ENST00000262873.7	+	18	1982	c.1890C>T	c.(1888-1890)ggC>ggT	p.G630G	MIR499A_ENST00000384903.1_RNA	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	588	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.G630G(1)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			ACTACGCAGGCGTGGTAGGTG	0.642																																					p.G630G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1890T	20						.						41.0	45.0	44.0					20																	33577719		2102	4235	6337	33041380	SO:0001819	synonymous_variant	57644	exon20			AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.1890C>T	20.37:g.33577719C>T			33041380	NM_020884	Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Silent	SNP	ENST00000262873.7	37	CCDS42869.1																																																																																				0.642	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884	
ATRN	8455	broad.mit.edu	37	20	3542977	3542977	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr20:3542977A>G	ENST00000262919.5	+	9	1570	c.1502A>G	c.(1501-1503)tAc>tGc	p.Y501C	ATRN_ENST00000446916.2_Missense_Mutation_p.Y501C	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	501					cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.Y501C(1)		breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						CAAGGGGGTTACGGCCATAGC	0.507																																					p.Y501C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1502G	20						.						291.0	254.0	267.0					20																	3542977		2203	4300	6503	3490977	SO:0001583	missense	8455	exon9			AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"""mahogany protein"""	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.1502A>G	20.37:g.3542977A>G	ENSP00000262919:p.Tyr501Cys		3490977	NM_139322	A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Missense_Mutation	SNP	ENST00000262919.5	37	CCDS13053.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.172502	0.78452	.	.	ENSG00000088812	ENST00000262919;ENST00000446916;ENST00000340500	T;T	0.63255	-0.03;-0.03	4.65	4.65	0.58169	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.82972	0.5153	M	0.92555	3.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.87383	0.2358	10	0.87932	D	0	-16.1794	13.8787	0.63670	1.0:0.0:0.0:0.0	.	501;501	O75882;O75882-2	ATRN_HUMAN;.	C	501;501;427	ENSP00000262919:Y501C;ENSP00000416587:Y501C	ENSP00000262919:Y501C	Y	+	2	0	ATRN	3490977	1.000000	0.71417	0.995000	0.50966	0.939000	0.58152	9.101000	0.94219	1.936000	0.56123	0.482000	0.46254	TAC		0.507	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077740.2	NM_139321	
SOGA1	140710	broad.mit.edu	37	20	35422831	35422831	+	Silent	SNP	C	C	T	rs569182553		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr20:35422831C>T	ENST00000357779.3	-	14	3266	c.2940G>A	c.(2938-2940)tcG>tcA	p.S980S	SOGA1_ENST00000456801.2_Silent_p.S821S|SOGA1_ENST00000279034.6_Silent_p.S980S|SOGA1_ENST00000237536.4_Silent_p.S1218S			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	980					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.S980S(1)		endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						AGTCCCTCGACGAGAGCCCAG	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		17253	0.0		0.0	False		,,,				2504	0.001				p.S1218S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3654A	20						.						31.0	33.0	32.0					20																	35422831		1946	4145	6091	34856245	SO:0001819	synonymous_variant	140710	exon14			AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.2940G>A	20.37:g.35422831C>T			34856245	NM_080627	A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Silent	SNP	ENST00000357779.3	37																																																																																					0.637	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181	
ACTR5	79913	broad.mit.edu	37	20	37396116	37396116	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr20:37396116G>T	ENST00000243903.4	+	8	1480	c.1443G>T	c.(1441-1443)aaG>aaT	p.K481N		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	481				K -> E (in Ref. 1; BAB14270). {ECO:0000305}.	DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|UV-damage excision repair (GO:0070914)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)		p.K481N(1)		kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				GGTACCCAAAGGACATTCAGG	0.428																																					p.K481N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1443T	20						.						136.0	119.0	125.0					20																	37396116		2203	4300	6503	36829530	SO:0001583	missense	79913	exon8			AK022847	CCDS13308.1	20q12	2011-07-06	2001-11-28		ENSG00000101442	ENSG00000101442		"""INO80 complex subunits"""	14671	protein-coding gene	gene with protein product	"""INO80 complex subunit M"""		"""ARP5 (actin-related protein 5, yeast) homolog"""			16230350	Standard	NM_024855		Approved	FLJ12785, Arp5, INO80M	uc002xjd.2	Q9H9F9	OTTHUMG00000032456	ENST00000243903.4:c.1443G>T	20.37:g.37396116G>T	ENSP00000243903:p.Lys481Asn		36829530	NM_024855	Q86WF7|Q8IUY5|Q8N724|Q9BRN0|Q9BVB7	Missense_Mutation	SNP	ENST00000243903.4	37	CCDS13308.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.396888	0.25205	.	.	ENSG00000101442	ENST00000243903	T	0.07908	3.15	5.81	1.3	0.21679	.	0.103295	0.64402	D	0.000002	T	0.05914	0.0154	L	0.29908	0.895	0.43368	D	0.995459	P	0.44521	0.837	B	0.42030	0.373	T	0.49688	-0.8913	10	0.19147	T	0.46	-35.5692	8.3016	0.32017	0.538:0.0:0.462:0.0	.	481	Q9H9F9	ARP5_HUMAN	N	481	ENSP00000243903:K481N	ENSP00000243903:K481N	K	+	3	2	ACTR5	36829530	0.994000	0.37717	0.937000	0.37676	0.556000	0.35491	0.203000	0.17315	0.397000	0.25310	-0.137000	0.14449	AAG		0.428	ACTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079205.2	NM_024855	
CHD6	84181	broad.mit.edu	37	20	40050022	40050022	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr20:40050022C>A	ENST00000373233.3	-	31	5430	c.5253G>T	c.(5251-5253)gaG>gaT	p.E1751D		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1751					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)	p.E1751D(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CTATTTCTGCCTCAGGGCCAC	0.418																																					p.E1751D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5253T	20						.						95.0	101.0	99.0					20																	40050022		2203	4300	6503	39483436	SO:0001583	missense	84181	exon31			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.5253G>T	20.37:g.40050022C>A	ENSP00000362330:p.Glu1751Asp		39483436	NM_032221	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	C	4.601	0.111727	0.08831	.	.	ENSG00000124177	ENST00000373233	D	0.85702	-2.02	6.03	1.95	0.26073	.	0.202281	0.34932	N	0.003569	T	0.71978	0.3404	L	0.29908	0.895	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.59257	-0.7488	10	0.29301	T	0.29	-11.2913	5.3163	0.15856	0.1574:0.5611:0.0:0.2815	.	1751	Q8TD26	CHD6_HUMAN	D	1751	ENSP00000362330:E1751D	ENSP00000362330:E1751D	E	-	3	2	CHD6	39483436	0.965000	0.33210	0.953000	0.39169	0.252000	0.25951	0.156000	0.16382	0.447000	0.26695	0.655000	0.94253	GAG		0.418	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1		
CHD6	84181	broad.mit.edu	37	20	40143482	40143482	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr20:40143482G>A	ENST00000373233.3	-	4	841	c.664C>T	c.(664-666)Cgg>Tgg	p.R222W	CHD6_ENST00000309279.7_Missense_Mutation_p.R222W|CHD6_ENST00000373222.3_Missense_Mutation_p.R257W	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	222	Required for DNA-dependent ATPase activity.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)	p.R222W(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TCAGGACTCCGCAGAGATGGG	0.537																																					p.R222W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C664T	20						.						122.0	114.0	117.0					20																	40143482		2203	4300	6503	39576896	SO:0001583	missense	84181	exon4			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.664C>T	20.37:g.40143482G>A	ENSP00000362330:p.Arg222Trp		39576896	NM_032221	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.430896	0.83776	.	.	ENSG00000124177	ENST00000373233;ENST00000309279;ENST00000373222	D;D;T	0.95035	-2.07;-3.59;-1.4	5.64	5.64	0.86602	.	0.397095	0.21815	N	0.068717	D	0.91002	0.7170	N	0.08118	0	0.32913	D	0.514741	B;D	0.59767	0.066;0.986	B;P	0.48571	0.006;0.582	D	0.93059	0.6472	10	0.66056	D	0.02	-9.1878	19.6979	0.96034	0.0:0.0:1.0:0.0	.	257;222	Q8TD26-2;Q8TD26	.;CHD6_HUMAN	W	222;222;257	ENSP00000362330:R222W;ENSP00000308684:R222W;ENSP00000362319:R257W	ENSP00000308684:R222W	R	-	1	2	CHD6	39576896	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.107000	0.64603	2.660000	0.90430	0.561000	0.74099	CGG		0.537	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1		
OSER1	51526	broad.mit.edu	37	20	42826336	42826336	+	Missense_Mutation	SNP	G	G	A	rs373020907		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr20:42826336G>A	ENST00000372970.2	-	6	415	c.235C>T	c.(235-237)Cgt>Tgt	p.R79C	OSER1_ENST00000255174.2_Missense_Mutation_p.R79C			Q9NX31	OSER1_HUMAN	oxidative stress responsive serine-rich 1	79	Poly-Arg.				cellular response to hydrogen peroxide (GO:0070301)			p.R79C(1)									GAACGTCGACGACGCTGAGTT	0.438																																					p.R79C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C235T	20						.	G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	70.0	67.0	68.0		235	5.4	1.0	20		68	0,8600		0,0,4300	no	missense	C20orf111	NM_016470.7	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	79/293	42826336	1,13005	2203	4300	6503	42259750	SO:0001583	missense	51526	exon4			AL035447	CCDS13327.1	20q13.11	2013-05-17	2013-05-17	2013-05-17	ENSG00000132823	ENSG00000132823			16105	protein-coding gene	gene with protein product	"""peroxide-inducible transcript 1"", ""oxidative stress-responsive 1"""		"""chromosome 20 open reading frame 111"""	C20orf111		17148688	Standard	NM_016470		Approved	dJ1183I21.1, HSPC207, Perit1, Osr1		Q9NX31	OTTHUMG00000032518	ENST00000372970.2:c.235C>T	20.37:g.42826336G>A	ENSP00000362061:p.Arg79Cys		42259750	NM_016470	B2RCK4|O95912|Q9NZ84|Q9P0R8	Missense_Mutation	SNP	ENST00000372970.2	37	CCDS13327.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964889	0.74131	2.27E-4	0.0	ENSG00000132823	ENST00000255174;ENST00000372970	T;T	0.63580	-0.05;-0.05	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.76385	0.3980	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.70227	0.968	T	0.78306	-0.2255	10	0.87932	D	0	-9.9833	14.4243	0.67204	0.0:0.0:0.8525:0.1475	.	79	Q9NX31	CT111_HUMAN	C	79	ENSP00000255174:R79C;ENSP00000362061:R79C	ENSP00000255174:R79C	R	-	1	0	C20orf111	42259750	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	4.164000	0.58190	2.704000	0.92352	0.467000	0.42956	CGT		0.438	OSER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079334.2	NM_016470	
DBNDD2	55861	broad.mit.edu	37	20	44038674	44038674	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr20:44038674T>C	ENST00000372720.3	+	4	905	c.674T>C	c.(673-675)cTg>cCg	p.L225P	DBNDD2_ENST00000357275.2_Missense_Mutation_p.L127P|SYS1-DBNDD2_ENST00000452133.1_3'UTR|DBNDD2_ENST00000372712.2_Missense_Mutation_p.L127P|DBNDD2_ENST00000372723.3_Missense_Mutation_p.L127P|DBNDD2_ENST00000360981.4_Missense_Mutation_p.L127P|DBNDD2_ENST00000372722.3_3'UTR|DBNDD2_ENST00000372717.1_3'UTR|TP53TG5_ENST00000494455.1_5'Flank|DBNDD2_ENST00000372710.3_Missense_Mutation_p.L229P	NM_018478.3	NP_060948.3	Q9BQY9	DBND2_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 2	225					negative regulation of protein kinase activity (GO:0006469)	cytoplasm (GO:0005737)		p.L225P(1)		breast(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				tccACCAACCTGCATAGCCCA	0.582																																					p.L127P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T380C	20						.						40.0	42.0	42.0					20																	44038674		2022	4155	6177	43472088	SO:0001583	missense	767557	exon4			AF220191	CCDS42880.1, CCDS42881.1, CCDS56193.1, CCDS56194.1	20q13.12	2007-07-23	2006-04-04	2006-04-04	ENSG00000244274	ENSG00000244274			15881	protein-coding gene	gene with protein product		611453	"""chromosome 20 open reading frame 35"""	C20orf35			Standard	NM_001048225		Approved	HSMNP1	uc002xof.3	Q9BQY9	OTTHUMG00000032576	ENST00000372720.3:c.674T>C	20.37:g.44038674T>C	ENSP00000361805:p.Leu225Pro		43472088	NM_001197140	Q331S6|Q5QPV4|Q5QPV6|Q9BQZ0|Q9BVL1|Q9H1F6|Q9NWZ0|Q9NY07|Q9NZ31	Missense_Mutation	SNP	ENST00000372720.3	37	CCDS56193.1	.	.	.	.	.	.	.	.	.	.	T	11.33	1.607416	0.28623	.	.	ENSG00000244274	ENST00000372723;ENST00000357275;ENST00000372720;ENST00000360981;ENST00000372712;ENST00000372710	T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57	5.72	0.438	0.16560	.	0.503243	0.19329	N	0.116954	T	0.16128	0.0388	N	0.16602	0.42	0.48511	D	0.999663	B	0.12630	0.006	B	0.15052	0.012	T	0.08046	-1.0741	10	0.29301	T	0.29	.	8.475	0.33007	0.0:0.3656:0.0:0.6344	.	225	Q9BQY9	DBND2_HUMAN	P	127;127;225;127;127;229	ENSP00000361808:L127P;ENSP00000349822:L127P;ENSP00000361805:L225P;ENSP00000354250:L127P;ENSP00000361797:L127P;ENSP00000361795:L229P	ENSP00000349822:L127P	L	+	2	0	DBNDD2	43472088	1.000000	0.71417	0.988000	0.46212	0.810000	0.45777	0.472000	0.22116	0.033000	0.15463	0.421000	0.28195	CTG		0.582	DBNDD2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079438.1	NM_018478	
ZSWIM1	90204	broad.mit.edu	37	20	44512232	44512232	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr20:44512232G>A	ENST00000372523.1	+	2	1096	c.1001G>A	c.(1000-1002)tGc>tAc	p.C334Y	ZSWIM1_ENST00000372520.1_Missense_Mutation_p.C334Y	NM_080603.4	NP_542170.3	Q9BR11	ZSWM1_HUMAN	zinc finger, SWIM-type containing 1	334						nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.C334Y(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13		Myeloproliferative disorder(115;0.028)				AATGCCATCTGCACAGGGCCA	0.552																																					p.C334Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1001A	20						.						108.0	99.0	102.0					20																	44512232		2203	4300	6503	43945639	SO:0001583	missense	90204	exon2			AL008726	CCDS13382.2	20q13.12	2013-09-20	2003-12-17	2003-12-19	ENSG00000168612	ENSG00000168612		"""Zinc fingers, SWIM-type"""	16155	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 162"""	C20orf162			Standard	NM_080603		Approved	dJ337O18.5	uc010ghi.3	Q9BR11	OTTHUMG00000074023	ENST00000372523.1:c.1001G>A	20.37:g.44512232G>A	ENSP00000361601:p.Cys334Tyr		43945639	NM_080603	Q5JZH2|Q9BR12|Q9BV30	Missense_Mutation	SNP	ENST00000372523.1	37	CCDS13382.2	.	.	.	.	.	.	.	.	.	.	G	17.77	3.471118	0.63625	.	.	ENSG00000168612	ENST00000372523;ENST00000372520	T;T	0.41065	1.01;1.01	5.03	5.03	0.67393	.	0.000000	0.64402	U	0.000013	T	0.57080	0.2029	L	0.36672	1.1	0.50039	D	0.999846	D	0.89917	1.0	D	0.87578	0.998	T	0.60193	-0.7311	10	0.87932	D	0	-10.3167	18.5723	0.91140	0.0:0.0:1.0:0.0	.	334	Q9BR11	ZSWM1_HUMAN	Y	334	ENSP00000361601:C334Y;ENSP00000361598:C334Y	ENSP00000361598:C334Y	C	+	2	0	ZSWIM1	43945639	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.500000	0.60387	2.620000	0.88729	0.655000	0.94253	TGC		0.552	ZSWIM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157064.2	NM_080603	
ZNF334	55713	broad.mit.edu	37	20	45130661	45130661	+	Silent	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr20:45130661T>C	ENST00000347606.4	-	5	1499	c.1317A>G	c.(1315-1317)ggA>ggG	p.G439G	ZNF334_ENST00000593880.1_Silent_p.G462G|ZNF334_ENST00000457685.2_Silent_p.G401G	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	439					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G439G(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				ATAAAAATTTTCCACATTGAC	0.373																																					p.G439G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1317G	20						.						115.0	112.0	113.0					20																	45130661		2203	4299	6502	44564068	SO:0001819	synonymous_variant	55713	exon5			AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"""Zinc fingers, C2H2-type"", ""-"""	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.1317A>G	20.37:g.45130661T>C			44564068	NM_018102	Q5T6U2|Q9NVW4	Silent	SNP	ENST00000347606.4	37	CCDS33480.1																																																																																				0.373	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079575.1		
SLC2A10	81031	broad.mit.edu	37	20	45354126	45354126	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr20:45354126T>C	ENST00000359271.2	+	2	701	c.451T>C	c.(451-453)Tat>Cat	p.Y151H		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	151					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sugar:proton symporter activity (GO:0005351)	p.Y151H(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				CCTGCTCTCCTATGCCCTCAA	0.622																																					p.Y151H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T451C	20						.						101.0	87.0	92.0					20																	45354126		2203	4300	6503	44787533	SO:0001583	missense	81031	exon2			AL137188	CCDS13402.1	20q13.12	2013-05-22			ENSG00000197496	ENSG00000197496		"""Solute carriers"""	13444	protein-coding gene	gene with protein product		606145				11247674	Standard	NM_030777		Approved	GLUT10	uc002xsl.3	O95528	OTTHUMG00000032657	ENST00000359271.2:c.451T>C	20.37:g.45354126T>C	ENSP00000352216:p.Tyr151His		44787533	NM_030777	A8K4J6|Q3MIX5|Q9H4I6	Missense_Mutation	SNP	ENST00000359271.2	37	CCDS13402.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.166388	0.78339	.	.	ENSG00000197496	ENST00000359271	T	0.81163	-1.46	5.44	5.44	0.79542	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.92645	0.7663	H	0.95816	3.725	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	D	0.94512	0.7719	10	0.62326	D	0.03	2.0675	15.5041	0.75725	0.0:0.0:0.0:1.0	.	151	O95528	GTR10_HUMAN	H	151	ENSP00000352216:Y151H	ENSP00000352216:Y151H	Y	+	1	0	SLC2A10	44787533	1.000000	0.71417	0.943000	0.38184	0.803000	0.45373	4.966000	0.63715	2.073000	0.62155	0.418000	0.28097	TAT		0.622	SLC2A10-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079578.2		
PREX1	57580	broad.mit.edu	37	20	47262499	47262499	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr20:47262499G>A	ENST00000371941.3	-	26	3424	c.3402C>T	c.(3400-3402)agC>agT	p.S1134S	PREX1_ENST00000396220.1_Silent_p.S1134S	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1134					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S1134S(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TGTCCATCTCGCTCTCTTCAC	0.622																																					p.S1134S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C3402T	20						.						116.0	87.0	97.0					20																	47262499		2203	4300	6503	46695906	SO:0001819	synonymous_variant	57580	exon26			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.3402C>T	20.37:g.47262499G>A			46695906	NM_020820	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Silent	SNP	ENST00000371941.3	37	CCDS13410.1																																																																																				0.622	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820	
PREX1	57580	broad.mit.edu	37	20	47266716	47266716	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr20:47266716C>T	ENST00000371941.3	-	24	2868	c.2846G>A	c.(2845-2847)aGc>aAc	p.S949N	PREX1_ENST00000396220.1_Missense_Mutation_p.S949N	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	949					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S949N(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GAAGGGTGGGCTGACCCTGCT	0.582																																					p.S949N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2846A	20						.						60.0	66.0	64.0					20																	47266716		2203	4300	6503	46700123	SO:0001583	missense	57580	exon24			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.2846G>A	20.37:g.47266716C>T	ENSP00000361009:p.Ser949Asn		46700123	NM_020820	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.862424	0.91511	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.52754	0.65;0.65	5.93	5.93	0.95920	.	0.000000	0.64402	U	0.000003	T	0.59742	0.2216	L	0.51422	1.61	0.53688	D	0.999974	D;D	0.71674	0.985;0.998	P;D	0.67231	0.833;0.95	T	0.50268	-0.8848	10	0.02654	T	1	.	20.3539	0.98825	0.0:1.0:0.0:0.0	.	949;246	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	N	949	ENSP00000361009:S949N;ENSP00000379522:S949N	ENSP00000361009:S949N	S	-	2	0	PREX1	46700123	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	7.818000	0.86416	2.826000	0.97356	0.655000	0.94253	AGC		0.582	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820	
DDX27	55661	broad.mit.edu	37	20	47838069	47838069	+	Silent	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr20:47838069T>C	ENST00000371764.4	+	2	276	c.267T>C	c.(265-267)acT>acC	p.T89T	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	89	Asp/Glu/Lys-rich.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.T89T(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TCGTTTTCACTGAGAAGGAGG	0.527																																					p.T89T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T267C	20						.						108.0	87.0	94.0					20																	47838069		2203	4300	6503	47271476	SO:0001819	synonymous_variant	55661	exon2			AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"""DEAD-boxes"""	15837	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"""				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.267T>C	20.37:g.47838069T>C			47271476	NM_017895	A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Silent	SNP	ENST00000371764.4	37	CCDS13416.1																																																																																				0.527	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080485.1		
SPATA2	9825	broad.mit.edu	37	20	48524901	48524901	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr20:48524901G>A	ENST00000422556.1	-	2	476	c.127C>T	c.(127-129)Cgg>Tgg	p.R43W	SPATA2_ENST00000289431.5_Missense_Mutation_p.R43W|SPATA2_ENST00000543716.1_Intron	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	43					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			GCTGCCACCCGCAGGCACTCA	0.552																																					p.R43W												.	.	0			c.C127T	20						.						66.0	58.0	61.0					20																	48524901		2203	4300	6503	47958308	SO:0001583	missense	9825	exon2			AB018300	CCDS13422.1	20q13.13	2014-06-13			ENSG00000158480	ENSG00000158480			14681	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 145"""	607662					Standard	NM_001135773		Approved	KIAA0757, PD1, tamo, PPP1R145	uc002xuw.3	Q9UM82	OTTHUMG00000032704	ENST00000422556.1:c.127C>T	20.37:g.48524901G>A	ENSP00000416799:p.Arg43Trp		47958308	NM_001135773	E1P626|O94857	Missense_Mutation	SNP	ENST00000422556.1	37	CCDS13422.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.914142	0.52546	.	.	ENSG00000158480	ENST00000289431;ENST00000422556	T;T	0.49139	0.79;0.79	4.79	3.81	0.43845	.	0.149808	0.45867	D	0.000334	T	0.61702	0.2368	L	0.57536	1.79	0.80722	D	1	D	0.76494	0.999	P	0.62298	0.9	T	0.66432	-0.5925	10	0.62326	D	0.03	-23.9859	15.1798	0.72947	0.0:0.1416:0.8584:0.0	.	43	Q9UM82	SPAT2_HUMAN	W	43	ENSP00000289431:R43W;ENSP00000416799:R43W	ENSP00000289431:R43W	R	-	1	2	SPATA2	47958308	1.000000	0.71417	0.998000	0.56505	0.190000	0.23558	4.579000	0.60936	1.327000	0.45338	0.655000	0.94253	CGG		0.552	SPATA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079658.1	NM_006038	
NFATC2	4773	broad.mit.edu	37	20	50071098	50071098	+	Silent	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	A	A	A	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr20:50071098A>G	ENST00000396009.3	-	6	2055	c.1836T>C	c.(1834-1836)acT>acC	p.T612T	NFATC2_ENST00000610033.1_Silent_p.T393T|NFATC2_ENST00000609507.1_Silent_p.T393T|NFATC2_ENST00000371564.3_Silent_p.T612T|NFATC2_ENST00000609943.1_Silent_p.T592T|MIR3194_ENST00000582236.1_RNA|NFATC2_ENST00000414705.1_Silent_p.T592T	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	612					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TGGTCTTCTCAGTAAACACAA	0.458																																					p.T612T												.	.	0			c.T1836C	20						.						143.0	147.0	146.0					20																	50071098		2203	4300	6503	49504505	SO:0001819	synonymous_variant	4773	exon6			U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.1836T>C	20.37:g.50071098A>G			49504505	NM_012340	B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Silent	SNP	ENST00000396009.3	37	CCDS13437.1																																																																																				0.458	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340	
SALL4	57167	broad.mit.edu	37	20	50406762	50406762	+	Missense_Mutation	SNP	C	C	T	rs199607966		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr20:50406762C>T	ENST00000217086.4	-	2	2371	c.2260G>A	c.(2260-2262)Gtg>Atg	p.V754M	SALL4_ENST00000395997.3_Intron|SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	754					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V754M(1)		endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCGCTCTCCACGGAACCGTTT	0.572																																					p.V754M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2260A	20	GRCh37	CM031726	SALL4	M		.	C	MET/VAL	0,4406		0,0,2203	71.0	57.0	62.0		2260	4.7	0.8	20		62	3,8597	3.0+/-9.4	0,3,4297	yes	missense	SALL4	NM_020436.3	21	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	benign	754/1054	50406762	3,13003	2203	4300	6503	49840169	SO:0001583	missense	57167	exon2			AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.2260G>A	20.37:g.50406762C>T	ENSP00000217086:p.Val754Met		49840169	NM_020436	A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	ENST00000217086.4	37	CCDS13438.1	.	.	.	.	.	.	.	.	.	.	C	9.927	1.213750	0.22289	0.0	3.49E-4	ENSG00000101115	ENST00000217086	T	0.09630	2.96	5.67	4.71	0.59529	.	0.404511	0.18296	N	0.145577	T	0.08358	0.0208	L	0.44542	1.39	0.35528	D	0.802035	P	0.47604	0.898	B	0.34138	0.176	T	0.34204	-0.9838	10	0.33940	T	0.23	-10.8146	10.0062	0.41959	0.0:0.6702:0.2595:0.0703	.	754	Q9UJQ4	SALL4_HUMAN	M	754	ENSP00000217086:V754M	ENSP00000217086:V754M	V	-	1	0	SALL4	49840169	0.764000	0.28473	0.832000	0.32986	0.674000	0.39518	2.714000	0.47202	1.324000	0.45282	0.655000	0.94253	GTG		0.572	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3		
DOK5	55816	broad.mit.edu	37	20	53260055	53260055	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr20:53260055G>A	ENST00000262593.5	+	7	1144	c.794G>A	c.(793-795)cGc>cAc	p.R265H	DOK5_ENST00000395939.1_Missense_Mutation_p.R157H	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	265					MAPK cascade (GO:0000165)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)		receptor signaling protein activity (GO:0005057)	p.R265H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			CCCCTGCCTCGCAGCGCCTAC	0.627																																					p.R265H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G794A	20						.						56.0	51.0	53.0					20																	53260055		2203	4300	6503	52693462	SO:0001583	missense	55816	exon7			AF132732	CCDS13446.1, CCDS13447.1	20q13.2	2013-01-10	2002-11-28	2002-11-29	ENSG00000101134	ENSG00000101134		"""Pleckstrin homology (PH) domain containing"""	16173	protein-coding gene	gene with protein product		608334	"""chromosome 20 open reading frame 180"""	C20orf180		11470823	Standard	XM_005260451		Approved	dJ805C22.1	uc002xwy.3	Q9P104	OTTHUMG00000032778	ENST00000262593.5:c.794G>A	20.37:g.53260055G>A	ENSP00000262593:p.Arg265His		52693462	NM_018431	Q5T7Y0|Q5TE53|Q8TEW7|Q96H13|Q9BZ24|Q9NQF4|Q9Y411	Missense_Mutation	SNP	ENST00000262593.5	37	CCDS13446.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.975817	0.92982	.	.	ENSG00000101134	ENST00000262593;ENST00000395939	D;D	0.93426	-2.23;-3.22	5.29	5.29	0.74685	.	0.057208	0.64402	D	0.000001	D	0.94863	0.8340	L	0.36672	1.1	0.58432	D	0.999991	D;D	0.89917	1.0;0.995	D;D	0.80764	0.994;0.964	D	0.95295	0.8398	10	0.59425	D	0.04	-7.3495	17.9128	0.88939	0.0:0.0:1.0:0.0	.	157;265	Q9P104-2;Q9P104	.;DOK5_HUMAN	H	265;157	ENSP00000262593:R265H;ENSP00000379270:R157H	ENSP00000262593:R265H	R	+	2	0	DOK5	52693462	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	6.468000	0.73551	2.464000	0.83262	0.563000	0.77884	CGC		0.627	DOK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079777.2		
AURKA	6790	broad.mit.edu	37	20	54961464	54961464	+	Silent	SNP	G	G	A	rs567107142		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr20:54961464G>A	ENST00000347343.2	-	3	435	c.168C>T	c.(166-168)cgC>cgT	p.R56R	AURKA_ENST00000395909.4_Silent_p.R56R|AURKA_ENST00000312783.6_Silent_p.R56R|AURKA_ENST00000395911.1_Silent_p.R56R|AURKA_ENST00000395914.1_Silent_p.R56R|AURKA_ENST00000395913.3_Silent_p.R56R|AURKA_ENST00000395907.1_Silent_p.R56R|AURKA_ENST00000395915.3_Silent_p.R56R|AURKA_ENST00000371356.2_Silent_p.R56R	NM_003600.2	NP_003591.2	O14965	AURKA_HUMAN	aurora kinase A	56					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|anterior/posterior axis specification (GO:0009948)|centrosome localization (GO:0051642)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein binding (GO:0032091)|negative regulation of spindle checkpoint (GO:0090233)|neuron projection extension (GO:1990138)|positive regulation of mitosis (GO:0045840)|positive regulation of oocyte maturation (GO:1900195)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein autophosphorylation (GO:0046777)|protein localization to centrosome (GO:0071539)|protein phosphorylation (GO:0006468)|regulation of centrosome cycle (GO:0046605)|regulation of protein stability (GO:0031647)|spindle assembly involved in female meiosis I (GO:0007057)|spindle stabilization (GO:0043146)	axon hillock (GO:0043203)|centrosome (GO:0005813)|cytosol (GO:0005829)|germinal vesicle (GO:0042585)|meiotic spindle (GO:0072687)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|histone serine kinase activity (GO:0035174)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.R56R(2)		breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22			Colorectal(105;0.202)			GCAAAGGAATGCGCTGGGAAG	0.483													g|||	1	0.000199681	0.0	0.0014	5008	,	,		18262	0.0		0.0	False		,,,				2504	0.0				p.R56R	Melanoma(34;439 1292 51416 52695)|GBM(144;1525 2517 48902 51835)|Esophageal Squamous(191;569 2880 14195 30540)											.	.	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	c.C168T	20						.						125.0	116.0	119.0					20																	54961464		2203	4300	6503	54394871	SO:0001819	synonymous_variant	6790	exon4			BC001280	CCDS13451.1	20q13	2012-07-23	2003-07-21	2003-07-23	ENSG00000087586	ENSG00000087586		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	11393	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 47"", ""Aurora-A kinase"""	603072	"""serine/threonine kinase 15"", "" serine/threonine kinase 6"""	STK15, STK6		9174055, 9771714	Standard	NM_003600		Approved	BTAK, AurA, STK7, ARK1, PPP1R47, AIK	uc002xxi.1	O14965	OTTHUMG00000032796	ENST00000347343.2:c.168C>T	20.37:g.54961464G>A			54394871	NM_198436	E1P5F9|O60445|O75873|Q9BQD6|Q9UPG5	Silent	SNP	ENST00000347343.2	37	CCDS13451.1																																																																																				0.483	AURKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079804.3	NM_003600	
ZBP1	81030	broad.mit.edu	37	20	56185305	56185305	+	Silent	SNP	G	G	A	rs186925447		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr20:56185305G>A	ENST00000371173.3	-	7	1170	c.993C>T	c.(991-993)gaC>gaT	p.D331D	ZBP1_ENST00000343535.4_Silent_p.D331D|ZBP1_ENST00000340462.4_Silent_p.D308D|ZBP1_ENST00000395822.3_Silent_p.D256D	NM_001160417.1|NM_030776.2	NP_001153889.1|NP_110403.2	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	331					innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|left-handed Z-DNA binding (GO:0003692)|RNA binding (GO:0003723)	p.D331D(1)		large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			CGATGGTGGCGTCCTCGAGAA	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		18253	0.001		0.0	False		,,,				2504	0.0				p.D330D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C990T	20						.	G	,,	1,4405	2.1+/-5.4	0,1,2202	209.0	213.0	211.0		990,768,993	-6.6	0.0	20		211	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	ZBP1	NM_001160417.1,NM_001160418.1,NM_030776.2	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	330/429,256/355,331/430	56185305	1,13005	2203	4300	6503	55618711	SO:0001819	synonymous_variant	81030	exon7			AJ300575	CCDS13461.1, CCDS54477.1, CCDS54478.1	20q13.31	2009-08-21	2002-07-25	2002-07-26	ENSG00000124256	ENSG00000124256			16176	protein-coding gene	gene with protein product	"""DNA-dependent activator of IRFs"""	606750	"""chromosome 20 open reading frame 183"""	C20orf183		11842111	Standard	NM_030776		Approved	dJ718J7.3, DLM1, DLM-1, DAI	uc002xyo.3	Q9H171	OTTHUMG00000032824	ENST00000371173.3:c.993C>T	20.37:g.56185305G>A			55618711	NM_001160417	A2A2F7|B3KVA1|F5GYT1|Q5JY39|Q9BYW4	Silent	SNP	ENST00000371173.3	37	CCDS13461.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	2.819	-0.245245	0.05906	2.27E-4	0.0	ENSG00000124256	ENST00000453793	.	.	.	4.03	-6.57	0.01842	.	.	.	.	.	T	0.24967	0.0606	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27400	-1.0075	4	.	.	.	-18.5432	6.8038	0.23766	0.4777:0.2171:0.3052:0.0	.	.	.	.	M	6	.	.	T	-	2	0	ZBP1	55618711	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.448000	0.02394	-1.778000	0.01282	-1.564000	0.00881	ACG		0.597	ZBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079849.1	NM_030776	
CDH4	1002	broad.mit.edu	37	20	60448849	60448849	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr20:60448849C>T	ENST00000360469.5	+	7	1031	c.943C>T	c.(943-945)Cgg>Tgg	p.R315W	CDH4_ENST00000543233.1_Missense_Mutation_p.R241W	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	315	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R315W(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CGGGATGGTGCGGTACCGGAT	0.612																																					p.R315W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C943T	20						.						160.0	124.0	136.0					20																	60448849		2203	4300	6503	59882244	SO:0001583	missense	1002	exon7			L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.943C>T	20.37:g.60448849C>T	ENSP00000353656:p.Arg315Trp		59882244	NM_001794	B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.684470	0.68157	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.54866	0.55;0.55	4.92	1.43	0.22495	Cadherin (4);Cadherin-like (1);	0.230798	0.40640	N	0.001048	T	0.75657	0.3879	M	0.93550	3.43	0.39684	D	0.970949	D	0.89917	1.0	D	0.66351	0.943	T	0.82406	-0.0473	9	.	.	.	.	12.8927	0.58080	0.7422:0.2578:0.0:0.0	.	315	P55283	CADH4_HUMAN	W	315;223;241	ENSP00000353656:R315W;ENSP00000443301:R241W	.	R	+	1	2	CDH4	59882244	1.000000	0.71417	0.978000	0.43139	0.759000	0.43091	1.829000	0.39121	0.433000	0.26313	0.585000	0.79938	CGG		0.612	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794	
TAF4	6874	broad.mit.edu	37	20	60575700	60575700	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr20:60575700G>A	ENST00000252996.4	-	10	2563	c.2564C>T	c.(2563-2565)aCg>aTg	p.T855M		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	855					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.T855M(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			TTCAGAGTTCGTGGCTAATAT	0.443																																					p.T855M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2564T	20						.						150.0	142.0	145.0					20																	60575700		2203	4300	6503	60009095	SO:0001583	missense	6874	exon10			Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"""	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.2564C>T	20.37:g.60575700G>A	ENSP00000252996:p.Thr855Met		60009095	NM_003185	A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Missense_Mutation	SNP	ENST00000252996.4	37	CCDS33500.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489902	0.84962	.	.	ENSG00000130699	ENST00000252996;ENST00000436129	T;T	0.27402	1.68;1.67	5.05	5.05	0.67936	Transcription initiation factor TFIID component TAF4 (1);	0.000000	0.85682	D	0.000000	T	0.59183	0.2175	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65022	-0.6269	10	0.87932	D	0	-16.2742	18.3933	0.90490	0.0:0.0:1.0:0.0	.	855	O00268	TAF4_HUMAN	M	855;719	ENSP00000252996:T855M;ENSP00000399091:T719M	ENSP00000252996:T855M	T	-	2	0	TAF4	60009095	1.000000	0.71417	0.900000	0.35374	0.658000	0.38924	7.536000	0.82023	2.327000	0.79052	0.561000	0.74099	ACG		0.443	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2	NM_003185	
LSM14B	149986	broad.mit.edu	37	20	60708368	60708368	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr20:60708368G>A	ENST00000279068.6	+	8	1169	c.1009G>A	c.(1009-1011)Gaa>Aaa	p.E337K	LSM14B_ENST00000253001.4_Missense_Mutation_p.E337K	NM_144703.2	NP_653304.2	Q9BX40	LS14B_HUMAN	LSM14B, SCD6 homolog B (S. cerevisiae)	337					multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)	ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)	p.E337K(1)		endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			GACGTGGGCCGAAGAGAGGAA	0.617																																					p.E337K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1009A	20						.						100.0	118.0	112.0					20																	60708368		2002	4149	6151	60141763	SO:0001583	missense	149986	exon8			AF172328	CCDS46626.1	20q13.33	2010-01-27	2006-12-21	2006-01-24	ENSG00000149657	ENSG00000149657			15887	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 40"", ""family with sequence similarity 61, member B"", ""LSM14 homolog B (SCD6, S. cerevisiae)"""	C20orf40, FAM61B			Standard	NM_144703		Approved	FT005, bA11M20.3, FLJ25473, LSM13, RAP55B	uc010gjy.1	Q9BX40	OTTHUMG00000032901	ENST00000279068.6:c.1009G>A	20.37:g.60708368G>A	ENSP00000279068:p.Glu337Lys		60141763	NM_144703	Q6PFW8|Q96LH8	Missense_Mutation	SNP	ENST00000279068.6	37	CCDS46626.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486678	0.84854	.	.	ENSG00000149657	ENST00000279068;ENST00000253001	T;T	0.54479	0.57;0.58	4.9	4.9	0.64082	FFD/TFG box motif (1);	0.000000	0.85682	D	0.000000	T	0.69744	0.3145	M	0.61703	1.905	0.58432	D	0.999994	D;D;D	0.89917	1.0;1.0;1.0	D;D;P	0.81914	0.995;0.995;0.885	T	0.72843	-0.4170	10	0.87932	D	0	.	16.0445	0.80711	0.0:0.0:1.0:0.0	.	257;337;337	E9PG81;Q9BX40;Q9BX40-2	.;LS14B_HUMAN;.	K	337	ENSP00000279068:E337K;ENSP00000253001:E337K	ENSP00000253001:E337K	E	+	1	0	LSM14B	60141763	1.000000	0.71417	0.569000	0.28460	0.339000	0.28857	9.284000	0.95882	2.564000	0.86499	0.655000	0.94253	GAA		0.617	LSM14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079996.4	NM_144703	
OSBPL2	9885	broad.mit.edu	37	20	60868912	60868912	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr20:60868912G>A	ENST00000313733.3	+	14	1614	c.1412G>A	c.(1411-1413)cGg>cAg	p.R471Q	OSBPL2_ENST00000439951.2_Missense_Mutation_p.G338R|OSBPL2_ENST00000358053.2_Missense_Mutation_p.R459Q|OSBPL2_ENST00000471817.1_3'UTR	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	471					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			TACTTTGAGCGGAATTTCTCC	0.612																																					p.R459Q												.	.	0			c.G1376A	20						.						59.0	55.0	56.0					20																	60868912		2203	4300	6503	60302307	SO:0001583	missense	9885	exon14			AB018315	CCDS13494.1, CCDS13495.1, CCDS63323.1	20q13.3	2008-08-01	2001-11-28		ENSG00000130703	ENSG00000130703		"""Oxysterol binding proteins"""	15761	protein-coding gene	gene with protein product		606731	"""oxysterol-binding protein-like 2"""			10588946, 11861666	Standard	NM_144498		Approved	KIAA0772, ORP-2	uc002yck.1	Q9H1P3	OTTHUMG00000032909	ENST00000313733.3:c.1412G>A	20.37:g.60868912G>A	ENSP00000316649:p.Arg471Gln		60302307	NM_014835	A8K736|Q6IBT0|Q9BZB1|Q9Y4B8	Missense_Mutation	SNP	ENST00000313733.3	37	CCDS13495.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.2|27.2	4.807128|4.807128	0.90623|0.90623	.|.	.|.	ENSG00000130703|ENSG00000130703	ENST00000439951|ENST00000358053;ENST00000313733	T|T;T	0.56776|0.31247	0.44|1.5;1.5	4.18|4.18	4.18|4.18	0.49190|0.49190	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.57681|0.57681	0.2070|0.2070	M|M	0.86178|0.86178	2.8|2.8	0.33031|0.33031	D|D	0.53011|0.53011	D|D;D	0.54601|0.89917	0.967|1.0;1.0	B|D;D	0.42188|0.97110	0.379|0.992;1.0	T|T	0.68364|0.68364	-0.5428|-0.5428	9|10	0.87932|0.21014	D|T	0|0.42	-29.0904|-29.0904	16.0991|16.0991	0.81158|0.81158	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	338|459;471	E7ET92|Q9H1P3-2;Q9H1P3	.|.;OSBL2_HUMAN	R|Q	338|459;471	ENSP00000397602:G338R|ENSP00000350755:R459Q;ENSP00000316649:R471Q	ENSP00000397602:G338R|ENSP00000316649:R471Q	G|R	+|+	1|2	0|0	OSBPL2|OSBPL2	60302307|60302307	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.547000|0.547000	0.35210|0.35210	7.330000|7.330000	0.79181|0.79181	1.885000|1.885000	0.54596|0.54596	0.561000|0.561000	0.74099|0.74099	GGA|CGG		0.612	OSBPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080021.1	NM_014835	
COL9A3	1299	broad.mit.edu	37	20	61460145	61460145	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr20:61460145C>T	ENST00000343916.3	+	18	933	c.930C>T	c.(928-930)ggC>ggT	p.G310G		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	310	Triple-helical region 3 (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female gonad development (GO:0008585)|male gonad development (GO:0008584)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.G310G(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					GCCAGAATGGCGTGCCAGGAC	0.697																																					p.G310G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C930T	20						.						56.0	51.0	53.0					20																	61460145		2202	4300	6502	60930590	SO:0001819	synonymous_variant	1299	exon18			AK075240	CCDS13505.1	20q13.3	2013-01-16			ENSG00000092758	ENSG00000092758		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2219	protein-coding gene	gene with protein product	"""collagen type IX proteoglycan"""	120270				8586434, 1429648	Standard	NM_001853		Approved	IDD, MED, EDM3, FLJ90759, DJ885L7.4.1	uc002ydm.3	Q14050	OTTHUMG00000032938	ENST00000343916.3:c.930C>T	20.37:g.61460145C>T			60930590	NM_001853	Q13681|Q9H4G9|Q9UPE2	Silent	SNP	ENST00000343916.3	37	CCDS13505.1																																																																																				0.697	COL9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080071.2	NM_001853	
ANGPT4	51378	broad.mit.edu	37	20	855029	855029	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr20:855029C>T	ENST00000381922.3	-	8	1351	c.1249G>A	c.(1249-1251)Gca>Aca	p.A417T	ANGPT4_ENST00000546022.1_Intron	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	417	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.A417T(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						TGGCGCCCTGCTGAGCCGCTG	0.602																																					p.A417T	Pancreas(181;481 2077 3259 31286 49856)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1249A	20						.						85.0	70.0	75.0					20																	855029		2203	4300	6503	803029	SO:0001583	missense	51378	exon8			AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"""Fibrinogen C domain containing"""	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.1249G>A	20.37:g.855029C>T	ENSP00000371347:p.Ala417Thr		803029	NM_015985	B4E3J9|Q5TFF4|Q9H4Z4	Missense_Mutation	SNP	ENST00000381922.3	37	CCDS13009.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.744788	0.49151	.	.	ENSG00000101280	ENST00000381922	D	0.82803	-1.65	5.25	2.11	0.27256	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.155121	0.41097	D	0.000956	D	0.87873	0.6287	M	0.91510	3.215	0.80722	D	1	D	0.61697	0.99	P	0.52424	0.698	D	0.86816	0.2001	10	0.72032	D	0.01	.	7.0634	0.25139	0.0:0.6974:0.1424:0.1602	.	417	Q9Y264	ANGP4_HUMAN	T	417	ENSP00000371347:A417T	ENSP00000371347:A417T	A	-	1	0	ANGPT4	803029	0.994000	0.37717	0.002000	0.10522	0.005000	0.04900	3.173000	0.50839	0.625000	0.30304	-0.136000	0.14681	GCA		0.602	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1	NM_015985	
SLC23A2	9962	broad.mit.edu	37	20	4837735	4837735	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr20:4837735delT	ENST00000379333.1	-	17	2228	c.1836delA	c.(1834-1836)aaafs	p.K612fs	SLC23A2_ENST00000424750.2_Frame_Shift_Del_p.K498fs|SLC23A2_ENST00000338244.1_Frame_Shift_Del_p.K612fs	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	612					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)	p.K612fs*>39(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						AGCATCTGTATTTTTTTATAA	0.473																																					p.K612fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1836delA	20						.						166.0	160.0	162.0					20																	4837735		2203	4300	6503	4785735	SO:0001589	frameshift_variant	9962	exon17			AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"""Solute carriers"""	10973	protein-coding gene	gene with protein product		603791	"""solute carrier family 23 (nucleobase transporters), member 1"""	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.1836delA	20.37:g.4837735delT	ENSP00000368637:p.Lys612fs		4785735	NM_203327	B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Frame_Shift_Del	DEL	ENST00000379333.1	37	CCDS13085.1																																																																																				0.473	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077832.1		
PLCB4	5332	broad.mit.edu	37	20	9449274	9449274	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr20:9449274C>T	ENST00000378493.1	+	32	3284	c.3269C>T	c.(3268-3270)gCc>gTc	p.A1090V	PLCB4_ENST00000334005.3_Missense_Mutation_p.A1090V|PLCB4_ENST00000414679.2_Missense_Mutation_p.A1102V|PLCB4_ENST00000378473.3_Missense_Mutation_p.A1102V|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378501.2_Missense_Mutation_p.A1090V|PLCB4_ENST00000278655.4_Missense_Mutation_p.A1090V			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	1090					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.A1090V(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AATAGCAAAGCCATCAGCCAA	0.423																																					p.A1090V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3269T	20						.						145.0	139.0	141.0					20																	9449274		2203	4300	6503	9397274	SO:0001583	missense	5332	exon32				CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.3269C>T	20.37:g.9449274C>T	ENSP00000367754:p.Ala1090Val		9397274	NM_000933	B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.164184	0.57476	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9	5.75	4.8	0.61643	.	1.405280	0.04104	N	0.313331	T	0.44871	0.1314	L	0.42245	1.32	0.80722	D	1	B;P;P;B	0.37525	0.026;0.48;0.598;0.371	B;B;B;B	0.36186	0.028;0.219;0.19;0.099	T	0.13737	-1.0498	10	0.40728	T	0.16	.	16.7624	0.85515	0.0:0.8708:0.1292:0.0	.	1102;937;1090;1090	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	V	1090;1102;1090;1090;1090;938	ENSP00000334105:A1090V;ENSP00000367734:A1102V;ENSP00000278655:A1090V;ENSP00000367754:A1090V;ENSP00000367762:A1090V;ENSP00000390616:A938V	ENSP00000278655:A1090V	A	+	2	0	PLCB4	9397274	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.183000	0.77697	1.411000	0.46957	0.655000	0.94253	GCC		0.423	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2		
ANKEF1	63926	broad.mit.edu	37	20	10025155	10025155	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr20:10025155C>T	ENST00000378380.3	+	4	989	c.660C>T	c.(658-660)caC>caT	p.H220H	ANKEF1_ENST00000488991.1_3'UTR|ANKEF1_ENST00000378392.1_Silent_p.H220H|SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000603542.1_RNA	NM_198798.1	NP_942093.1	Q9NU02	ANKE1_HUMAN	ankyrin repeat and EF-hand domain containing 1	220							calcium ion binding (GO:0005509)	p.H220H(1)									ACAGGCATCACGCTGCTCATT	0.383																																					p.H220H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C660T	20						.						217.0	196.0	203.0					20																	10025155		2203	4300	6503	9973155	SO:0001819	synonymous_variant	63926	exon4			AK025322	CCDS13108.1	20p12.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000132623	ENSG00000132623		"""EF-hand domain containing"", ""Ankyrin repeat domain containing"""	15803	protein-coding gene	gene with protein product			"""ankyrin repeat domain 5"""	ANKRD5		17142250	Standard	NM_022096		Approved	FLJ21669, dJ839B4.6	uc002wnp.3	Q9NU02	OTTHUMG00000031860	ENST00000378380.3:c.660C>T	20.37:g.10025155C>T			9973155	NM_198798	B3KUQ0|Q9H6Y9	Silent	SNP	ENST00000378380.3	37	CCDS13108.1																																																																																				0.383	ANKEF1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077968.2	NM_022096	
WFDC12	128488	broad.mit.edu	37	20	43752814	43752814	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr20:43752814delC	ENST00000372785.3	-	2	189	c.172delG	c.(172-174)gaafs	p.E58fs		NM_080869.1	NP_543145.1	Q8WWY7	WFD12_HUMAN	WAP four-disulfide core domain 12	58	WAP. {ECO:0000255|PROSITE- ProRule:PRU00722}.				defense response to bacterium (GO:0042742)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.E58fs*14(1)		endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6		Myeloproliferative disorder(115;0.0122)				CACTTCCTTTCCCCCAGACAG	0.547																																					p.E58fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.172delG	20						.						111.0	88.0	96.0					20																	43752814		2203	4300	6503	43186228	SO:0001589	frameshift_variant	128488	exon2			Z93016	CCDS13343.1	20q13.12	2013-01-21	2003-02-21	2003-02-21	ENSG00000168703	ENSG00000168703		"""WAP four-disulfide core domain containing"""	16115	protein-coding gene	gene with protein product		609872	"""chromosome 20 open reading frame 122"""	C20orf122		11779191, 12206714	Standard	NM_080869		Approved	dJ211D12.4, WAP2	uc002xnf.1	Q8WWY7	OTTHUMG00000046412	ENST00000372785.3:c.172delG	20.37:g.43752814delC	ENSP00000361871:p.Glu58fs		43186228	NM_080869	Q5H980|Q9BR31	Frame_Shift_Del	DEL	ENST00000372785.3	37	CCDS13343.1																																																																																				0.547	WFDC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000107194.1		
C20orf166-AS1	253868	broad.mit.edu	37	20	61143706	61143706	+	RNA	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr20:61143706C>T	ENST00000475015.1	-	0	632				C20orf166-AS1_ENST00000436101.1_RNA|C20orf166-AS1_ENST00000412495.1_RNA			Q96NR2	C2AS1_HUMAN	C20orf166 antisense RNA 1									p.A48T(1)									GATGGTGTGGCCCCGTGGGAA	0.657																																					.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	20						.						61.0	59.0	59.0					20																	61143706		2203	4299	6502	60554151			253868	.			AK054875		20q13.33	2012-10-12	2012-08-15	2011-08-10	ENSG00000174403	ENSG00000174403		"""Long non-coding RNAs"""	26393	non-coding RNA	RNA, long non-coding			"""chromosome 20 open reading frame 200"", ""non-protein coding RNA 335"", ""C20orf166 antisense RNA 1 (non-protein coding)"""	C20orf200, NCRNA00335			Standard	NR_033263		Approved	FLJ30313	uc002ycz.3	Q96NR2	OTTHUMG00000048002		20.37:g.61143706C>T			60554151	.	Q52LN1	Missense_Mutation	SNP	ENST00000475015.1	37																																																																																					0.657	C20orf166-AS1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000109266.2	NR_033263	
SLC17A9	63910	broad.mit.edu	37	20	61588214	61588214	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr20:61588214C>A	ENST00000370351.4	+	2	288	c.157C>A	c.(157-159)Cag>Aag	p.Q53K	SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370349.3_Missense_Mutation_p.Q47K	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	53					exocytosis (GO:0006887)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.Q53K(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CTCCATGAGCCAGGACTTCGG	0.652																																					p.Q53K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C157A	20						.						44.0	52.0	50.0					20																	61588214		2146	4245	6391	61058659	SO:0001583	missense	63910	exon2			AK027065	CCDS42901.1	20q13.33	2013-07-18	2013-07-18	2009-01-22	ENSG00000101194	ENSG00000101194		"""Solute carriers"""	16192	protein-coding gene	gene with protein product		612107	"""chromosome 20 open reading frame 59"", ""solute carrier family 17, member 9"""	C20orf59		18375752	Standard	NM_022082		Approved	FLJ23412, VNUT	uc002yea.4	Q9BYT1	OTTHUMG00000032951	ENST00000370351.4:c.157C>A	20.37:g.61588214C>A	ENSP00000359376:p.Gln53Lys		61058659	NM_022082	B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	Missense_Mutation	SNP	ENST00000370351.4	37	CCDS42901.1	.	.	.	.	.	.	.	.	.	.	C	3.400	-0.122362	0.06795	.	.	ENSG00000101194	ENST00000370351;ENST00000370349;ENST00000411611	T;T;T	0.57436	0.4;0.4;0.4	4.82	2.76	0.32466	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.104565	0.64402	D	0.000005	T	0.30854	0.0778	N	0.17838	0.53	0.32951	D	0.519763	B;B;B	0.09022	0.001;0.002;0.002	B;B;B	0.12156	0.005;0.007;0.003	T	0.31052	-0.9957	10	0.08179	T	0.78	.	9.2948	0.37808	0.0:0.3288:0.5737:0.0976	.	73;53;47	B4DPU8;Q9BYT1;Q9BYT1-2	.;S17A9_HUMAN;.	K	53;47;73	ENSP00000359376:Q53K;ENSP00000359374:Q47K;ENSP00000388215:Q73K	ENSP00000359374:Q47K	Q	+	1	0	SLC17A9	61058659	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	1.988000	0.40697	1.004000	0.39156	-0.175000	0.13238	CAG		0.652	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080100.1	NM_022082	
IL10RB	3588	broad.mit.edu	37	21	34668592	34668592	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr21:34668592A>C	ENST00000290200.2	+	7	1016	c.908A>C	c.(907-909)gAg>gCg	p.E303A		NM_000628.4	NP_000619.3	Q08334	I10R2_HUMAN	interleukin 10 receptor, beta	303				Missing (in Ref. 2; AAA86872). {ECO:0000305}.	cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.E303A(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						GAAGACTCTGAGAGCGGCAAG	0.532																																					p.E303A	Melanoma(67;315 1275 21667 21943 44564)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A908C	21						.						127.0	117.0	121.0					21																	34668592		2203	4300	6503	33590462	SO:0001583	missense	3588	exon7			U08988	CCDS13623.1	21q22.11	2014-09-17			ENSG00000243646	ENSG00000243646		"""Interleukins and interleukin receptors"", ""CD molecules"""	5965	protein-coding gene	gene with protein product		123889		CRFB4, D21S58, D21S66		8314576, 9312047	Standard	NM_000628		Approved	CRF2-4, CDW210B, IL-10R2		Q08334	OTTHUMG00000065128	ENST00000290200.2:c.908A>C	21.37:g.34668592A>C	ENSP00000290200:p.Glu303Ala		33590462	NM_000628	Q9BUU4	Missense_Mutation	SNP	ENST00000290200.2	37	CCDS13623.1	.	.	.	.	.	.	.	.	.	.	A	13.87	2.365631	0.41902	.	.	ENSG00000243646	ENST00000290200;ENST00000539894	T	0.41065	1.01	4.04	1.55	0.23275	.	3.918870	0.00772	N	0.001215	T	0.43100	0.1232	M	0.74881	2.28	0.09310	N	1	P;P	0.40431	0.717;0.717	B;B	0.35813	0.211;0.211	T	0.30446	-0.9978	10	0.59425	D	0.04	-4.5779	4.1098	0.10053	0.6785:0.2101:0.1114:0.0	.	305;303	Q6ZVU9;Q08334	.;I10R2_HUMAN	A	303	ENSP00000290200:E303A	ENSP00000290200:E303A	E	+	2	0	IL10RB	33590462	0.000000	0.05858	0.001000	0.08648	0.348000	0.29142	0.394000	0.20834	0.224000	0.20940	0.397000	0.26171	GAG		0.532	IL10RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139831.3		
DNAJC28	54943	broad.mit.edu	37	21	34861029	34861029	+	Silent	SNP	T	T	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr21:34861029T>A	ENST00000314399.3	-	2	1110	c.672A>T	c.(670-672)ggA>ggT	p.G224G	DNAJC28_ENST00000402202.1_Silent_p.G224G|DNAJC28_ENST00000381947.3_Silent_p.G224G	NM_017833.3	NP_060303.2	Q9NX36	DJC28_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 28	224								p.G224G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						TCAGAGGTTTTCCTTTCCCAC	0.413																																					p.G224G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A672T	21						.						165.0	164.0	165.0					21																	34861029		2203	4300	6503	33782899	SO:0001819	synonymous_variant	54943	exon2			AK000468	CCDS13626.1	21q22.11	2011-09-02	2008-06-17	2008-06-17	ENSG00000177692	ENSG00000177692		"""Heat shock proteins / DNAJ (HSP40)"""	1297	protein-coding gene	gene with protein product	"""Orf28"""		"""chromosome 21 open reading frame 55"""	C21orf55			Standard	NM_017833		Approved	C21orf78	uc002yrw.3	Q9NX36	OTTHUMG00000065531	ENST00000314399.3:c.672A>T	21.37:g.34861029T>A			33782899	NM_001040192	D3DSF2	Silent	SNP	ENST00000314399.3	37	CCDS13626.1																																																																																				0.413	DNAJC28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140454.3		
HLCS	3141	broad.mit.edu	37	21	38308962	38308962	+	Silent	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr21:38308962A>G	ENST00000399120.1	-	5	2013	c.783T>C	c.(781-783)ggT>ggC	p.G261G	HLCS_ENST00000336648.4_Silent_p.G261G	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	261					biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899)	p.G261G(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	TGTGCAGTGCACCCTTGCTTG	0.542																																					p.G261G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T783C	21						.						75.0	73.0	74.0					21																	38308962		2203	4300	6503	37230832	SO:0001819	synonymous_variant	3141	exon5				CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	"""holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)"", ""holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"""			7842009	Standard	NM_000411		Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.783T>C	21.37:g.38308962A>G			37230832	NM_000411	B2RAH1|D3DSG6|Q99451	Silent	SNP	ENST00000399120.1	37	CCDS13647.1																																																																																				0.542	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194687.2		
PSMG1	8624	broad.mit.edu	37	21	40555246	40555246	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr21:40555246C>T	ENST00000331573.3	-	1	531	c.66G>A	c.(64-66)gaG>gaA	p.E22E	AF129408.17_ENST00000608767.1_RNA|PSMG1_ENST00000380900.2_Silent_p.E22E	NM_001261824.1|NM_003720.3	NP_001248753.1|NP_003711.1	O95456	PSMG1_HUMAN	proteasome (prosome, macropain) assembly chaperone 1	22					cerebellar granule cell precursor proliferation (GO:0021930)|proteasome assembly (GO:0043248)|proteasome core complex assembly (GO:0080129)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)		p.E22E(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	8		Prostate(19;8.44e-08)				cctcctcctcctcttcgtcct	0.692																																					p.E22E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G66A	21						.						26.0	19.0	21.0					21																	40555246		2196	4296	6492	39477116	SO:0001819	synonymous_variant	8624	exon1			AJ006291	CCDS13660.1, CCDS13661.1	21q22.3	2007-10-23	2007-10-23	2007-10-23	ENSG00000183527	ENSG00000183527			3043	protein-coding gene	gene with protein product		605296	"""Down syndrome critical region gene 2"""	DSCR2		10872820, 17189198	Standard	NM_003720		Approved	c21-LRP, LRPC21, PAC1	uc002yxi.4	O95456	OTTHUMG00000066034	ENST00000331573.3:c.66G>A	21.37:g.40555246C>T			39477116	NM_003720	B5BUN2|Q6FHA3|Q6FHD3|Q6S713	Silent	SNP	ENST00000331573.3	37	CCDS13660.1																																																																																				0.692	PSMG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141404.2	NM_003720	
WDR4	10785	broad.mit.edu	37	21	44270306	44270306	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr21:44270306C>T	ENST00000398208.2	-	11	1151	c.1092G>A	c.(1090-1092)acG>acA	p.T364T	WDR4_ENST00000330317.2_Silent_p.T364T|WDR4_ENST00000492742.1_5'UTR	NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5	NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2			WD repeat domain 4									p.T364T(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		CGTTGTCGAACGTGGCCTTGT	0.632																																					p.T364T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1092A	21						.						55.0	54.0	54.0					21																	44270306		2203	4300	6503	43143375	SO:0001819	synonymous_variant	10785	exon11			AJ243912	CCDS13691.1	21q22.3	2013-01-09			ENSG00000160193	ENSG00000160193		"""WD repeat domain containing"""	12756	protein-coding gene	gene with protein product	"""TRM82 tRNA methyltransferase 82 homolog (S. cerevisiae)"""	605924				12403464	Standard	NM_018669		Approved	TRM82, TRMT82	uc002zci.4	P57081	OTTHUMG00000086826	ENST00000398208.2:c.1092G>A	21.37:g.44270306C>T			43143375	NM_033661		Silent	SNP	ENST00000398208.2	37	CCDS13691.1																																																																																				0.632	WDR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195479.1		
TPTE	7179	broad.mit.edu	37	21	10906931	10906931	+	Missense_Mutation	SNP	T	T	C	rs571598993	byFrequency	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr21:10906931T>C	ENST00000361285.4	-	24	1959	c.1630A>G	c.(1630-1632)Agt>Ggt	p.S544G	TPTE_ENST00000342420.5_Missense_Mutation_p.S506G|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Missense_Mutation_p.S526G	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	544					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.S526G(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACAACATCACTGGAAGTCATT	0.388													.|||	2	0.000399361	0.0	0.0	5008	,	,		34621	0.002		0.0	False		,,,				2504	0.0				p.S526G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1576G	21						.						146.0	128.0	134.0					21																	10906931		2203	4300	6503	9928802	SO:0001583	missense	7179	exon23			AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1630A>G	21.37:g.10906931T>C	ENSP00000355208:p.Ser544Gly		9928802	NM_199259	B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	1.686	-0.505249	0.04261	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.94723	-3.35;-3.5;-3.46	1.6	0.408	0.16377	.	.	.	.	.	D	0.82972	0.5153	N	0.08118	0	0.09310	N	1	B;B;B	0.16396	0.0;0.0;0.017	B;B;B	0.09377	0.0;0.0;0.004	T	0.70249	-0.4924	9	0.16896	T	0.51	.	3.2896	0.06944	0.0:0.2443:0.0:0.7557	.	506;526;544	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	G	526;544;506	ENSP00000298232:S526G;ENSP00000355208:S544G;ENSP00000344441:S506G	ENSP00000298232:S526G	S	-	1	0	TPTE	9928802	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	-1.045000	0.03528	0.100000	0.17581	0.155000	0.16302	AGT		0.388	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1		
TTC3	7267	broad.mit.edu	37	21	38555127	38555127	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr21:38555127delA	ENST00000399017.2	+	36	7416	c.4669delA	c.(4669-4671)aaafs	p.K1558fs	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Frame_Shift_Del_p.K1558fs|TTC3_ENST00000354749.2_Frame_Shift_Del_p.K1558fs	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1558					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K1558fs*13(1)		breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				AAGAGAAATTAAAAAATGGCA	0.269																																					p.K1557fs	Ovarian(38;194 1649 35661)											.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.4669delA	21						.						21.0	23.0	22.0					21																	38555127		2164	4280	6444	37476997	SO:0001589	frameshift_variant	7267	exon36			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.4669delA	21.37:g.38555127delA	ENSP00000381981:p.Lys1558fs		37476997	NM_001001894	A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Frame_Shift_Del	DEL	ENST00000399017.2	37	CCDS13651.1																																																																																				0.269	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1		
TRAPPC10	7109	broad.mit.edu	37	21	45518387	45518387	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr21:45518387G>A	ENST00000291574.4	+	21	3493	c.3318G>A	c.(3316-3318)gaG>gaA	p.E1106E		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1106					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)	p.E1106E(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						AATCTGATGAGCATTTTTCGA	0.512																																					p.E1106E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3318A	21						.						113.0	113.0	113.0					21																	45518387		2203	4300	6503	44342815	SO:0001819	synonymous_variant	7109	exon21			U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.3318G>A	21.37:g.45518387G>A			44342815	NM_003274	Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Silent	SNP	ENST00000291574.4	37	CCDS13704.1																																																																																				0.512	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274	
TTC28	23331	broad.mit.edu	37	22	28394584	28394585	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr22:28394584_28394585insC	ENST00000397906.2	-	16	5203_5204	c.5062_5063insG	c.(5062-5064)gagfs	p.E1688fs	TTC28-AS1_ENST00000434221.1_RNA|TTC28-AS1_ENST00000453632.1_RNA|TTC28-AS1_ENST00000435348.1_RNA|TTC28-AS1_ENST00000452612.1_RNA|TTC28-AS1_ENST00000417497.1_RNA|TTC28-AS1_ENST00000433317.1_RNA|TTC28-AS1_ENST00000426594.1_RNA|TTC28-AS1_ENST00000424161.1_RNA|TTC28-AS1_ENST00000454741.1_RNA|TTC28-AS1_ENST00000428584.1_RNA	NM_001145418.1	NP_001138890.1	Q96AY4	TTC28_HUMAN	tetratricopeptide repeat domain 28	1688					mitotic nuclear division (GO:0007067)|regulation of mitotic cell cycle (GO:0007346)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)				endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)	12						CTTCATGGCCTCCCCCAGGGCG	0.634																																					p.E1688fs												.	.	0			c.5063_5064insG	22						.																																			26724585	SO:0001589	frameshift_variant	23331	exon16			AB028966	CCDS46678.1	22q12.1	2013-01-10			ENSG00000100154	ENSG00000100154		"""Tetratricopeptide (TTC) repeat domain containing"""	29179	protein-coding gene	gene with protein product		615098				10470851	Standard	NM_001145418		Approved	KIAA1043	uc003adp.4	Q96AY4	OTTHUMG00000151006	ENST00000397906.2:c.5063dupG	22.37:g.28394589_28394589dupC	ENSP00000381003:p.Glu1688fs		26724584	NM_001145418	K7ZRV2|O95928|O95929|Q5W189|Q9NTE4|Q9UG31|Q9UGG5|Q9UPV8|Q9Y3S5	Frame_Shift_Ins	INS	ENST00000397906.2	37	CCDS46678.1																																																																																				0.634	TTC28-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000320930.2	XM_929318	
CDPF1	150383	broad.mit.edu	37	22	46644085	46644086	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr22:46644085_46644086insG	ENST00000314567.3	-	2	519_520	c.96_97insC	c.(94-99)cccaacfs	p.N33fs	CDPF1_ENST00000475605.1_Intron|CDPF1_ENST00000404583.1_Frame_Shift_Ins_p.N33fs|CDPF1_ENST00000404744.1_Frame_Shift_Ins_p.N33fs	NM_207327.4	NP_997210.3	Q6NVV7	CDPF1_HUMAN	cysteine-rich, DPF motif domain containing 1	33								p.N33fs*>92(2)									GACTGGGTGTTGGGGGGCTTCT	0.589																																					p.N33fs												.	.	2	Insertion - Frameshift(2)	large_intestine(2)	c.97_98insC	22						.			2,4262		0,2,2130						-2.6	0.0			67	0,8254		0,0,4127	no	frameshift	C22orf40	NM_207327.4		0,2,6257	A1A1,A1R,RR		0.0,0.0469,0.016				2,12516				45022750	SO:0001589	frameshift_variant	150383	exon2				CCDS33670.1	22q13.31	2012-07-18	2012-07-18	2012-07-18	ENSG00000205643	ENSG00000205643			33710	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 40"""	C22orf40			Standard	NM_207327		Approved	LOC150383	uc003bhe.3	Q6NVV7	OTTHUMG00000030672	ENST00000314567.3:c.97dupC	22.37:g.46644091_46644091dupG	ENSP00000325301:p.Asn33fs		45022749	NM_207327	A6NCA1|A9IU12|A9IU16|Q3ZCR8	Frame_Shift_Ins	INS	ENST00000314567.3	37	CCDS33670.1																																																																																				0.589	CDPF1-001	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075560.4	NM_207327	
PEX26	55670	broad.mit.edu	37	22	18567926	18567926	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr22:18567926T>C	ENST00000329627.7	+	5	922	c.716T>C	c.(715-717)cTt>cCt	p.L239P	PEX26_ENST00000428061.2_Intron|PEX26_ENST00000399744.3_Missense_Mutation_p.L239P	NM_017929.5	NP_060399.1	Q7Z412	PEX26_HUMAN	peroxisomal biogenesis factor 26	239					protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome membrane (GO:0045046)	integral component of peroxisomal membrane (GO:0005779)|peroxisome (GO:0005777)	ATPase binding (GO:0051117)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)	p.L239P(1)		breast(1)|kidney(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GTTCGCCAGCTTTGGGACTCT	0.542																																					p.L239P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T716C	22						.						148.0	119.0	129.0					22																	18567926		2203	4300	6503	16947926	SO:0001583	missense	55670	exon5			AB089678	CCDS13750.1, CCDS56221.1	22q11.21	2008-08-26	2008-08-26		ENSG00000215193	ENSG00000215193			22965	protein-coding gene	gene with protein product		608666	"""peroxisome biogenesis factor 26"""			12717447, 12851857	Standard	NM_017929		Approved	FLJ20695	uc002znp.4	Q7Z412	OTTHUMG00000149970	ENST00000329627.7:c.716T>C	22.37:g.18567926T>C	ENSP00000331106:p.Leu239Pro		16947926	NM_017929	F6UBB5|Q7Z413|Q7Z414|Q7Z415|Q7Z416|Q96B12|Q9NWQ0|Q9NXU0	Missense_Mutation	SNP	ENST00000329627.7	37	CCDS13750.1	.	.	.	.	.	.	.	.	.	.	T	15.91	2.970977	0.53614	.	.	ENSG00000215193	ENST00000329627;ENST00000399744;ENST00000399746	D;D	0.94687	-3.49;-3.49	5.77	5.77	0.91146	.	0.688973	0.13154	U	0.409593	D	0.95987	0.8693	M	0.68317	2.08	0.35562	D	0.804796	D	0.71674	0.998	D	0.68483	0.958	D	0.95422	0.8508	10	0.39692	T	0.17	-8.5947	8.0964	0.30831	0.0:0.0934:0.0:0.9066	.	239	Q7Z412	PEX26_HUMAN	P	239	ENSP00000331106:L239P;ENSP00000382648:L239P	ENSP00000331106:L239P	L	+	2	0	PEX26	16947926	0.969000	0.33509	0.942000	0.38095	0.901000	0.52897	1.946000	0.40283	2.205000	0.71048	0.533000	0.62120	CTT		0.542	PEX26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314644.3	NM_017929	
DGCR2	9993	broad.mit.edu	37	22	19026486	19026486	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr22:19026486G>A	ENST00000263196.7	-	10	1792	c.1545C>T	c.(1543-1545)agC>agT	p.S515S	DGCR2_ENST00000545799.1_3'UTR|DGCR2_ENST00000537045.1_Silent_p.S474S	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	515					cell adhesion (GO:0007155)|cognition (GO:0050890)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.S515S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					CGAGCAGGGCGCTGCTGCTGT	0.687																																					p.S471S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1413T	22						.						20.0	24.0	22.0					22																	19026486		2202	4297	6499	17406486	SO:0001819	synonymous_variant	9993	exon9			D79985	CCDS33598.1, CCDS54496.1	22q11.21	2008-06-12			ENSG00000070413	ENSG00000070413			2845	protein-coding gene	gene with protein product	"""integral membrane protein DGCR2"""	600594				7655455, 8630060	Standard	NM_005137		Approved	KIAA0163, LAN, IDD, DGS-C, SEZ-12	uc002zoq.1	P98153	OTTHUMG00000150141	ENST00000263196.7:c.1545C>T	22.37:g.19026486G>A			17406486	NM_001173534	A6NIB5|A8K6K5|B5TY34|B7Z935	Silent	SNP	ENST00000263196.7	37	CCDS33598.1																																																																																				0.687	DGCR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316504.1	NM_005137	
GNB1L	54584	broad.mit.edu	37	22	19770479	19770479	+	IGR	SNP	C	C	T	rs41298848		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr22:19770479C>T	ENST00000329517.6	-	0	6706				TBX1_ENST00000359500.3_Silent_p.D351D	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like						G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)		p.D351D(1)		breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					gcttgctggacgtgctcttga	0.582													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18599	0.0		0.0	False		,,,				2504	0.0				p.D351D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1053T	22						.	C		2,4404	4.2+/-10.8	0,2,2201	143.0	133.0	136.0		1053	-2.9	0.0	22	dbSNP_127	136	0,8600		0,0,4300	no	coding-synonymous	TBX1	NM_005992.1		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		351/373	19770479	2,13004	2203	4300	6503	18150479	SO:0001628	intergenic_variant	6899	exon9			AF238328	CCDS13768.1	22q11.2	2013-05-21			ENSG00000185838	ENSG00000185838		"""WD repeat domain containing"""	4397	protein-coding gene	gene with protein product		610778				11072084	Standard	NM_053004		Approved	GY2, WDR14	uc002zqf.1	Q9BYB4	OTTHUMG00000150279		22.37:g.19770479C>T			18150479	NM_005992	Q9H2S2|Q9H4M4	Silent	SNP	ENST00000329517.6	37	CCDS13768.1																																																																																				0.582	GNB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075202.1		
TXNRD2	10587	broad.mit.edu	37	22	19918587	19918587	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr22:19918587G>A	ENST00000400521.1	-	2	144	c.138C>T	c.(136-138)ggC>ggT	p.G46G	TXNRD2_ENST00000400519.1_Silent_p.G45G|TXNRD2_ENST00000400518.1_Silent_p.G16G|TXNRD2_ENST00000542719.1_Silent_p.G16G|TXNRD2_ENST00000491939.1_5'UTR|TXNRD2_ENST00000334363.9_Silent_p.G46G|TXNRD2_ENST00000535882.1_Silent_p.G45G	NM_006440.3	NP_006431.2	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	46					cell redox homeostasis (GO:0045454)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|response to oxygen radical (GO:0000305)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|thioredoxin-disulfide reductase activity (GO:0004791)	p.G46G(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					CAGATCCCCCGCCGACCACCA	0.552																																					p.G46G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C138T	22						.						73.0	81.0	78.0					22																	19918587		1978	4160	6138	18298587	SO:0001819	synonymous_variant	10587	exon2			AF106697	CCDS42981.1, CCDS63402.1	22q11.21	2014-09-17			ENSG00000184470	ENSG00000184470			18155	protein-coding gene	gene with protein product	"""thioredoxin reductase beta"", ""selenoprotein Z"""	606448				9923614, 10215850, 11012661	Standard	NM_006440		Approved	TR, TRXR2, TR3	uc021wlj.1	Q9NNW7	OTTHUMG00000149975	ENST00000400521.1:c.138C>T	22.37:g.19918587G>A			18298587	NM_006440	O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8	Silent	SNP	ENST00000400521.1	37	CCDS42981.1																																																																																				0.552	TXNRD2-003	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000314903.3	NM_006440	
RAB36	9609	broad.mit.edu	37	22	23500190	23500190	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr22:23500190G>A	ENST00000263116.2	+	7	644	c.604G>A	c.(604-606)Gcc>Acc	p.A202T	RAB36_ENST00000341989.4_Missense_Mutation_p.A180T	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	202					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)	p.A202T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		GATCATCACGGCCTTTGACCT	0.617																																					p.A202T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G604A	22						.						179.0	167.0	171.0					22																	23500190		2203	4300	6503	21830190	SO:0001583	missense	9609	exon7			AB023061	CCDS13805.1	22q11.22	2008-06-11			ENSG00000100228	ENSG00000100228		"""RAB, member RAS oncogene"""	9775	protein-coding gene	gene with protein product		605662				9920784, 10591208	Standard	NM_004914		Approved		uc002zwv.1	O95755	OTTHUMG00000150601	ENST00000263116.2:c.604G>A	22.37:g.23500190G>A	ENSP00000263116:p.Ala202Thr		21830190	NM_004914	Q2M390|Q7Z4A9|Q9UHP5	Missense_Mutation	SNP	ENST00000263116.2	37	CCDS13805.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.139263	0.56936	.	.	ENSG00000100228	ENST00000263116;ENST00000341989	T;T	0.79554	-1.28;-1.28	5.37	4.35	0.52113	Small GTP-binding protein domain (1);	0.135164	0.49305	D	0.000159	T	0.64327	0.2588	N	0.11064	0.09	0.44843	D	0.997852	B;B	0.23806	0.091;0.08	B;B	0.24006	0.037;0.05	T	0.63756	-0.6565	10	0.72032	D	0.01	-17.9762	10.1518	0.42799	0.0926:0.0:0.9074:0.0	.	180;202	O95755-2;O95755	.;RAB36_HUMAN	T	202;180	ENSP00000263116:A202T;ENSP00000343494:A180T	ENSP00000263116:A202T	A	+	1	0	RAB36	21830190	0.995000	0.38212	0.970000	0.41538	0.939000	0.58152	4.679000	0.61649	1.405000	0.46838	0.557000	0.71058	GCC		0.617	RAB36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319046.1	NM_004914	
BCR	613	broad.mit.edu	37	22	23627240	23627240	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr22:23627240G>A	ENST00000305877.8	+	10	3009	c.2258G>A	c.(2257-2259)tGc>tAc	p.C753Y	BCR_ENST00000359540.3_Missense_Mutation_p.C753Y	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	753	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.C753Y(1)	BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	CAGTATGACTGCAAATGGTAC	0.557			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""																																p.C753Y			Dom	yes		22	22q11.21	613	breakpoint cluster region		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2258A	22						.						117.0	88.0	98.0					22																	23627240		2203	4300	6503	21957240	SO:0001583	missense	613	exon10				CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.2258G>A	22.37:g.23627240G>A	ENSP00000303507:p.Cys753Tyr		21957240	NM_021574	P78501|Q12842|Q4LE80|Q6NZI3	Missense_Mutation	SNP	ENST00000305877.8	37	CCDS13806.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.353515	0.82243	.	.	ENSG00000186716	ENST00000305877;ENST00000359540;ENST00000334149;ENST00000427791	T;T;T	0.74632	-0.86;-0.86;3.09	5.06	5.06	0.68205	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.108239	0.64402	D	0.000006	D	0.84009	0.5378	M	0.71036	2.16	0.80722	D	1	P;D;D;P;D	0.57257	0.872;0.958;0.958;0.942;0.979	P;P;P;P;P	0.60345	0.756;0.873;0.821;0.786;0.864	D	0.85887	0.1426	10	0.72032	D	0.01	.	17.7948	0.88566	0.0:0.0:1.0:0.0	.	342;418;371;753;753	B4E065;Q12843;Q12844;P11274-2;P11274	.;.;.;.;BCR_HUMAN	Y	753;753;418;237	ENSP00000303507:C753Y;ENSP00000352535:C753Y;ENSP00000396531:C237Y	ENSP00000303507:C753Y	C	+	2	0	BCR	21957240	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.578000	0.82498	2.535000	0.85469	0.655000	0.94253	TGC		0.557	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075819.1	NM_004327	
DRICH1	51233	broad.mit.edu	37	22	23956349	23956349	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr22:23956349T>A	ENST00000317749.5	-	9	891	c.594A>T	c.(592-594)gaA>gaT	p.E198D		NM_016449.3	NP_057533.2	Q6PGQ1	DRIC1_HUMAN		198	Asp-rich.							p.E198D(1)		endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						CTTCTTCTTCTTCATCTTTGT	0.403																																					p.E198D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A594T	22						.						207.0	209.0	208.0					22																	23956349		2014	4187	6201	22286349	SO:0001583	missense	51233	exon9																														ENST00000317749.5:c.594A>T	22.37:g.23956349T>A	ENSP00000316137:p.Glu198Asp		22286349	NM_016449	Q6ICJ8|Q6P4I3|Q9NU31	Missense_Mutation	SNP	ENST00000317749.5	37	CCDS42985.1	.	.	.	.	.	.	.	.	.	.	t	7.605	0.673541	0.14776	.	.	ENSG00000189269	ENST00000317749	T	0.37411	1.2	0.608	-1.22	0.09494	.	.	.	.	.	T	0.26484	0.0647	N	0.08118	0	0.09310	N	1	P	0.49696	0.927	P	0.56563	0.801	T	0.14783	-1.0460	8	0.40728	T	0.16	.	.	.	.	.	198	Q6PGQ1	CV043_HUMAN	D	198	ENSP00000316137:E198D	ENSP00000316137:E198D	E	-	3	2	C22orf43	22286349	0.004000	0.15560	0.001000	0.08648	0.002000	0.02628	0.412000	0.21131	-0.646000	0.05452	-0.909000	0.02823	GAA		0.403	C22orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319708.2		
MYO18B	84700	broad.mit.edu	37	22	26423234	26423234	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr22:26423234G>A	ENST00000407587.2	+	43	7466	c.7297G>A	c.(7297-7299)Gac>Aac	p.D2433N	MYO18B_ENST00000536101.1_Missense_Mutation_p.D2432N|MYO18B_ENST00000335473.7_Missense_Mutation_p.D2432N			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2432						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.D2433N(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCCAAGCCTCGACTACGAACG	0.562																																					p.D2432N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7294A	22						.						116.0	118.0	117.0					22																	26423234		2009	4168	6177	24753234	SO:0001583	missense	84700	exon43			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.7297G>A	22.37:g.26423234G>A	ENSP00000386096:p.Asp2433Asn		24753234	NM_032608	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37		.	.	.	.	.	.	.	.	.	.	G	0.005	-2.196260	0.00299	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.85629	-1.99;-1.99;-2.01	4.26	-6.19	0.02078	.	1.153940	0.06498	N	0.735868	T	0.48114	0.1482	N	0.00347	-1.61	0.09310	N	1	B;B;B;B;B	0.06786	0.001;0.0;0.0;0.001;0.001	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.57545	-0.7793	10	0.02654	T	1	.	7.7555	0.28921	0.284:0.4785:0.2375:0.0	.	1945;2434;2432;2433;2432	Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7	.;.;MY18B_HUMAN;.;.	N	2432;2432;2433	ENSP00000441229:D2432N;ENSP00000334563:D2432N;ENSP00000386096:D2433N	ENSP00000334563:D2432N	D	+	1	0	MYO18B	24753234	0.004000	0.15560	0.000000	0.03702	0.014000	0.08584	0.421000	0.21280	-0.798000	0.04444	-1.036000	0.02392	GAC		0.562	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608	
MTMR3	8897	broad.mit.edu	37	22	30416779	30416779	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr22:30416779C>T	ENST00000401950.2	+	17	3473	c.3131C>T	c.(3130-3132)aCt>aTt	p.T1044I	CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000323630.5_Missense_Mutation_p.T908I|CTA-85E5.10_ENST00000453743.2_RNA|MTMR3_ENST00000351488.3_Missense_Mutation_p.T1044I|MTMR3_ENST00000333027.3_Missense_Mutation_p.T1044I|MTMR3_ENST00000406629.1_Missense_Mutation_p.T1044I	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	1044					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)	p.T1044I(2)		breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			GAAGTAGAAACTTTGAAGAAA	0.537																																					p.T1044I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3131T	22						.						62.0	58.0	59.0					22																	30416779		2203	4300	6503	28746779	SO:0001583	missense	8897	exon17			U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.3131C>T	22.37:g.30416779C>T	ENSP00000384651:p.Thr1044Ile		28746779	NM_153050	A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Missense_Mutation	SNP	ENST00000401950.2	37	CCDS13870.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.385685	0.42308	.	.	ENSG00000100330	ENST00000401950;ENST00000333027;ENST00000323630;ENST00000351488;ENST00000406629	D;D;D;D;D	0.93547	-3.04;-3.04;-3.24;-3.09;-3.04	4.76	3.75	0.43078	.	0.163582	0.53938	N	0.000057	D	0.93321	0.7871	L	0.29908	0.895	0.45139	D	0.998159	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.83275	0.996;0.991;0.996	D	0.91740	0.5403	10	0.32370	T	0.25	.	12.2093	0.54371	0.0:0.918:0.0:0.082	.	1044;1044;1044	Q13615-3;Q13615;Q13615-2	.;MTMR3_HUMAN;.	I	1044;1044;908;1044;1044	ENSP00000384651:T1044I;ENSP00000331649:T1044I;ENSP00000318070:T908I;ENSP00000307271:T1044I;ENSP00000384077:T1044I	ENSP00000318070:T908I	T	+	2	0	MTMR3	28746779	0.612000	0.27000	1.000000	0.80357	0.937000	0.57800	1.225000	0.32551	1.361000	0.45981	0.655000	0.94253	ACT		0.537	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090	
SF3A1	10291	broad.mit.edu	37	22	30735119	30735119	+	Splice_Site	SNP	C	C	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr22:30735119C>A	ENST00000215793.8	-	10	1651	c.1497G>T	c.(1495-1497)aaG>aaT	p.K499N	SF3A1_ENST00000439242.1_Splice_Site_p.K434N	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	499					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.K499N(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						TTAGCCGCACCTTTTCCTCTG	0.517																																					p.K434N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1302T	22						.						287.0	221.0	243.0					22																	30735119		2203	4300	6503	29065119	SO:0001630	splice_region_variant	10291	exon10			X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"""splicing factor 3a, subunit 1, 120kD"""			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.1497+1G>T	22.37:g.30735119C>A			29065119	NM_001005409	E9PAW1	Missense_Mutation	SNP	ENST00000215793.8	37	CCDS13875.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.829544	0.71258	.	.	ENSG00000099995	ENST00000439242;ENST00000215793;ENST00000536049	T;T	0.37058	1.22;1.23	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.63721	0.2535	M	0.78456	2.415	0.80722	D	1	D	0.57899	0.981	D	0.67231	0.95	T	0.64245	-0.6453	10	0.66056	D	0.02	-37.3064	20.3248	0.98698	0.0:1.0:0.0:0.0	.	499	Q15459	SF3A1_HUMAN	N	434;499;396	ENSP00000390336:K434N;ENSP00000215793:K499N	ENSP00000215793:K499N	K	-	3	2	SF3A1	29065119	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.601000	0.82783	2.818000	0.97014	0.655000	0.94253	AAG		0.517	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320916.2	NM_005877	Missense_Mutation
MORC2	22880	broad.mit.edu	37	22	31345789	31345789	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr22:31345789T>C	ENST00000397641.3	-	5	674	c.266A>G	c.(265-267)aAg>aGg	p.K89R	MORC2_ENST00000215862.4_Missense_Mutation_p.K27R			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	89						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.K27R(1)|p.K27T(1)		breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						AGGTGTTCGCTTGGCCGACTT	0.468																																					p.K27R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A80G	22						.						126.0	114.0	118.0					22																	31345789		2203	4300	6503	29675789	SO:0001583	missense	22880	exon6			AB020659	CCDS33636.1	22q12.2	2005-06-15	2005-06-15	2005-06-15	ENSG00000133422	ENSG00000133422			23573	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 1"", ""zinc finger, CW type with coiled-coil domain 1"""	ZCWCC1		14607086	Standard	XM_005261391		Approved	ZCW3, KIAA0852, AC004542.C22.1	uc003aje.1	Q9Y6X9	OTTHUMG00000151193	ENST00000397641.3:c.266A>G	22.37:g.31345789T>C	ENSP00000380763:p.Lys89Arg		29675789	NM_014941	B2RNB1|Q9UF28|Q9Y6V2	Missense_Mutation	SNP	ENST00000397641.3	37		.	.	.	.	.	.	.	.	.	.	T	33	5.273769	0.95459	.	.	ENSG00000133422	ENST00000397641;ENST00000215862	T;T	0.80123	-1.34;-1.34	5.62	5.62	0.85841	ATPase-like, ATP-binding domain (4);	0.000000	0.85682	D	0.000000	D	0.89319	0.6681	M	0.76002	2.32	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.90451	0.4439	10	0.72032	D	0.01	.	15.8169	0.78608	0.0:0.0:0.0:1.0	.	89	Q9Y6X9	MORC2_HUMAN	R	89;27	ENSP00000380763:K89R;ENSP00000215862:K27R	ENSP00000215862:K27R	K	-	2	0	MORC2	29675789	1.000000	0.71417	0.997000	0.53966	0.965000	0.64279	7.698000	0.84413	2.151000	0.67156	0.482000	0.46254	AAG		0.468	MORC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321710.2	NM_014941	
PIK3IP1	113791	broad.mit.edu	37	22	31679235	31679235	+	Silent	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr22:31679235A>G	ENST00000215912.5	-	6	810	c.627T>C	c.(625-627)tgT>tgC	p.C209C	PIK3IP1_ENST00000441972.1_3'UTR|PIK3IP1_ENST00000487265.2_Silent_p.C130C	NM_052880.4	NP_443112.2	Q96FE7	P3IP1_HUMAN	phosphoinositide-3-kinase interacting protein 1	209					negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase catalytic subunit binding (GO:0036313)	p.C209C(1)		large_intestine(2)|lung(1)|ovary(1)	4						TCTCCCTCTCACATACTTTCT	0.488																																					p.C209C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T627C	22						.						118.0	89.0	99.0					22																	31679235		2203	4300	6503	30009235	SO:0001819	synonymous_variant	113791	exon6			BC011049	CCDS13893.1, CCDS46690.1	22q12.2	2007-04-13			ENSG00000100100	ENSG00000100100			24942	protein-coding gene	gene with protein product						12477932	Standard	NM_052880		Approved	HGFL, MGC17330	uc003akm.3	Q96FE7	OTTHUMG00000151256	ENST00000215912.5:c.627T>C	22.37:g.31679235A>G			30009235	NM_052880	B4DRR9|D1MEI0|O00318|Q49A94|Q86YW2|Q8NCJ9	Silent	SNP	ENST00000215912.5	37	CCDS13893.1																																																																																				0.488	PIK3IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321939.1	NM_052880	
PATZ1	23598	broad.mit.edu	37	22	31741209	31741209	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	A	A	A	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr22:31741209A>G	ENST00000266269.5	-	1	1009	c.380T>C	c.(379-381)gTg>gCg	p.V127A	PATZ1_ENST00000215919.3_Missense_Mutation_p.V127A|PATZ1_ENST00000351933.4_Missense_Mutation_p.V127A|PATZ1_ENST00000405309.3_Missense_Mutation_p.V127A|AC005003.1_ENST00000504184.2_5'Flank	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	127	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				male gonad development (GO:0008584)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						CAAGCGCACCACGATGCGGGA	0.592																																					p.V127A												.	.	0			c.T380C	22						.						127.0	129.0	129.0					22																	31741209		2203	4300	6503	30071209	SO:0001583	missense	23598	exon1			AL096880	CCDS13894.1, CCDS13895.1, CCDS13896.1, CCDS46691.1	22q12.2	2013-01-09	2006-09-19	2006-09-19	ENSG00000100105	ENSG00000100105		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13071	protein-coding gene	gene with protein product		605165	"""zinc finger protein 278"""	ZNF278		10591208, 18241078, 18401526	Standard	NM_014323		Approved	MAZR, dJ400N23, ZBTB19, ZSG, RIAZ, PATZ	uc003akq.3	Q9HBE1	OTTHUMG00000151254	ENST00000266269.5:c.380T>C	22.37:g.31741209A>G	ENSP00000266269:p.Val127Ala		30071209	NM_032051	Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Missense_Mutation	SNP	ENST00000266269.5	37	CCDS13894.1	.	.	.	.	.	.	.	.	.	.	A	15.65	2.894841	0.52121	.	.	ENSG00000100105	ENST00000266269;ENST00000405309;ENST00000351933;ENST00000215919	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	4.56	4.56	0.56223	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.140748	0.47455	D	0.000226	T	0.66177	0.2763	N	0.16478	0.41	0.54753	D	0.999983	P;P;D;P	0.69078	0.75;0.6;0.997;0.6	B;B;D;B	0.79108	0.298;0.298;0.992;0.298	T	0.62053	-0.6935	10	0.17369	T	0.5	-14.7291	13.1207	0.59325	1.0:0.0:0.0:0.0	.	127;127;127;127	Q9HBE1-4;Q9HBE1-3;Q9HBE1;Q9HBE1-2	.;.;PATZ1_HUMAN;.	A	127	ENSP00000266269:V127A;ENSP00000384173:V127A;ENSP00000337520:V127A;ENSP00000215919:V127A	ENSP00000215919:V127A	V	-	2	0	PATZ1	30071209	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	5.997000	0.70646	1.698000	0.51180	0.459000	0.35465	GTG		0.592	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321932.1	NM_032052	
EIF4ENIF1	56478	broad.mit.edu	37	22	31837840	31837840	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr22:31837840T>C	ENST00000397525.1	-	17	2694	c.2471A>G	c.(2470-2472)cAc>cGc	p.H824R	EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.H824R|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.H650R|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.H479R|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.H800R|EIF4ENIF1_ENST00000441289.1_5'Flank	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	824						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)	p.H824R(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GTGAAGCTGGTGAGCAGGCCT	0.547																																					p.H824R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2471G	22						.						170.0	142.0	152.0					22																	31837840		2203	4300	6503	30167840	SO:0001583	missense	56478	exon17			AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.2471A>G	22.37:g.31837840T>C	ENSP00000380659:p.His824Arg		30167840	NM_019843	B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Missense_Mutation	SNP	ENST00000397525.1	37	CCDS13898.1	.	.	.	.	.	.	.	.	.	.	T	17.96	3.515559	0.64634	.	.	ENSG00000184708	ENST00000344710;ENST00000397525;ENST00000330125;ENST00000397523;ENST00000382180	.	.	.	6.03	6.03	0.97812	.	0.044227	0.85682	D	0.000000	T	0.74658	0.3745	L	0.59436	1.845	0.53688	D	0.99997	D;D;D;D	0.63880	0.993;0.993;0.993;0.985	D;D;P;P	0.72338	0.977;0.977;0.889;0.715	T	0.70757	-0.4785	9	0.23891	T	0.37	-16.6054	15.7467	0.77949	0.0:0.0:0.0:1.0	.	650;824;649;800	B1AKL3;Q9NRA8;Q9NRA8-2;B1AKL4	.;4ET_HUMAN;.;.	R	650;824;824;800;479	.	ENSP00000328103:H824R	H	-	2	0	EIF4ENIF1	30167840	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.601000	0.67606	2.302000	0.77476	0.533000	0.62120	CAC		0.547	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843	
RFPL2	10739	broad.mit.edu	37	22	32587275	32587275	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr22:32587275G>A	ENST00000400237.1	-	5	1556	c.621C>T	c.(619-621)agC>agT	p.S207S	RFPL2_ENST00000248980.4_Silent_p.S146S|RFPL2_ENST00000400236.3_Silent_p.S117S|RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000248983.4_Silent_p.S117S			O75678	RFPL2_HUMAN	ret finger protein-like 2	207	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)	p.S117S(1)		endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						CACTTCGGACGCTCCTGAGGT	0.532																																					p.S117S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C351T	22						.						130.0	120.0	123.0					22																	32587275		2203	4300	6503	30917275	SO:0001819	synonymous_variant	10739	exon4			AJ010231	CCDS43009.1, CCDS46694.1, CCDS43009.2	22q12.3	2008-06-12				ENSG00000128253		"""RING-type (C3HC4) zinc fingers"""	9979	protein-coding gene	gene with protein product		605969				10508838	Standard	NM_001098527		Approved	RNF79	uc003amg.3	O75678		ENST00000400237.1:c.621C>T	22.37:g.32587275G>A			30917275	NM_001159545		Silent	SNP	ENST00000400237.1	37	CCDS43009.2																																																																																				0.532	RFPL2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075262.2	NM_006605	
LARGE	9215	broad.mit.edu	37	22	34157383	34157383	+	Silent	SNP	A	A	G	rs145861048		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr22:34157383A>G	ENST00000354992.2	-	3	652	c.81T>C	c.(79-81)atT>atC	p.I27I	LARGE_ENST00000437602.2_Silent_p.I27I|LARGE_ENST00000337431.2_Silent_p.I27I|LARGE_ENST00000397394.2_Silent_p.I27I|LARGE_ENST00000402320.1_Silent_p.I27I	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	27					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)	p.I27I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				AAAACAGGTAAATCCAGGTGA	0.498																																					p.I27I	Colon(70;397 1175 4573 19089 45288)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T81C	22						.						149.0	145.0	146.0					22																	34157383		2203	4300	6503	32487383	SO:0001819	synonymous_variant	9215	exon2			AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"""Glycosyltransferase family 8 domain containing"""	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.81T>C	22.37:g.34157383A>G			32487383	NM_133642	B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Silent	SNP	ENST00000354992.2	37	CCDS13912.1																																																																																				0.498	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2	NM_133642	
APOL5	80831	broad.mit.edu	37	22	36122735	36122735	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr22:36122735C>A	ENST00000249044.2	+	3	620	c.620C>A	c.(619-621)cCt>cAt	p.P207H		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	207					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)	p.P207H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						CGACTGGGGCCTCTGACAACA	0.468																																					p.P207H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C620A	22						.						122.0	135.0	130.0					22																	36122735		2203	4300	6503	34452681	SO:0001583	missense	80831	exon3			AY014878	CCDS13920.1	22q12.3	2013-01-24			ENSG00000128313	ENSG00000128313		"""Apolipoproteins"""	14869	protein-coding gene	gene with protein product		607255				11374903	Standard	NM_030642		Approved	APOLV	uc003aof.3	Q9BWW9	OTTHUMG00000150588	ENST00000249044.2:c.620C>A	22.37:g.36122735C>A	ENSP00000249044:p.Pro207His		34452681	NM_030642	Q5TFL9|Q9UGW5	Missense_Mutation	SNP	ENST00000249044.2	37	CCDS13920.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.082269	0.36758	.	.	ENSG00000128313	ENST00000249044	T	0.03607	3.87	3.85	-1.69	0.08186	.	.	.	.	.	T	0.05777	0.0151	M	0.62723	1.935	0.09310	N	1	P	0.38677	0.642	P	0.44422	0.449	T	0.32851	-0.9891	9	0.72032	D	0.01	.	2.0114	0.03489	0.1556:0.5038:0.1517:0.1889	.	207	Q9BWW9	APOL5_HUMAN	H	207	ENSP00000249044:P207H	ENSP00000249044:P207H	P	+	2	0	APOL5	34452681	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.022000	0.13511	-0.153000	0.11137	-0.173000	0.13275	CCT		0.468	APOL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318979.1	NM_030642	
ELFN2	114794	broad.mit.edu	37	22	37770597	37770597	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr22:37770597C>T	ENST00000402918.2	-	3	1763	c.978G>A	c.(976-978)gtG>gtA	p.V326V	RP1-63G5.8_ENST00000609322.1_RNA|ELFN2_ENST00000435824.1_5'Flank|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	326	Fibronectin type-III.				negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)	p.V326V(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					TGTTGTACTGCACGAGGATGT	0.567																																					p.V326V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G978A	22						.						354.0	321.0	332.0					22																	37770597		2203	4300	6503	36100543	SO:0001819	synonymous_variant	114794	exon3			BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	29396	protein-coding gene	gene with protein product			"""leucine rich repeat containing 62"", ""extracellular leucine-rich repeat and fibronectin type III containing 2"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 2"", ""protein phosphatase 1, regulatory subunit 29"""	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.978G>A	22.37:g.37770597C>T			36100543	NM_052906	Q96PY3	Silent	SNP	ENST00000402918.2	37	CCDS33642.1																																																																																				0.567	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	NM_052906	
EIF3L	51386	broad.mit.edu	37	22	38271921	38271921	+	Missense_Mutation	SNP	G	G	A	rs376536658		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr22:38271921G>A	ENST00000412331.2	+	10	1562	c.980G>A	c.(979-981)cGt>cAt	p.R327H	EIF3L_ENST00000381683.6_Missense_Mutation_p.R279H|EIF3L_ENST00000406934.1_Missense_Mutation_p.R229H	NM_016091.3	NP_057175.1			eukaryotic translation initiation factor 3, subunit L									p.R327H(1)		kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TTGATGATGCGTCGTTACCAG	0.478																																					p.R327H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G980A	22						.	G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	206.0	185.0	192.0		836,980	4.7	1.0	22		192	0,8600		0,0,4300	no	missense,missense	EIF3L	NM_001242923.1,NM_016091.3	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	279/517,327/565	38271921	1,13005	2203	4300	6503	36601867	SO:0001583	missense	51386	exon10			AF083243	CCDS13960.1, CCDS56230.1	22q	2012-12-20	2009-01-07	2009-01-07	ENSG00000100129	ENSG00000100129			18138	protein-coding gene	gene with protein product			"""eukaryotic translation initiation factor 3, subunit 6 interacting protein"", ""eukaryotic translation initiation factor 3, subunit E interacting protein"""	EIF3S6IP, EIF3EIP		11042152, 11590142	Standard	NM_016091		Approved	HSPC021, HSPC025, EIF3S11	uc003auf.3	Q9Y262	OTTHUMG00000150671	ENST00000412331.2:c.980G>A	22.37:g.38271921G>A	ENSP00000416892:p.Arg327His		36601867	NM_016091		Missense_Mutation	SNP	ENST00000412331.2	37	CCDS13960.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.093906	0.76870	2.27E-4	0.0	ENSG00000100129	ENST00000412331;ENST00000425539;ENST00000381683;ENST00000262832;ENST00000406934	T;T;T	0.63096	-0.02;-0.02;-0.02	4.74	4.74	0.60224	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.74007	0.3660	M	0.71036	2.16	0.80722	D	1	D;D;P;D	0.60160	0.977;0.987;0.947;0.973	P;P;P;P	0.55785	0.701;0.696;0.529;0.784	T	0.76934	-0.2775	10	0.51188	T	0.08	-6.159	18.1156	0.89553	0.0:0.0:1.0:0.0	.	279;229;327;370	B4DYB2;B0QY90;Q9Y262;B0QY89	.;.;EIF3L_HUMAN;.	H	327;370;279;294;229	ENSP00000416892:R327H;ENSP00000371099:R279H;ENSP00000384634:R229H	ENSP00000262832:R294H	R	+	2	0	EIF3L	36601867	1.000000	0.71417	0.991000	0.47740	0.982000	0.71751	9.683000	0.98657	2.341000	0.79615	0.455000	0.32223	CGT		0.478	EIF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319551.2	NM_016091	
CBY1	25776	broad.mit.edu	37	22	39067122	39067122	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr22:39067122C>T	ENST00000216029.3	+	4	366	c.232C>T	c.(232-234)Cgc>Tgc	p.R78C	RP3-508I15.10_ENST00000423346.1_RNA|RP3-508I15.9_ENST00000431924.2_RNA|RP3-508I15.9_ENST00000444381.1_RNA|RP3-508I15.9_ENST00000422408.2_RNA	NM_015373.3	NP_056188.1	Q9Y3M2	CBY1_HUMAN	chibby homolog 1 (Drosophila)	78	Minimal region for the interaction with PKD2.				cardiac muscle cell differentiation (GO:0055007)|cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|protein localization (GO:0008104)	ciliary basal body (GO:0036064)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	beta-catenin binding (GO:0008013)|identical protein binding (GO:0042802)	p.R78C(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)	4	Melanoma(58;0.04)					TCAGCGCCTTCGCAGGCGGAA	0.537																																					p.R78C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C232T	22						.						112.0	111.0	112.0					22																	39067122		2203	4300	6503	37397068	SO:0001583	missense	25776	exon5			BK005534	CCDS13974.1, CCDS74861.1	22q12	2014-02-06	2007-01-26	2007-01-26	ENSG00000100211	ENSG00000100211			1307	protein-coding gene	gene with protein product	"""chibby CTNNB1-mediated transcription inhibitor"""	607757	"""chromosome 22 open reading frame 2"", ""PKD2 interactor, golgi and endoplasmic reticulum associated 1"""	C22orf2, PGEA1		10591208, 15194699	Standard	NM_015373		Approved	PIGEA14, PIGEA-14, Chibby, Cby	uc003awb.4	Q9Y3M2	OTTHUMG00000150990	ENST00000216029.3:c.232C>T	22.37:g.39067122C>T	ENSP00000216029:p.Arg78Cys		37397068	NM_001002880	B2R4S2|Q66GT6|Q9UIK9	Missense_Mutation	SNP	ENST00000216029.3	37	CCDS13974.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.445038	0.83993	.	.	ENSG00000100211	ENST00000396811;ENST00000216029;ENST00000416285	.	.	.	5.67	5.67	0.87782	.	0.050146	0.85682	D	0.000000	T	0.76681	0.4021	M	0.62723	1.935	0.58432	D	0.999994	D	0.76494	0.999	P	0.62014	0.897	T	0.78112	-0.2331	9	0.87932	D	0	-20.8537	19.7699	0.96359	0.0:1.0:0.0:0.0	.	78	Q9Y3M2	CBY1_HUMAN	C	78	.	ENSP00000216029:R78C	R	+	1	0	CBY1	37397068	1.000000	0.71417	0.987000	0.45799	0.997000	0.91878	3.416000	0.52707	2.680000	0.91292	0.563000	0.77884	CGC		0.537	CBY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320832.1	NM_015373	
MGAT3	4248	broad.mit.edu	37	22	39883522	39883522	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr22:39883522C>T	ENST00000341184.6	+	2	385	c.170C>T	c.(169-171)aCg>aTg	p.T57M		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	57	Pro-rich.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)	p.T57M(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					GCCCCGGTCACGCCCCAGGCC	0.657																																					p.T57M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C170T	22						.						96.0	104.0	101.0					22																	39883522		2203	4300	6503	38213468	SO:0001583	missense	4248	exon1			D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.170C>T	22.37:g.39883522C>T	ENSP00000345270:p.Thr57Met		38213468	NM_001098270	A6NGD0|Q14CK5|Q6IC49|Q9UH32	Missense_Mutation	SNP	ENST00000341184.6	37	CCDS13994.2	.	.	.	.	.	.	.	.	.	.	C	14.64	2.594975	0.46318	.	.	ENSG00000128268	ENST00000341184;ENST00000429402;ENST00000418314	.	.	.	5.03	4.01	0.46588	.	0.380302	0.25590	N	0.029638	T	0.14141	0.0342	N	0.14661	0.345	0.26300	N	0.977991	P	0.46859	0.885	B	0.31686	0.134	T	0.09618	-1.0666	9	0.66056	D	0.02	.	9.8813	0.41236	0.0:0.8425:0.0:0.1575	.	57	Q09327	MGAT3_HUMAN	M	57;57;85	.	ENSP00000345270:T57M	T	+	2	0	MGAT3	38213468	0.996000	0.38824	0.773000	0.31616	0.987000	0.75469	3.334000	0.52097	1.115000	0.41800	0.467000	0.42956	ACG		0.657	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075039.2	NM_002409	
TNRC6B	23112	broad.mit.edu	37	22	40662371	40662371	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr22:40662371C>T	ENST00000454349.2	+	5	2348	c.2137C>T	c.(2137-2139)Cga>Tga	p.R713*	TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000335727.9_Nonsense_Mutation_p.R713*	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	713	Interaction with argonaute proteins.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R727*(1)		breast(1)	1						GGGAGGAGGACGACCTGATGA	0.532																																					p.R713X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2137T	22						.						30.0	32.0	31.0					22																	40662371		1929	4141	6070	38992317	SO:0001587	stop_gained	23112	exon5			AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.2137C>T	22.37:g.40662371C>T	ENSP00000401946:p.Arg713*		38992317	NM_015088	B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Nonsense_Mutation	SNP	ENST00000454349.2	37	CCDS54533.1	.	.	.	.	.	.	.	.	.	.	C	37	6.555179	0.97658	.	.	ENSG00000100354	ENST00000454349;ENST00000400140;ENST00000335727	.	.	.	5.55	3.33	0.38152	.	0.350500	0.30085	N	0.010446	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-5.2574	12.9743	0.58529	0.4104:0.5896:0.0:0.0	.	.	.	.	X	713	.	ENSP00000338371:R713X	R	+	1	2	TNRC6B	38992317	0.993000	0.37304	0.802000	0.32245	0.747000	0.42532	2.955000	0.49121	1.312000	0.45043	0.462000	0.41574	CGA		0.532	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding			
XPNPEP3	63929	broad.mit.edu	37	22	41282452	41282452	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr22:41282452G>A	ENST00000357137.4	+	4	809	c.725G>A	c.(724-726)cGc>cAc	p.R242H	XPNPEP3_ENST00000414396.1_Missense_Mutation_p.R242H|XPNPEP3_ENST00000544094.1_Missense_Mutation_p.R219H|XPNPEP3_ENST00000541156.1_Missense_Mutation_p.R242H	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	242					glomerular filtration (GO:0003094)|protein processing (GO:0016485)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metallopeptidase activity (GO:0008237)	p.R242H(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						CTGATACAGCGCCTCCGGCTG	0.502																																					p.R242H	Ovarian(145;306 1841 7037 21878 30110)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G725A	22						.						96.0	96.0	96.0					22																	41282452		2203	4300	6503	39612398	SO:0001583	missense	63929	exon4				CCDS14007.1, CCDS74869.1	22q13.2	2010-07-20			ENSG00000196236	ENSG00000196236			28052	protein-coding gene	gene with protein product		613553				15708373, 20179356	Standard	NM_022098		Approved	APP3, NPHPL1	uc003azh.3	Q9NQH7	OTTHUMG00000151312	ENST00000357137.4:c.725G>A	22.37:g.41282452G>A	ENSP00000349658:p.Arg242His		39612398	NM_022098	B2R9G1|B7Z790|B7Z7B2|Q6I9V9|Q8NDA6|Q9BV27|Q9BVH0	Missense_Mutation	SNP	ENST00000357137.4	37	CCDS14007.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.611140	0.46631	.	.	ENSG00000196236	ENST00000541156;ENST00000414396;ENST00000357137;ENST00000544094	T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06	5.74	1.32	0.21799	.	0.450566	0.27686	N	0.018262	T	0.52240	0.1722	N	0.04508	-0.205	0.33745	D	0.619923	B;B	0.19935	0.04;0.003	B;B	0.12156	0.007;0.001	T	0.55617	-0.8113	10	0.56958	D	0.05	.	7.1163	0.25418	0.4865:0.0:0.5135:0.0	.	242;242	Q9NQH7-5;Q9NQH7	.;XPP3_HUMAN	H	242;242;242;219	ENSP00000443682:R242H;ENSP00000397110:R242H;ENSP00000349658:R242H;ENSP00000441942:R219H	ENSP00000349658:R242H	R	+	2	0	XPNPEP3	39612398	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	1.942000	0.40243	0.762000	0.33152	0.557000	0.71058	CGC		0.502	XPNPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322201.2	NM_022098	
TEF	7008	broad.mit.edu	37	22	41791797	41791797	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr22:41791797C>T	ENST00000266304.4	+	4	861	c.745C>T	c.(745-747)Cgg>Tgg	p.R249W	TEF_ENST00000406644.3_Missense_Mutation_p.R219W	NM_003216.3	NP_003207.1	Q10587	TEF_HUMAN	thyrotrophic embryonic factor	249	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R249W(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						GGCAGCTAAACGGTCACGGGA	0.582																																					p.R219W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C655T	22						.						85.0	75.0	79.0					22																	41791797		2203	4300	6503	40121743	SO:0001583	missense	7008	exon4				CCDS14014.1, CCDS46716.1	22q13.2	2013-01-10			ENSG00000167074	ENSG00000167074		"""basic leucine zipper proteins"""	11722	protein-coding gene	gene with protein product		188595				7835883, 15665112	Standard	NM_001145398		Approved	KIAA1655	uc003azy.4	Q10587	OTTHUMG00000150968	ENST00000266304.4:c.745C>T	22.37:g.41791797C>T	ENSP00000266304:p.Arg249Trp		40121743	NM_001145398	B0QYS8|B2RC22|Q15729|Q7Z3J7|Q8IU94|Q96TG4	Missense_Mutation	SNP	ENST00000266304.4	37	CCDS14014.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.844948	0.91197	.	.	ENSG00000167074	ENST00000406644;ENST00000433913;ENST00000266304	T;T	0.54279	0.58;0.58	5.8	4.78	0.61160	Basic-leucine zipper (bZIP) transcription factor (2);Basic leucine zipper (1);	0.000000	0.85682	D	0.000000	T	0.80904	0.4713	H	0.95574	3.69	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.87415	0.2378	10	0.87932	D	0	-21.9914	16.2154	0.82211	0.1341:0.8659:0.0:0.0	.	254;249;219	B4DIH3;Q10587;Q10587-2	.;TEF_HUMAN;.	W	219;219;249	ENSP00000385256:R219W;ENSP00000266304:R249W	ENSP00000266304:R249W	R	+	1	2	TEF	40121743	1.000000	0.71417	0.979000	0.43373	0.859000	0.49053	4.597000	0.61062	1.444000	0.47605	0.563000	0.77884	CGG		0.582	TEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320692.1	NM_003216	
SREBF2	6721	broad.mit.edu	37	22	42273351	42273351	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr22:42273351A>G	ENST00000361204.4	+	8	1671	c.1505A>G	c.(1504-1506)cAg>cGg	p.Q502R		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	502					cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q502R(1)		NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						TCCCTGCTGCAGTGGGGAGGG	0.622																																					p.Q502R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1505G	22						.						96.0	93.0	94.0					22																	42273351		2203	4300	6503	40603297	SO:0001583	missense	6721	exon8			U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"""Basic helix-loop-helix proteins"""	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.1505A>G	22.37:g.42273351A>G	ENSP00000354476:p.Gln502Arg		40603297	NM_004599	Q05BD5|Q6GTH7|Q86V36|Q9UH04	Missense_Mutation	SNP	ENST00000361204.4	37	CCDS14023.1	.	.	.	.	.	.	.	.	.	.	A	11.82	1.753473	0.31046	.	.	ENSG00000198911	ENST00000361204;ENST00000444813;ENST00000457567	T	0.53423	0.62	6.05	1.63	0.23807	.	0.654317	0.16353	N	0.218117	T	0.36220	0.0959	L	0.40543	1.245	0.09310	N	0.999995	B	0.02656	0.0	B	0.04013	0.001	T	0.21586	-1.0241	10	0.39692	T	0.17	-1.6125	9.6306	0.39776	0.7423:0.0:0.2577:0.0	.	502	Q12772	SRBP2_HUMAN	R	502	ENSP00000354476:Q502R	ENSP00000354476:Q502R	Q	+	2	0	SREBF2	40603297	0.283000	0.24277	0.057000	0.19452	0.939000	0.58152	1.437000	0.34991	-0.034000	0.13713	0.519000	0.50382	CAG		0.622	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599	
POLDIP3	84271	broad.mit.edu	37	22	42988074	42988074	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr22:42988074C>T	ENST00000252115.5	-	7	1012	c.908G>A	c.(907-909)tGt>tAt	p.C303Y	POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000451060.2_Missense_Mutation_p.C147Y|POLDIP3_ENST00000339677.6_Intron|POLDIP3_ENST00000348657.2_Missense_Mutation_p.C274Y	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3	303	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				poly(A)+ mRNA export from nucleus (GO:0016973)|positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.C303Y(1)		biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						GAGGGCCCCACACACACAGAA	0.552																																					p.C274Y	Ovarian(52;967 1128 5875 19997 42537)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G821A	22						.						131.0	120.0	124.0					22																	42988074		2203	4300	6503	41318018	SO:0001583	missense	84271	exon6				CCDS14038.1, CCDS14039.1, CCDS74873.1	22q13.31	2013-02-12			ENSG00000100227	ENSG00000100227		"""RNA binding motif (RRM) containing"""	23782	protein-coding gene	gene with protein product		611520				12522211	Standard	NM_032311		Approved	PDIP46, KIAA1649	uc003bcu.3	Q9BY77	OTTHUMG00000150887	ENST00000252115.5:c.908G>A	22.37:g.42988074C>T	ENSP00000252115:p.Cys303Tyr		41318018	NM_178136	A8K6F8|A8K6V9|Q009A7|Q5H972|Q6PGN6|Q7Z6Z0|Q9NSP5|Q9NSP6	Missense_Mutation	SNP	ENST00000252115.5	37	CCDS14038.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.513166	0.85389	.	.	ENSG00000100227	ENST00000348657;ENST00000252115;ENST00000451060	T;T;T	0.13196	2.61;2.61;2.61	6.08	6.08	0.98989	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.22936	0.0554	N	0.10733	0.035	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.999;0.997;0.999	D;D;D;D	0.91635	0.999;0.998;0.987;0.998	T	0.28073	-1.0055	10	0.72032	D	0.01	-11.5197	20.6634	0.99662	0.0:1.0:0.0:0.0	.	320;299;274;303	B4E0L0;Q96DI9;Q9BY77-2;Q9BY77	.;.;.;PDIP3_HUMAN	Y	274;303;147	ENSP00000252116:C274Y;ENSP00000252115:C303Y;ENSP00000397927:C147Y	ENSP00000252115:C303Y	C	-	2	0	POLDIP3	41318018	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.682000	0.68182	2.894000	0.99253	0.655000	0.94253	TGT		0.552	POLDIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320433.1	NM_032311	
ARFGAP3	26286	broad.mit.edu	37	22	43204826	43204826	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr22:43204826T>C	ENST00000263245.5	-	13	1486	c.1267A>G	c.(1267-1269)Aat>Gat	p.N423D	ARFGAP3_ENST00000437119.2_Missense_Mutation_p.N379D|ARFGAP3_ENST00000429508.2_Missense_Mutation_p.N351D	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	423					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|protein secretion (GO:0009306)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)	p.N423D(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						GCCTTGACATTGCCAAACTTC	0.443																																					p.N423D	GBM(58;544 1030 21460 27159 48838)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1267G	22						.						179.0	163.0	168.0					22																	43204826		2203	4300	6503	41534770	SO:0001583	missense	26286	exon13			AK002083	CCDS14042.1, CCDS46722.1	22q13.2	2009-11-30	2002-08-20	2002-08-23	ENSG00000242247	ENSG00000242247		"""ADP-ribosylation factor GTPase activating proteins"""	661	protein-coding gene	gene with protein product		612439	"""ADP-ribosylation factor GTPase activating protein 1"""	ARFGAP1		10704287, 11172815	Standard	NM_014570		Approved		uc003bdd.2	Q9NP61	OTTHUMG00000150718	ENST00000263245.5:c.1267A>G	22.37:g.43204826T>C	ENSP00000263245:p.Asn423Asp		41534770	NM_014570	E9PB03|Q9BSC6|Q9H9J0|Q9NT10|Q9NUP5|Q9Y4V3|Q9Y4V4	Missense_Mutation	SNP	ENST00000263245.5	37	CCDS14042.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.25|13.25	2.180249|2.180249	0.38511|0.38511	.|.	.|.	ENSG00000242247|ENSG00000242247	ENST00000263245;ENST00000429508;ENST00000437119|ENST00000453516	T;T;T|.	0.08008|.	3.3;3.14;3.25|.	4.82|4.82	3.71|3.71	0.42584|0.42584	.|.	0.114184|.	0.64402|.	D|.	0.000017|.	T|T	0.72653|0.72653	0.3487|0.3487	M|M	0.80422|0.80422	2.495|2.495	0.38676|0.38676	D|D	0.95241|0.95241	B;D|.	0.76494|.	0.008;0.999|.	B;D|.	0.79784|.	0.016;0.993|.	T|T	0.76208|0.76208	-0.3043|-0.3043	10|5	0.38643|.	T|.	0.18|.	-40.7799|-40.7799	10.2756|10.2756	0.43507|0.43507	0.0:0.0:0.1659:0.8341|0.0:0.0:0.1659:0.8341	.|.	379;423|.	E9PB03;Q9NP61|.	.;ARFG3_HUMAN|.	D|R	423;351;379|225	ENSP00000263245:N423D;ENSP00000393959:N351D;ENSP00000388791:N379D|.	ENSP00000263245:N423D|.	N|Q	-|-	1|2	0|0	ARFGAP3|ARFGAP3	41534770|41534770	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	2.553000|2.553000	0.45837|0.45837	1.795000|1.795000	0.52594|0.52594	0.460000|0.460000	0.39030|0.39030	AAT|CAA		0.443	ARFGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319747.2	NM_014570	
ATXN10	25814	broad.mit.edu	37	22	46239016	46239016	+	Silent	SNP	C	C	T	rs147304403		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr22:46239016C>T	ENST00000252934.5	+	11	1648	c.1383C>T	c.(1381-1383)ggC>ggT	p.G461G	ATXN10_ENST00000402380.3_Silent_p.G112G|ATXN10_ENST00000381061.4_Silent_p.G397G	NM_013236.3	NP_037368.1	Q9UBB4	ATX10_HUMAN	ataxin 10	461					cell death (GO:0008219)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)		p.G461G(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		AAAAGAAAGGCGAAAAGCTGA	0.443																																					p.G397G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1191T	22						.	C	,	0,4406		0,0,2203	85.0	88.0	87.0		1191,1383	-3.1	0.8	22	dbSNP_134	87	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ATXN10	NM_001167621.1,NM_013236.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	397/412,461/476	46239016	1,13005	2203	4300	6503	44617680	SO:0001819	synonymous_variant	25814	exon10			AK095309	CCDS14070.1, CCDS54540.1	22q13	2013-02-15	2004-08-12	2004-08-12	ENSG00000130638	ENSG00000130638		"""Ataxins"""	10549	protein-coding gene	gene with protein product		611150	"""spinocerebellar ataxia 10"""	SCA10		9973298	Standard	NM_013236		Approved	E46L, FLJ37990	uc003bgm.2	Q9UBB4	OTTHUMG00000150451	ENST00000252934.5:c.1383C>T	22.37:g.46239016C>T			44617680	NM_001167621	A6NLC4|B4DG05|O14998|O15009|Q6I9X4	Silent	SNP	ENST00000252934.5	37	CCDS14070.1																																																																																				0.443	ATXN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318142.2	NM_013236	
CRELD2	79174	broad.mit.edu	37	22	50319098	50319098	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr22:50319098G>T	ENST00000328268.4	+	9	976	c.902G>T	c.(901-903)tGt>tTt	p.C301F	CRELD2_ENST00000407217.3_Missense_Mutation_p.C269F|CRELD2_ENST00000404488.3_Missense_Mutation_p.C350F|CRELD2_ENST00000403427.3_Missense_Mutation_p.C273F	NM_024324.3	NP_077300.3	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2	301	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)	p.C301F(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		GAAAAAACCTGTGTGAGGAAA	0.468																																					p.C301F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G902T	22						.						115.0	114.0	114.0					22																	50319098		2203	4300	6503	48705102	SO:0001583	missense	79174	exon9			BC050675	CCDS14082.1, CCDS46730.1, CCDS63515.1, CCDS63516.1	22q13.33	2005-12-08			ENSG00000184164	ENSG00000184164			28150	protein-coding gene	gene with protein product		607171				12137942	Standard	XM_005261737		Approved	MGC11256	uc010hal.2	Q6UXH1	OTTHUMG00000150292	ENST00000328268.4:c.902G>T	22.37:g.50319098G>T	ENSP00000332223:p.Cys301Phe		48705102	NM_024324	A5GZA2|A5GZA3|A5GZA4|A5GZA5|A5GZA6|Q4W0V0|Q86UC0|Q9BU47	Missense_Mutation	SNP	ENST00000328268.4	37	CCDS14082.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.665802	0.67700	.	.	ENSG00000184164	ENST00000404488;ENST00000328268;ENST00000407217;ENST00000403427	D;D;D;D	0.99445	-5.91;-5.91;-5.91;-5.91	4.48	4.48	0.54585	EGF-like calcium-binding, conserved site (1);Growth factor, receptor (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	D	0.99632	0.9865	M	0.93283	3.4	0.53688	D	0.999974	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;0.999;1.0	D	0.97582	1.0111	10	0.87932	D	0	.	15.9823	0.80121	0.0:0.0:1.0:0.0	.	269;350;273;301;301	Q6UXH1-2;Q6UXH1-5;Q6UXH1-4;A5GZA6;Q6UXH1	.;.;.;.;CREL2_HUMAN	F	350;301;269;273	ENSP00000383938:C350F;ENSP00000332223:C301F;ENSP00000386034:C269F;ENSP00000384111:C273F	ENSP00000332223:C301F	C	+	2	0	CRELD2	48705102	1.000000	0.71417	0.007000	0.13788	0.003000	0.03518	7.588000	0.82629	2.056000	0.61249	0.632000	0.83419	TGT		0.468	CRELD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317409.1	NM_024324	
SBF1	6305	broad.mit.edu	37	22	50903104	50903104	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr22:50903104G>A	ENST00000390679.3	-	14	1679	c.1495C>T	c.(1495-1497)Cga>Tga	p.R499*	SBF1_ENST00000380817.3_Nonsense_Mutation_p.R499*|SBF1_ENST00000348911.6_Nonsense_Mutation_p.R500*			O95248	MTMR5_HUMAN	SET binding factor 1	499					cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R499*(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GGCACCCGTCGCAGGTGGCTG	0.687																																					p.R499X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1495T	22						.						58.0	66.0	63.0					22																	50903104		2003	4167	6170	49249970	SO:0001587	stop_gained	6305	exon14			U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.1495C>T	22.37:g.50903104G>A	ENSP00000375097:p.Arg499*		49249970	NM_002972	A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Nonsense_Mutation	SNP	ENST00000390679.3	37		.	.	.	.	.	.	.	.	.	.	G	37	6.156044	0.97334	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000356279;ENST00000337034;ENST00000390679	.	.	.	4.32	3.29	0.37713	.	0.226724	0.35838	N	0.002956	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3071	0.60359	0.0:0.0:0.8407:0.1593	.	.	.	.	X	499;500;510;509;499	.	ENSP00000336522:R509X	R	-	1	2	SBF1	49249970	1.000000	0.71417	0.994000	0.49952	0.272000	0.26649	4.092000	0.57707	1.020000	0.39573	0.313000	0.20887	CGA		0.687	SBF1-201	KNOWN	basic	protein_coding	protein_coding			
RBM44	375316	broad.mit.edu	37	2	238725989	238725990	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	-	-	-	T	-	-	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:238725989_238725990insT	ENST00000409864.1	+	3	684_685	c.430_431insT	c.(430-432)gttfs	p.V144fs	RBM44_ENST00000316997.4_Frame_Shift_Ins_p.V144fs|RBM44_ENST00000444524.2_Intron			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	143						cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)	p.N147fs*1(2)		breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		AAAAGAGGAGGTTTTTTTTAAT	0.307																																					p.V144fs												.	.	2	Insertion - Frameshift(2)	large_intestine(2)	c.430_431insT	2						.																																			238390729	SO:0001589	frameshift_variant	375316	exon3			AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"""RNA binding motif (RRM) containing"""	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.438dupT	2.37:g.238725997_238725997dupT	ENSP00000386727:p.Val144fs		238390728	NM_001080504	A0AUW3	Frame_Shift_Ins	INS	ENST00000409864.1	37	CCDS46554.1																																																																																				0.307	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328733.2	NM_001080504	
DOK1	1796	broad.mit.edu	37	2	74782458	74782459	+	Frame_Shift_Ins	INS	-	-	C	rs200525020		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	-	-	-	C	-	-	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:74782458_74782459insC	ENST00000233668.5	+	2	907_908	c.238_239insC	c.(238-240)accfs	p.T80fs	LOXL3_ENST00000264094.3_5'Flank|LOXL3_ENST00000484369.1_5'Flank|LOXL3_ENST00000393937.2_5'Flank|LOXL3_ENST00000409986.1_5'Flank|DOK1_ENST00000480318.1_3'UTR|DOK1_ENST00000340004.6_Frame_Shift_Ins_p.T80fs|M1AP_ENST00000464686.1_5'Flank|LOXL3_ENST00000409549.1_5'Flank|LOXL3_ENST00000409249.1_5'Flank|DOK1_ENST00000409429.1_5'UTR	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN	docking protein 1, 62kDa (downstream of tyrosine kinase 1)	80	PH.				cell surface receptor signaling pathway (GO:0007166)|insulin receptor signaling pathway (GO:0008286)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor signaling protein activity (GO:0005057)	p.E83fs*1(1)		endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						CACCGTGGAGACCCCCCCTGAG	0.718																																					p.T80fs	Esophageal Squamous(36;520 860 12502 33616 51270)											.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.238_239insC	2						.																																			74635967	SO:0001589	frameshift_variant	1796	exon2			U70987	CCDS1954.1, CCDS56125.1	2p13	2008-05-21	2002-08-29		ENSG00000115325	ENSG00000115325			2990	protein-coding gene	gene with protein product		602919	"""docking protein 1, 62kD (downstream of tyrosine kinase 1)"""			9008160, 9790776, 15546884	Standard	NM_001381		Approved	p62dok	uc002sms.3	Q99704	OTTHUMG00000129956	ENST00000233668.5:c.245dupC	2.37:g.74782465_74782465dupC	ENSP00000233668:p.Thr80fs		74635966	NM_001381	O43204|Q53TY2|Q9UHG6	Frame_Shift_Ins	INS	ENST00000233668.5	37	CCDS1954.1																																																																																				0.718	DOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252218.3	NM_001381	
IL1RL1	9173	broad.mit.edu	37	2	102955310	102955310	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:102955310G>T	ENST00000233954.1	+	3	346	c.75G>T	c.(73-75)tgG>tgT	p.W25C	IL1RL1_ENST00000311734.2_Missense_Mutation_p.W25C|IL1RL1_ENST00000473175.1_3'UTR|IL1RL1_ENST00000393393.3_Missense_Mutation_p.W25C|IL1RL1_ENST00000409584.1_Missense_Mutation_p.W25C|IL1RL1_ENST00000404917.2_Intron	NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	25	Ig-like C2-type 1.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of macrophage activation (GO:0043032)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|interleukin-1 receptor activity (GO:0004908)|interleukin-33 receptor activity (GO:0002114)|receptor signaling protein activity (GO:0005057)	p.W25C(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						AACAATCATGGGGCCTGGAAA	0.328																																					p.W25C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G75T	2						.						92.0	92.0	92.0					2																	102955310		2203	4300	6503	102321742	SO:0001583	missense	9173	exon3			D12764	CCDS2057.1, CCDS2058.1, CCDS74548.1	2q12	2013-01-29			ENSG00000115602	ENSG00000115602		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5998	protein-coding gene	gene with protein product	"""homolog of mouse growth stimulation-expressed"""	601203				1482686, 10191101, 16286016	Standard	NM_016232		Approved	ST2, FIT-1, ST2L, ST2V, DER4, T1, IL33R	uc002tbu.1	Q01638	OTTHUMG00000130782	ENST00000233954.1:c.75G>T	2.37:g.102955310G>T	ENSP00000233954:p.Trp25Cys		102321742	NM_003856	A8K6B3|B4E0I3|Q53TU7|Q8NEJ3|Q9ULV7|Q9UQ44	Missense_Mutation	SNP	ENST00000233954.1	37	CCDS2057.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.400375	0.42613	.	.	ENSG00000115602	ENST00000233954;ENST00000393393;ENST00000447231;ENST00000311734;ENST00000409584	T;T;T;T	0.72942	0.2;2.48;-0.7;2.6	6.03	3.15	0.36227	.	1.194580	0.05879	N	0.626107	T	0.77425	0.4128	L	0.57536	1.79	0.09310	N	0.999998	D;D	0.71674	0.998;0.98	P;P	0.59703	0.862;0.792	T	0.60084	-0.7332	10	0.40728	T	0.16	.	6.2219	0.20685	0.1632:0.0:0.6844:0.1524	.	25;25	Q01638-2;Q01638	.;ILRL1_HUMAN	C	25	ENSP00000233954:W25C;ENSP00000377052:W25C;ENSP00000310371:W25C;ENSP00000386618:W25C	ENSP00000233954:W25C	W	+	3	0	IL1RL1	102321742	0.850000	0.29656	0.127000	0.21898	0.151000	0.21798	1.365000	0.34182	1.563000	0.49615	-0.140000	0.14226	TGG		0.328	IL1RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253296.1	NM_016232	
UXS1	80146	broad.mit.edu	37	2	106761714	106761714	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:106761714T>G	ENST00000409501.3	-	6	446	c.389A>C	c.(388-390)gAg>gCg	p.E130A	UXS1_ENST00000283148.7_Missense_Mutation_p.E135A|UXS1_ENST00000428048.2_Intron|UXS1_ENST00000540130.1_Missense_Mutation_p.E73A|UXS1_ENST00000479621.1_5'UTR			Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	130					protein tetramerization (GO:0051262)|UDP-D-xylose biosynthetic process (GO:0033320)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|UDP-glucuronate decarboxylase activity (GO:0048040)	p.E130A(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						GATCCAGTGCTCCACGTTTCT	0.517																																					p.E130A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A389C	2						.						105.0	105.0	105.0					2																	106761714		2022	4166	6188	106128146	SO:0001583	missense	80146	exon6			AK027244	CCDS46378.1, CCDS58720.1, CCDS58721.1	2q12.2	2012-02-22			ENSG00000115652	ENSG00000115652	4.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	17729	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 6E, member 12"""	609749				19027726	Standard	NM_001253875		Approved	FLJ23591, UGD, SDR6E1	uc002tdn.3	Q8NBZ7	OTTHUMG00000153150	ENST00000409501.3:c.389A>C	2.37:g.106761714T>G	ENSP00000387019:p.Glu130Ala		106128146	NM_025076	Q8NBX3|Q9H5C2	Missense_Mutation	SNP	ENST00000409501.3	37	CCDS46378.1	.	.	.	.	.	.	.	.	.	.	T	15.13	2.742322	0.49151	.	.	ENSG00000115652	ENST00000283148;ENST00000540130;ENST00000409501;ENST00000457835	D;D;D;D	0.93189	-3.18;-3.18;-3.18;-3.18	5.84	5.84	0.93424	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.83603	0.5290	N	0.02708	-0.52	0.80722	D	1	B;B	0.20052	0.033;0.041	B;B	0.25291	0.035;0.059	T	0.80127	-0.1512	10	0.10636	T	0.68	-10.8348	16.2141	0.82191	0.0:0.0:0.0:1.0	.	135;130	Q8NBZ7-2;Q8NBZ7	.;UXS1_HUMAN	A	135;73;130;73	ENSP00000283148:E135A;ENSP00000438265:E73A;ENSP00000387019:E130A;ENSP00000399316:E73A	ENSP00000283148:E135A	E	-	2	0	UXS1	106128146	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.665000	0.83852	2.230000	0.72887	0.528000	0.53228	GAG		0.517	UXS1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329778.1	NM_025076.3	
PAX8	7849	broad.mit.edu	37	2	113999286	113999286	+	Silent	SNP	G	G	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:113999286G>T	ENST00000429538.3	-	7	813	c.619C>A	c.(619-621)Cga>Aga	p.R207R	PAX8_ENST00000397647.3_Silent_p.R207R|AC016683.6_ENST00000456685.1_RNA|AC016683.6_ENST00000437551.1_RNA|RP11-65I12.1_ENST00000553319.1_RNA|AC016683.6_ENST00000436293.2_RNA|AC016683.6_ENST00000445745.1_RNA|AC016683.6_ENST00000556070.1_RNA|AC016683.6_ENST00000333145.5_RNA|PAX8_ENST00000263334.5_Silent_p.R207R|AC016683.6_ENST00000422956.2_RNA|PAX8_ENST00000263335.7_Silent_p.R207R|PAX8_ENST00000348715.5_Silent_p.R207R|AC016683.6_ENST00000451179.1_RNA|AC016683.6_ENST00000553869.2_RNA	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	207					anatomical structure morphogenesis (GO:0009653)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular response to gonadotropin stimulus (GO:0071371)|central nervous system development (GO:0007417)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesonephros development (GO:0001823)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric nephron tubule formation (GO:0072289)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|otic vesicle development (GO:0071599)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|regulation of apoptotic process (GO:0042981)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of thyroid-stimulating hormone secretion (GO:2000612)|thyroid gland development (GO:0030878)|thyroid-stimulating hormone signaling pathway (GO:0038194)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid-stimulating hormone receptor activity (GO:0004996)|transcription regulatory region DNA binding (GO:0044212)	p.R207R(1)	PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						ATGCTTAGTCGGCAGCTATCC	0.567			T	PPARG	follicular thyroid		Thyroid dysgenesis																														p.R207R	Ovarian(188;7 2067 9084 29802 29892)		Dom	yes		2	2q12-q14	7849	paired box gene 8	yes	E	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C619A	2						.						70.0	76.0	74.0					2																	113999286		2100	4236	6336	113715756	SO:0001819	synonymous_variant	7849	exon7			X69699	CCDS42735.1, CCDS42736.1, CCDS46398.1, CCDS46399.1	2q13	2011-06-20	2007-07-12		ENSG00000125618	ENSG00000125618		"""Paired boxes"", ""Homeoboxes / PRD class"""	8622	protein-coding gene	gene with protein product		167415	"""paired box gene 8"""			8431641, 7981748	Standard	NM_003466		Approved		uc010yxt.2	Q06710	OTTHUMG00000128529	ENST00000429538.3:c.619C>A	2.37:g.113999286G>T			113715756	NM_013953	Q09155|Q16337|Q16338|Q16339|Q4ZG35|Q96J49	Silent	SNP	ENST00000429538.3	37	CCDS46398.1																																																																																				0.567	PAX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250353.5		
CLASP1	23332	broad.mit.edu	37	2	122104703	122104703	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:122104703G>A	ENST00000263710.4	-	39	4830	c.4441C>T	c.(4441-4443)Cgt>Tgt	p.R1481C	CLASP1_ENST00000455322.2_Missense_Mutation_p.R1437C|CLASP1_ENST00000409078.3_Missense_Mutation_p.R1414C|CLASP1_ENST00000541377.1_Missense_Mutation_p.R1420C|CLASP1_ENST00000541859.1_Missense_Mutation_p.R1198C|CLASP1_ENST00000397587.3_Missense_Mutation_p.R1421C|CLASP1_ENST00000545861.1_Missense_Mutation_p.R1188C	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1481	Interaction with CLIP2. {ECO:0000250}.|Interaction with PHLDB2 and RSN.|Localization to kinetochores.				axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					CTGGCCTTACGCACACTACTT	0.458																																					p.R1414C												.	.	0			c.C4240T	2						.						81.0	78.0	79.0					2																	122104703		2041	4180	6221	121821173	SO:0001583	missense	23332	exon37			AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.4441C>T	2.37:g.122104703G>A	ENSP00000263710:p.Arg1481Cys		121821173	NM_001142274	B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	ENST00000263710.4	37		.	.	.	.	.	.	.	.	.	.	G	17.35	3.368026	0.61513	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861	T;T;T;T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62;-0.62;-0.62;-0.62	5.59	5.59	0.84812	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.86070	0.5845	M	0.88775	2.98	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.993;0.998;0.997	D	0.88266	0.2926	10	0.87932	D	0	-14.656	14.2788	0.66199	0.0:0.0:0.852:0.148	.	1414;1421;1481	E7EUA5;F5GWS0;Q7Z460	.;.;CLAP1_HUMAN	C	1481;1437;1421;1420;1198;1414;1188	ENSP00000263710:R1481C;ENSP00000389372:R1437C;ENSP00000380717:R1421C;ENSP00000441625:R1420C;ENSP00000441770:R1198C;ENSP00000386442:R1414C;ENSP00000438620:R1188C	ENSP00000263710:R1481C	R	-	1	0	CLASP1	121821173	1.000000	0.71417	0.988000	0.46212	0.227000	0.25037	4.306000	0.59117	2.631000	0.89168	0.561000	0.74099	CGT		0.458	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282	
IMP4	92856	broad.mit.edu	37	2	131103669	131103669	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:131103669G>A	ENST00000259239.3	+	7	1381	c.673G>A	c.(673-675)Gac>Aac	p.D225N	IMP4_ENST00000409935.1_Missense_Mutation_p.D225N	NM_033416.1	NP_219484.1	Q96G21	IMP4_HUMAN	IMP4, U3 small nucleolar ribonucleoprotein	225	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.				rRNA processing (GO:0006364)	nucleolus (GO:0005730)|ribonucleoprotein complex (GO:0030529)		p.D225N(1)		central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	18	Colorectal(110;0.1)					AAACCAGGACGACTACATATC	0.582																																					p.D225N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G673A	2						.						117.0	114.0	115.0					2																	131103669		2203	4300	6503	130820139	SO:0001583	missense	92856	exon7			BC010042	CCDS2160.1	2q21.1	2014-02-19	2014-02-19		ENSG00000136718	ENSG00000136718			30856	protein-coding gene	gene with protein product		612981	"""IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast)"""			8619474, 9110174, 12655004	Standard	NM_033416		Approved	MGC19606, BXDC4	uc002tra.1	Q96G21	OTTHUMG00000131627	ENST00000259239.3:c.673G>A	2.37:g.131103669G>A	ENSP00000259239:p.Asp225Asn		130820139	NM_033416	Q3ZTT3	Missense_Mutation	SNP	ENST00000259239.3	37	CCDS2160.1	.	.	.	.	.	.	.	.	.	.	G	33	5.286818	0.95517	.	.	ENSG00000136718	ENST00000259239;ENST00000409935;ENST00000409649;ENST00000428740	T;T;T;T	0.26518	1.73;1.73;1.73;1.73	5.74	5.74	0.90152	Brix domain (3);Anticodon-binding (1);	0.042858	0.85682	D	0.000000	T	0.62624	0.2443	M	0.93808	3.46	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	T	0.71676	-0.4521	10	0.87932	D	0	-50.3631	17.8009	0.88586	0.0:0.0:1.0:0.0	.	225	Q96G21	IMP4_HUMAN	N	225;225;140;170	ENSP00000259239:D225N;ENSP00000386411:D225N;ENSP00000386716:D140N;ENSP00000389701:D170N	ENSP00000259239:D225N	D	+	1	0	IMP4	130820139	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	8.417000	0.90247	2.884000	0.98904	0.655000	0.94253	GAC		0.582	IMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254520.2	NM_033416	
THSD7B	80731	broad.mit.edu	37	2	137814271	137814271	+	Missense_Mutation	SNP	C	C	T	rs201418197		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:137814271C>T	ENST00000409968.1	+	3	599	c.421C>T	c.(421-423)Cgg>Tgg	p.R141W	THSD7B_ENST00000413152.2_Missense_Mutation_p.R110W|THSD7B_ENST00000272643.3_Missense_Mutation_p.R141W|THSD7B_ENST00000543459.1_5'Flank			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	141	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ACTGCAGCACCGGATGGTGCG	0.542																																					p.R110W												.	.	0			c.C328T	2						.						81.0	86.0	84.0					2																	137814271		2040	4213	6253	137530741	SO:0001583	missense	80731	exon2					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.421C>T	2.37:g.137814271C>T	ENSP00000387145:p.Arg141Trp		137530741	NM_001080427		Missense_Mutation	SNP	ENST00000409968.1	37		.	.	.	.	.	.	.	.	.	.	C	24.4	4.526392	0.85600	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.78924	-1.22;-1.22;-1.22	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.87881	0.6289	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87723	0.2574	9	.	.	.	.	13.7136	0.62682	0.2641:0.7359:0.0:0.0	.	110	C9JKN6	.	W	141;141;110	ENSP00000387145:R141W;ENSP00000272643:R141W;ENSP00000413841:R110W	.	R	+	1	2	THSD7B	137530741	0.999000	0.42202	1.000000	0.80357	0.976000	0.68499	1.516000	0.35856	2.890000	0.99128	0.585000	0.79938	CGG		0.542	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9	
NXPH2	11249	broad.mit.edu	37	2	139429180	139429180	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:139429180T>C	ENST00000272641.3	-	2	213	c.107A>G	c.(106-108)gAc>gGc	p.D36G		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	36	II.				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.D36G(1)		endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		AGCATCTTTGTCTTCCCAATC	0.512																																					p.D36G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A107G	2						.						74.0	74.0	74.0					2																	139429180		1977	4164	6141	139145650	SO:0001583	missense	11249	exon2			AF043467	CCDS46421.1	2q22.1	2008-05-15			ENSG00000144227	ENSG00000144227			8076	protein-coding gene	gene with protein product		604635				9570794	Standard	NM_007226		Approved	NPH2	uc002tvi.3	O95156	OTTHUMG00000153636	ENST00000272641.3:c.107A>G	2.37:g.139429180T>C	ENSP00000272641:p.Asp36Gly		139145650	NM_007226	B7WP24|Q494R1|Q75QC3	Missense_Mutation	SNP	ENST00000272641.3	37	CCDS46421.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.247904	0.80024	.	.	ENSG00000144227	ENST00000272641	.	.	.	6.17	6.17	0.99709	.	0.050275	0.85682	D	0.000000	T	0.42314	0.1197	L	0.27053	0.805	0.58432	D	0.999995	P	0.51057	0.941	B	0.41374	0.355	T	0.29150	-1.0021	8	.	.	.	-22.9491	16.8222	0.85835	0.0:0.0:0.0:1.0	.	36	O95156	NXPH2_HUMAN	G	36	.	.	D	-	2	0	NXPH2	139145650	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.315000	0.78998	2.371000	0.80710	0.533000	0.62120	GAC		0.512	NXPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331901.1		
ZEB2	9839	broad.mit.edu	37	2	145161641	145161641	+	Missense_Mutation	SNP	C	C	T	rs398124281		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:145161641C>T	ENST00000558170.2	-	6	1833	c.649G>A	c.(649-651)Gac>Aac	p.D217N	ZEB2_ENST00000539609.3_Missense_Mutation_p.D193N|ZEB2_ENST00000409487.3_Missense_Mutation_p.D217N|ZEB2_ENST00000303660.4_Missense_Mutation_p.D217N	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	217					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)	p.D217N(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TAGCCCCGGTCGCAGTAGGGG	0.547																																					p.D193N	Melanoma(33;1235 1264 5755 16332)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G577A	2						.						138.0	128.0	131.0					2																	145161641		2203	4300	6503	144878111	SO:0001583	missense	9839	exon5			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.649G>A	2.37:g.145161641C>T	ENSP00000454157:p.Asp217Asn		144878111	NM_001171653	A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.433162	0.62844	.	.	ENSG00000169554	ENST00000392860;ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902;ENST00000392861	T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6	5.65	5.65	0.86999	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.43853	0.1266	N	0.20845	0.615	0.80722	D	1	D;P;D;P;P	0.89917	1.0;0.873;0.982;0.954;0.954	D;B;P;B;B	0.72625	0.978;0.183;0.542;0.241;0.241	T	0.46275	-0.9203	10	0.87932	D	0	-15.4213	19.7329	0.96190	0.0:1.0:0.0:0.0	.	193;82;193;216;217	F5H814;Q53TD9;B7Z2P2;A0JP08;O60315	.;.;.;.;ZEB2_HUMAN	N	212;193;217;217;217;217	ENSP00000443792:D193N;ENSP00000302501:D217N;ENSP00000386854:D217N;ENSP00000395496:D217N;ENSP00000376601:D217N	ENSP00000302501:D217N	D	-	1	0	ZEB2	144878111	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.089000	0.71384	2.663000	0.90544	0.655000	0.94253	GAC		0.547	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795	
NBAS	51594	broad.mit.edu	37	2	15694241	15694241	+	Silent	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:15694241A>G	ENST00000281513.5	-	4	256	c.231T>C	c.(229-231)ccT>ccC	p.P77P	NBAS_ENST00000441750.1_Silent_p.P77P	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	77					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.P77P(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CCAGTCCATCAGGGAGCAAAA	0.368																																					p.P77P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T231C	2						.						93.0	91.0	92.0					2																	15694241		2203	4300	6503	15611692	SO:0001819	synonymous_variant	51594	exon4			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.231T>C	2.37:g.15694241A>G			15611692	NM_015909	O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Silent	SNP	ENST00000281513.5	37	CCDS1685.1																																																																																				0.368	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909	
MYCN	4613	broad.mit.edu	37	2	16085893	16085893	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:16085893C>T	ENST00000281043.3	+	3	1366	c.1069C>T	c.(1069-1071)Cgt>Tgt	p.R357C		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	357					branching morphogenesis of an epithelial tube (GO:0048754)|cartilage condensation (GO:0001502)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|lung development (GO:0030324)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|positive regulation of cell death (GO:0010942)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin (GO:0000785)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R357C(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			GGCGTCCCCACGTCCGCTCAA	0.587			A		neuroblastoma																																p.R357C			Dom	yes		2	2p24.1	4613	"""v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)"""		O	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1069T	2						.						46.0	45.0	45.0					2																	16085893		2203	4300	6503	16003344	SO:0001583	missense	4613	exon3			BC002712	CCDS1687.1	2p24.3	2013-08-14	2013-07-09		ENSG00000134323	ENSG00000134323		"""Basic helix-loop-helix proteins"""	7559	protein-coding gene	gene with protein product		164840		NMYC			Standard	XM_006711886		Approved	bHLHe37, N-myc, MYCNOT	uc002rci.3	P04198	OTTHUMG00000039579	ENST00000281043.3:c.1069C>T	2.37:g.16085893C>T	ENSP00000281043:p.Arg357Cys		16003344	NM_005378	Q53XS5|Q6LDT9	Missense_Mutation	SNP	ENST00000281043.3	37	CCDS1687.1	.	.	.	.	.	.	.	.	.	.	C	13.60	2.286450	0.40494	.	.	ENSG00000134323	ENST00000281043;ENST00000426211	T	0.20881	2.04	4.83	3.93	0.45458	Transcription regulator Myc, N-terminal (1);	3.900960	0.05151	N	0.496104	T	0.50667	0.1629	M	0.76727	2.345	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.02307	-1.1179	10	0.62326	D	0.03	-23.0815	12.3655	0.55226	0.1699:0.8301:0.0:0.0	.	357	P04198	MYCN_HUMAN	C	357;275	ENSP00000281043:R357C	ENSP00000281043:R357C	R	+	1	0	MYCN	16003344	0.712000	0.27916	0.057000	0.19452	0.545000	0.35147	1.277000	0.33167	1.138000	0.42230	0.655000	0.94253	CGT		0.587	MYCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095469.2	NM_005378	
NEB	4703	broad.mit.edu	37	2	152502711	152502711	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:152502711T>C	ENST00000172853.10	-	55	7616	c.7469A>G	c.(7468-7470)cAg>cGg	p.Q2490R	NEB_ENST00000604864.1_Missense_Mutation_p.Q2490R|NEB_ENST00000397345.3_Missense_Mutation_p.Q2490R|NEB_ENST00000603639.1_Missense_Mutation_p.Q2490R|NEB_ENST00000409198.1_Missense_Mutation_p.Q2490R|NEB_ENST00000427231.2_Missense_Mutation_p.Q2490R			P20929	NEBU_HUMAN	nebulin	2490					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.Q2490R(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GATGTGGATCTGAGTCTTGTC	0.343																																					p.Q2490R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A7469G	2						.						107.0	95.0	99.0					2																	152502711		1863	4124	5987	152210957	SO:0001583	missense	4703	exon55			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.7469A>G	2.37:g.152502711T>C	ENSP00000172853:p.Gln2490Arg		152210957	NM_001164507	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	T	17.18	3.323379	0.60634	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.05513	3.43;3.45;3.45;3.44	5.72	5.72	0.89469	.	0.282155	0.33161	N	0.005214	T	0.09774	0.0240	L	0.55213	1.73	0.80722	D	1	B	0.28552	0.215	B	0.29353	0.101	T	0.05517	-1.0880	10	0.45353	T	0.12	.	15.2797	0.73773	0.0:0.0:0.0:1.0	.	2490	P20929	NEBU_HUMAN	R	2490	ENSP00000386259:Q2490R;ENSP00000380505:Q2490R;ENSP00000416578:Q2490R;ENSP00000172853:Q2490R	ENSP00000172853:Q2490R	Q	-	2	0	NEB	152210957	0.949000	0.32298	0.998000	0.56505	0.995000	0.86356	2.289000	0.43523	2.311000	0.77944	0.533000	0.62120	CAG		0.343	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
MARCH7	64844	broad.mit.edu	37	2	160619447	160619447	+	Silent	SNP	C	C	T	rs374695356		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:160619447C>T	ENST00000259050.4	+	8	2072	c.1950C>T	c.(1948-1950)tgC>tgT	p.C650C	MARCH7_ENST00000539065.1_Silent_p.C594C|MARCH7_ENST00000409175.1_Silent_p.C650C|MARCH7_ENST00000409591.1_Silent_p.C612C	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	650					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.C650C(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						TGCACTTGTGCGAACAAAGCT	0.423																																					p.C650C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1950T	2						.	C		0,4406		0,0,2203	134.0	121.0	125.0		1950	-3.4	1.0	2		125	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MARCH7	NM_022826.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		650/705	160619447	1,13005	2203	4300	6503	160327693	SO:0001819	synonymous_variant	64844	exon8			AK022973	CCDS2210.1, CCDS63038.1, CCDS63039.1	2q24.2	2013-01-09	2012-02-23	2005-01-27	ENSG00000136536	ENSG00000136536		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	17393	protein-coding gene	gene with protein product		613334	"""axotrophin"", ""membrane-associated ring finger (C3HC4) 7"""	AXOT		14722266	Standard	XM_005246773		Approved	MARCH-VII, RNF177	uc002uax.3	Q9H992	OTTHUMG00000132029	ENST00000259050.4:c.1950C>T	2.37:g.160619447C>T			160327693	NM_022826	A8K9X1|B7Z7P5|D3DPB0|Q53GQ1|Q9BTR9	Silent	SNP	ENST00000259050.4	37	CCDS2210.1																																																																																				0.423	MARCH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255040.3	NM_022826	
PXDN	7837	broad.mit.edu	37	2	1653434	1653434	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:1653434G>A	ENST00000252804.4	-	17	2168	c.2118C>T	c.(2116-2118)aaC>aaT	p.N706N		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	706					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.N706N(2)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		ACACCAGGTCGTTGTAGTGGT	0.592																																					p.N706N												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.C2118T	2						.						53.0	54.0	54.0					2																	1653434		2101	4222	6323	1632441	SO:0001819	synonymous_variant	7837	exon17			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.2118C>T	2.37:g.1653434G>A			1632441	NM_012293	A8QM65|D6W4Y0|Q4KMG2	Silent	SNP	ENST00000252804.4	37	CCDS46221.1																																																																																				0.592	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455	
TBR1	10716	broad.mit.edu	37	2	162280642	162280642	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:162280642G>A	ENST00000389554.3	+	6	2270	c.1953G>A	c.(1951-1953)tcG>tcA	p.S651S	AC009487.4_ENST00000437683.1_RNA|AC009487.4_ENST00000444164.1_RNA|AC009487.5_ENST00000505579.1_RNA|TBR1_ENST00000410035.1_Silent_p.S364S	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	651					axon guidance (GO:0007411)|brain development (GO:0007420)|hindbrain development (GO:0030902)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of neuron projection development (GO:0010975)|specification of organ identity (GO:0010092)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S651S(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						CCGAGAGTTCGTCCCCGCTCA	0.637																																					p.S651S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1953A	2						.						21.0	25.0	23.0					2																	162280642		2203	4300	6503	161988888	SO:0001819	synonymous_variant	10716	exon6			U49250	CCDS33310.1	2q24.2	2011-06-13			ENSG00000136535	ENSG00000136535		"""T-boxes"""	11590	protein-coding gene	gene with protein product		604616				7619531	Standard	NM_006593		Approved		uc002ubw.1	Q16650	OTTHUMG00000153888	ENST00000389554.3:c.1953G>A	2.37:g.162280642G>A			161988888	NM_006593	B0AZS4|B2R6G5|Q14DC5|Q53TH0|Q56A81	Silent	SNP	ENST00000389554.3	37	CCDS33310.1																																																																																				0.637	TBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332845.1	NM_006593	
SCN7A	6332	broad.mit.edu	37	2	167322383	167322383	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:167322383A>G	ENST00000409855.1	-	7	905	c.779T>C	c.(778-780)aTg>aCg	p.M260T		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	260					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.M260T(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	CAAGTTGCCCATGAAGAGCCC	0.408																																					p.M260T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T779C	2						.						93.0	87.0	89.0					2																	167322383		1813	4076	5889	167030629	SO:0001583	missense	6332	exon7			M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.779T>C	2.37:g.167322383A>G	ENSP00000386796:p.Met260Thr		167030629	NM_002976		Missense_Mutation	SNP	ENST00000409855.1	37	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	A	16.01	3.000137	0.54147	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992;ENST00000441411	D;D;D	0.97279	-4.32;-4.32;-4.32	5.48	4.24	0.50183	Ion transport (1);	0.091263	0.48286	D	0.000193	D	0.98121	0.9380	M	0.82923	2.615	0.38611	D	0.950902	D	0.89917	1.0	D	0.87578	0.998	D	0.99513	1.0956	10	0.87932	D	0	.	10.6303	0.45532	0.8563:0.0:0.0:0.1437	.	260	Q01118	SCN7A_HUMAN	T	260	ENSP00000386796:M260T;ENSP00000413699:M260T;ENSP00000403846:M260T	ENSP00000259060:M260T	M	-	2	0	SCN7A	167030629	1.000000	0.71417	1.000000	0.80357	0.475000	0.33008	5.018000	0.64054	2.202000	0.70862	0.477000	0.44152	ATG		0.408	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1		
LRP2	4036	broad.mit.edu	37	2	170038098	170038098	+	Silent	SNP	G	G	A	rs150166603	byFrequency	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:170038098G>A	ENST00000263816.3	-	52	10314	c.10029C>T	c.(10027-10029)cgC>cgT	p.R3343R	LRP2_ENST00000461418.1_5'UTR	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3343					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.R3343R(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CAATGTATGCGCGGTGACCCC	0.483																																					p.R3343R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C10029T	2						.	G		2,4404	4.2+/-10.8	0,2,2201	140.0	115.0	124.0		10029	-11.3	0.0	2	dbSNP_134	124	0,8600		0,0,4300	no	coding-synonymous	LRP2	NM_004525.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		3343/4656	170038098	2,13004	2203	4300	6503	169746344	SO:0001819	synonymous_variant	4036	exon52				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.10029C>T	2.37:g.170038098G>A			169746344	NM_004525	O00711|Q16215	Silent	SNP	ENST00000263816.3	37	CCDS2232.1																																																																																				0.483	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
FASTKD1	79675	broad.mit.edu	37	2	170387169	170387169	+	Silent	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:170387169A>G	ENST00000453153.2	-	14	2716	c.2370T>C	c.(2368-2370)aaT>aaC	p.N790N	FASTKD1_ENST00000453929.2_Silent_p.N747N|FASTKD1_ENST00000495505.1_5'UTR	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	790	RAP. {ECO:0000255|PROSITE- ProRule:PRU00619}.				cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.N790N(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						TGTGAGGGATATTTCTACAAA	0.303																																					p.N790N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2370C	2						.						124.0	132.0	129.0					2																	170387169		2203	4300	6503	170095415	SO:0001819	synonymous_variant	79675	exon14			AL832058	CCDS33318.1, CCDS63051.1	2q31.1	2008-02-05			ENSG00000138399	ENSG00000138399			26150	protein-coding gene	gene with protein product						11347906	Standard	NM_024622		Approved	FLJ21901	uc002uev.4	Q53R41	OTTHUMG00000154953	ENST00000453153.2:c.2370T>C	2.37:g.170387169A>G			170095415	NM_024622	Q8N583|Q8TEA9|Q96JM5|Q96N71|Q9H6T4	Silent	SNP	ENST00000453153.2	37	CCDS33318.1																																																																																				0.303	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337788.2	NM_024622	
SLC25A12	8604	broad.mit.edu	37	2	172641950	172641950	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:172641950C>T	ENST00000422440.2	-	18	1908	c.1871G>A	c.(1870-1872)cGc>cAc	p.R624H	SLC25A12_ENST00000392592.4_Missense_Mutation_p.R517H	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	624					aspartate transport (GO:0015810)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)	p.R624H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	GTCTGCAATGCGTGACTTAGG	0.502																																					p.R624H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1871A	2						.						199.0	178.0	185.0					2																	172641950		2203	4300	6503	172350196	SO:0001583	missense	8604	exon18			Y14494	CCDS33327.1	2q24	2013-05-22	2012-03-29		ENSG00000115840	ENSG00000115840		"""Solute carriers"", ""EF-hand domain containing"""	10982	protein-coding gene	gene with protein product		603667	"""solute carrier family 25 (mitochondrial carrier, Aralar), member 12"""			9722566, 10702666, 11566871	Standard	NM_003705		Approved	Aralar	uc002uhh.3	O75746	OTTHUMG00000134290	ENST00000422440.2:c.1871G>A	2.37:g.172641950C>T	ENSP00000388658:p.Arg624His		172350196	NM_003705	B3KR64|Q96AM8	Missense_Mutation	SNP	ENST00000422440.2	37	CCDS33327.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.187897	0.38609	.	.	ENSG00000115840	ENST00000422440;ENST00000392592	T;T	0.78816	-1.21;-1.18	6.02	5.15	0.70609	.	0.204155	0.48767	D	0.000172	T	0.66257	0.2771	N	0.22421	0.69	0.39853	D	0.973267	B;B	0.15719	0.014;0.014	B;B	0.08055	0.002;0.003	T	0.61720	-0.7005	10	0.30078	T	0.28	-7.4569	15.4976	0.75666	0.0:0.9337:0.0:0.0663	.	517;624	B3KR64;O75746	.;CMC1_HUMAN	H	624;517	ENSP00000388658:R624H;ENSP00000376371:R517H	ENSP00000376371:R517H	R	-	2	0	SLC25A12	172350196	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	3.005000	0.49521	1.548000	0.49413	0.650000	0.86243	CGC		0.502	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259010.2	NM_003705	
CDCA7	83879	broad.mit.edu	37	2	174228118	174228118	+	Silent	SNP	C	C	T	rs35285795	byFrequency	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:174228118C>T	ENST00000347703.3	+	3	456	c.312C>T	c.(310-312)tcC>tcT	p.S104S	CDCA7_ENST00000410101.3_Silent_p.S139S|CDCA7_ENST00000410019.3_Silent_p.S62S|CDCA7_ENST00000306721.3_Silent_p.S183S|CDCA7_ENST00000392567.2_Silent_p.S104S	NM_145810.2	NP_665809.1	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7	104					apoptotic process (GO:0006915)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S183S(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			ATTCCAACTCCGATTCAGAAG	0.433													C|||	5	0.000998403	0.0038	0.0	5008	,	,		18636	0.0		0.0	False		,,,				2504	0.0				p.S183S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C549T	2						.	C	,	8,4398	14.3+/-33.2	0,8,2195	61.0	68.0	66.0		549,312	-11.9	0.0	2	dbSNP_126	66	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	CDCA7	NM_031942.4,NM_145810.2	,	0,8,6495	TT,TC,CC		0.0,0.1816,0.0615	,	183/451,104/372	174228118	8,12998	2203	4300	6503	173936364	SO:0001819	synonymous_variant	83879	exon4			BG354580	CCDS2252.1, CCDS2253.1	2q31.1	2008-02-05			ENSG00000144354	ENSG00000144354			14628	protein-coding gene	gene with protein product		609937				11598121, 12188893	Standard	NM_145810		Approved	FLJ14736, JPO1	uc002uic.1	Q9BWT1	OTTHUMG00000132296	ENST00000347703.3:c.312C>T	2.37:g.174228118C>T			173936364	NM_031942	B4DLP8|B4DV66|Q53EW5|Q580W9|Q658K4|Q658N4|Q8NBY9|Q96BV8|Q96SP5	Silent	SNP	ENST00000347703.3	37	CCDS2253.1																																																																																				0.433	CDCA7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255400.1	NM_031942	
OSBPL6	114880	broad.mit.edu	37	2	179260273	179260273	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:179260273C>A	ENST00000190611.4	+	25	3168	c.2792C>A	c.(2791-2793)cCt>cAt	p.P931H	OSBPL6_ENST00000409045.3_Missense_Mutation_p.P900H|OSBPL6_ENST00000392505.2_Missense_Mutation_p.P956H|OSBPL6_ENST00000409631.1_Missense_Mutation_p.P895H|OSBPL6_ENST00000315022.2_Missense_Mutation_p.P935H|OSBPL6_ENST00000359685.3_Missense_Mutation_p.P895H	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	931					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.P931H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GTAGACAGCCCTGTTCTTTGG	0.408																																					p.P931H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2792A	2						.						90.0	90.0	90.0					2																	179260273		2203	4300	6503	178968519	SO:0001583	missense	114880	exon25			AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"""Oxysterol binding proteins"""	16388	protein-coding gene	gene with protein product	"""OSBP-related protein 6"""	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.2792C>A	2.37:g.179260273C>A	ENSP00000190611:p.Pro931His		178968519	NM_032523	B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Missense_Mutation	SNP	ENST00000190611.4	37	CCDS2277.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.265070	0.80358	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52	5.93	5.93	0.95920	.	0.097095	0.64402	D	0.000001	T	0.48466	0.1501	L	0.58810	1.83	0.58432	D	0.999999	D;D;P;D;P	0.65815	0.96;0.995;0.924;0.989;0.948	P;P;P;P;B	0.60345	0.873;0.774;0.518;0.774;0.41	T	0.43410	-0.9393	10	0.87932	D	0	-14.0575	14.4844	0.67606	0.0:0.9302:0.0:0.0698	.	900;935;895;956;931	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3	.;.;.;.;OSBL6_HUMAN	H	956;895;900;931;895;935	ENSP00000376293:P956H;ENSP00000352713:P895H;ENSP00000387248:P900H;ENSP00000190611:P931H;ENSP00000386885:P895H;ENSP00000318723:P935H	ENSP00000190611:P931H	P	+	2	0	OSBPL6	178968519	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.155000	0.58131	2.814000	0.96858	0.563000	0.77884	CCT		0.408	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523	
TTN	7273	broad.mit.edu	37	2	179408774	179408774	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:179408774G>A	ENST00000591111.1	-	296	91398	c.91174C>T	c.(91174-91176)Cgc>Tgc	p.R30392C	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R23160C|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R29465C|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R32033C|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R23093C|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R22968C|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586707.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30392	Ig-like 137.				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.R22968C(1)|p.R29463C(1)|p.R23160C(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)			ACCATCAAGCGCAAGGAGGCC	0.463																																					p.C22967C												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C68901T	2						.						141.0	140.0	140.0					2																	179408774		1943	4146	6089	179117020	SO:0001583	missense	7273	exon174			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.91174C>T	2.37:g.179408774G>A	ENSP00000465570:p.Arg30392Cys		179117020	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	20.2	3.944149	0.73672	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	6.04	6.04	0.98038	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.74397	0.3711	M	0.91090	3.175	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.78682	-0.2109	9	0.87932	D	0	.	20.5792	0.99380	0.0:0.0:1.0:0.0	.	22968;23093;23160;30392	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	29465;22968;23160;23093;22965	ENSP00000343764:R29465C;ENSP00000434586:R22968C;ENSP00000340554:R23160C;ENSP00000352154:R23093C	ENSP00000340554:R23160C	R	-	1	0	TTN	179117020	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.869000	0.99810	2.873000	0.98535	0.561000	0.74099	CGC		0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179638834	179638834	+	Missense_Mutation	SNP	C	C	T	rs75031300	byFrequency	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:179638834C>T	ENST00000591111.1	-	31	7285	c.7061G>A	c.(7060-7062)cGc>cAc	p.R2354H	TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R2308H|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R2354H|TTN_ENST00000360870.5_Missense_Mutation_p.R2354H|TTN_ENST00000589042.1_Missense_Mutation_p.R2354H|TTN_ENST00000359218.5_Missense_Mutation_p.R2308H|TTN_ENST00000460472.2_Missense_Mutation_p.R2308H|RP11-88L24.4_ENST00000582038.2_RNA			Q8WZ42	TITIN_HUMAN	titin	12676	Ig-like 12.|Ig-like 13.				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.R2308H(3)|p.R2354H(2)		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)			AGCAATGGGGCGGGCTGTGAA	0.433													C|||	14	0.00279553	0.0091	0.0014	5008	,	,		20222	0.0		0.001	False		,,,				2504	0.0				p.R2354H												.	.	5	Substitution - Missense(5)	large_intestine(5)	c.G7061A	2						.	C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	42,4364	44.6+/-78.6	0,42,2161	86.0	90.0	88.0		6923,7061,7061,6923,6923	5.7	1.0	2	dbSNP_131	88	1,8597		0,1,4298	yes	missense,missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	29,29,29,29,29	0,43,6459	TT,TC,CC		0.0116,0.9532,0.3307	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	2308/26927,2354/33424,2354/5605,2308/27052,2308/27119	179638834	43,12961	2203	4299	6502	179347079	SO:0001583	missense	7273	exon31			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.7061G>A	2.37:g.179638834C>T	ENSP00000465570:p.Arg2354His		179347079	NM_133379	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		7	0.003205128205128205	6	0.012195121951219513	1	0.0027624309392265192	0	0.0	0	0.0	C	14.94	2.684907	0.47991	0.009532	1.16E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	5.73	5.73	0.89815	Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.56277	0.1974	L	0.57536	1.79	0.44995	D	0.998016	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.996;0.996;0.996;0.996;0.999	T	0.62139	-0.6917	9	0.87932	D	0	.	19.8983	0.96975	0.0:1.0:0.0:0.0	.	2308;2308;2308;2354;2354	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	H	2354;2308;2308;2308;2308;2354	ENSP00000343764:R2354H;ENSP00000434586:R2308H;ENSP00000340554:R2308H;ENSP00000352154:R2308H;ENSP00000354117:R2354H	ENSP00000340554:R2308H	R	-	2	0	TTN	179347079	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	7.818000	0.86416	2.718000	0.92993	0.650000	0.86243	CGC		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
ZNF804A	91752	broad.mit.edu	37	2	185803341	185803341	+	Missense_Mutation	SNP	C	C	T	rs143591848		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:185803341C>T	ENST00000302277.6	+	4	3812	c.3218C>T	c.(3217-3219)gCc>gTc	p.A1073V		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1073							metal ion binding (GO:0046872)	p.A1073V(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CCTCCAGCTGCCCTCCCACCC	0.483																																					p.A1073V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3218T	2						.	C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	94.0	88.0	90.0		3218	4.8	0.9	2	dbSNP_134	90	0,8600		0,0,4300	no	missense	ZNF804A	NM_194250.1	64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	1073/1210	185803341	1,13005	2203	4300	6503	185511586	SO:0001583	missense	91752	exon4			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.3218C>T	2.37:g.185803341C>T	ENSP00000303252:p.Ala1073Val		185511586	NM_194250	A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.010741	0.35511	2.27E-4	0.0	ENSG00000170396	ENST00000302277	T	0.08546	3.08	4.83	4.83	0.62350	.	0.511711	0.16039	N	0.232490	T	0.15522	0.0374	M	0.61703	1.905	0.30566	N	0.763992	D	0.58268	0.982	P	0.46585	0.521	T	0.03086	-1.1074	10	0.59425	D	0.04	0.0248	15.0725	0.72049	0.0:1.0:0.0:0.0	.	1073	Q7Z570	Z804A_HUMAN	V	1073	ENSP00000303252:A1073V	ENSP00000303252:A1073V	A	+	2	0	ZNF804A	185511586	0.102000	0.21896	0.851000	0.33527	0.363000	0.29612	1.282000	0.33226	2.227000	0.72691	0.313000	0.20887	GCC		0.483	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250	
DNAH7	56171	broad.mit.edu	37	2	196640616	196640616	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:196640616T>A	ENST00000312428.6	-	60	11256	c.11156A>T	c.(11155-11157)gAt>gTt	p.D3719V	DNAH7_ENST00000409063.1_Missense_Mutation_p.D202V	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3719					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.D3719V(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTCTGACTGATCCTTAGTGAT	0.463																																					p.D3719V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A11156T	2						.						157.0	151.0	153.0					2																	196640616		1947	4155	6102	196348861	SO:0001583	missense	56171	exon60			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.11156A>T	2.37:g.196640616T>A	ENSP00000311273:p.Asp3719Val		196348861	NM_018897	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	T	18.00	3.524715	0.64747	.	.	ENSG00000118997	ENST00000312428;ENST00000409063	T;T	0.08634	3.07;3.07	4.77	4.77	0.60923	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.41534	0.1163	H	0.96833	3.89	0.80722	D	1	D	0.69078	0.997	D	0.74023	0.982	T	0.58696	-0.7591	10	0.45353	T	0.12	.	14.3971	0.67018	0.0:0.0:0.0:1.0	.	3719	Q8WXX0	DYH7_HUMAN	V	3719;202	ENSP00000311273:D3719V;ENSP00000386912:D202V	ENSP00000311273:D3719V	D	-	2	0	DNAH7	196348861	1.000000	0.71417	0.996000	0.52242	0.618000	0.37518	7.216000	0.77974	2.114000	0.64651	0.533000	0.62120	GAT		0.463	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897	
SATB2	23314	broad.mit.edu	37	2	200137238	200137238	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	A	A	A	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:200137238A>G	ENST00000417098.1	-	11	2714	c.1898T>C	c.(1897-1899)aTt>aCt	p.I633T	SATB2_ENST00000260926.5_Missense_Mutation_p.I633T|SATB2_ENST00000457245.1_Missense_Mutation_p.I633T|SATB2_ENST00000443023.1_Missense_Mutation_p.I574T|SATB2_ENST00000428695.1_Missense_Mutation_p.I515T	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	633					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TACATCATGAATAAAGCTTTG	0.542																																					p.I633T	Colon(30;262 767 11040 24421 36230)											.	.	0			c.T1898C	2						.						84.0	82.0	83.0					2																	200137238		2203	4300	6503	199845483	SO:0001583	missense	23314	exon11			AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.1898T>C	2.37:g.200137238A>G	ENSP00000401112:p.Ile633Thr		199845483	NM_001172509	A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP	ENST00000417098.1	37	CCDS2327.1	.	.	.	.	.	.	.	.	.	.	A	19.79	3.892357	0.72524	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000428695;ENST00000457245	D;D;D;D;D	0.96073	-3.9;-3.9;-3.9;-3.9;-3.9	5.5	5.5	0.81552	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.96081	0.8723	L	0.32530	0.975	0.80722	D	1	D;D	0.62365	0.968;0.991	D;D	0.76071	0.954;0.987	D	0.96986	0.9718	10	0.87932	D	0	-12.4325	15.9016	0.79380	1.0:0.0:0.0:0.0	.	515;633	Q3ZB87;Q9UPW6	.;SATB2_HUMAN	T	633;574;633;515;633	ENSP00000401112:I633T;ENSP00000388764:I574T;ENSP00000260926:I633T;ENSP00000388581:I515T;ENSP00000405420:I633T	ENSP00000260926:I633T	I	-	2	0	SATB2	199845483	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.287000	0.95975	2.213000	0.71641	0.528000	0.53228	ATT		0.542	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265	
SATB2	23314	broad.mit.edu	37	2	200233356	200233356	+	Silent	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:200233356T>C	ENST00000417098.1	-	6	1488	c.672A>G	c.(670-672)agA>agG	p.R224R	SATB2_ENST00000260926.5_Silent_p.R224R|SATB2_ENST00000484124.1_5'UTR|SATB2_ENST00000457245.1_Silent_p.R224R|SATB2_ENST00000443023.1_Silent_p.R165R|SATB2_ENST00000428695.1_Intron	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	224					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)	p.R224R(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTTTATACCATCTCCCAAACT	0.323																																					p.R224R	Colon(30;262 767 11040 24421 36230)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A672G	2						.						102.0	99.0	100.0					2																	200233356		2203	4300	6503	199941601	SO:0001819	synonymous_variant	23314	exon6			AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.672A>G	2.37:g.200233356T>C			199941601	NM_001172509	A8K5Z8|Q3ZB87|Q4V763	Silent	SNP	ENST00000417098.1	37	CCDS2327.1																																																																																				0.323	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265	
CD28	940	broad.mit.edu	37	2	204599618	204599618	+	Missense_Mutation	SNP	G	G	A	rs200016310		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:204599618G>A	ENST00000324106.8	+	4	795	c.646G>A	c.(646-648)Gca>Aca	p.A216T	CD28_ENST00000374478.4_Missense_Mutation_p.A97T|CD28_ENST00000374481.3_Missense_Mutation_p.A132T|CD28_ENST00000458610.2_Missense_Mutation_p.A230T	NM_001243077.1|NM_006139.3	NP_001230006.1|NP_006130.1	P10747	CD28_HUMAN	CD28 molecule	216					apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|cytokine biosynthetic process (GO:0042089)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|negative thymic T cell selection (GO:0045060)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of inflammatory response to antigenic stimulus (GO:0002863)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of mitosis (GO:0045840)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of viral genome replication (GO:0045070)|regulation of defense response to virus by virus (GO:0050690)|regulatory T cell differentiation (GO:0045066)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|SH3/SH2 adaptor activity (GO:0005070)	p.A216T(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						ACGCGACTTCGCAGCCTATCG	0.622																																					p.A216T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G646A	2						.						54.0	59.0	57.0					2																	204599618		2203	4300	6503	204307863	SO:0001583	missense	940	exon4			J02988	CCDS2361.1, CCDS58749.1	2q33	2013-01-11	2006-03-28		ENSG00000178562	ENSG00000178562		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1653	protein-coding gene	gene with protein product	"""T-cell-specific surface glycoprotein"""	186760	"""CD28 antigen (Tp44)"""			1355979	Standard	NM_006139		Approved		uc002vah.4	P10747	OTTHUMG00000132878	ENST00000324106.8:c.646G>A	2.37:g.204599618G>A	ENSP00000324890:p.Ala216Thr		204307863	NM_006139	A8KAC1|Q13964|Q52M23|Q70WG0|Q8NI54|Q8NI55|Q8NI56|Q8WXJ2|Q9BYV0	Missense_Mutation	SNP	ENST00000324106.8	37	CCDS2361.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.985708	0.53934	.	.	ENSG00000178562	ENST00000374481;ENST00000458610;ENST00000324106;ENST00000374478	D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71	5.19	5.19	0.71726	.	0.104198	0.42964	D	0.000633	D	0.88149	0.6359	M	0.70275	2.135	0.39313	D	0.965119	D;P	0.89917	1.0;0.913	D;B	0.91635	0.999;0.204	D	0.86079	0.1543	10	0.26408	T	0.33	-31.6177	8.7316	0.34503	0.136:0.0:0.864:0.0	.	97;216	P10747-2;P10747	.;CD28_HUMAN	T	132;230;216;97	ENSP00000363605:A132T;ENSP00000393648:A230T;ENSP00000324890:A216T;ENSP00000363602:A97T	ENSP00000324890:A216T	A	+	1	0	CD28	204307863	1.000000	0.71417	0.961000	0.40146	0.746000	0.42486	4.217000	0.58547	2.555000	0.86185	0.655000	0.94253	GCA		0.622	CD28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256366.3	NM_006139	
DYTN	391475	broad.mit.edu	37	2	207559497	207559497	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:207559497C>T	ENST00000452335.2	-	8	940	c.824G>A	c.(823-825)tGc>tAc	p.C275Y		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	275						plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.C275Y(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		TACCTGAATGCAGTGCTCAAT	0.403																																					p.C275Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G824A	2						.						123.0	120.0	121.0					2																	207559497		1930	4154	6084	207267742	SO:0001583	missense	391475	exon8			ABF55377	CCDS46502.1	2q33.3	2007-01-22			ENSG00000232125	ENSG00000232125			23279	protein-coding gene	gene with protein product						17233888	Standard	NM_001093730		Approved		uc002vbr.1	A2CJ06	OTTHUMG00000154729	ENST00000452335.2:c.824G>A	2.37:g.207559497C>T	ENSP00000396593:p.Cys275Tyr		207267742	NM_001093730		Missense_Mutation	SNP	ENST00000452335.2	37	CCDS46502.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.432731	0.25813	.	.	ENSG00000232125	ENST00000452335	D	0.87103	-2.21	5.13	2.31	0.28768	.	.	.	.	.	T	0.78349	0.4269	L	0.27053	0.805	0.09310	N	1	B	0.17465	0.022	B	0.10450	0.005	T	0.65236	-0.6217	9	0.37606	T	0.19	-0.0588	9.4952	0.38984	0.0:0.7648:0.0:0.2352	.	275	A2CJ06	DYTN_HUMAN	Y	275	ENSP00000396593:C275Y	ENSP00000396593:C275Y	C	-	2	0	DYTN	207267742	0.991000	0.36638	0.001000	0.08648	0.086000	0.17979	3.197000	0.51028	0.679000	0.31345	0.561000	0.74099	TGC		0.403	DYTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336799.1		
CPS1	1373	broad.mit.edu	37	2	211471493	211471493	+	Missense_Mutation	SNP	A	A	G	rs77521725		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:211471493A>G	ENST00000233072.5	+	18	2216	c.2020A>G	c.(2020-2022)Aat>Gat	p.N674D	CPS1_ENST00000430249.2_Missense_Mutation_p.N680D|CPS1_ENST00000451903.2_Missense_Mutation_p.N223D	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	674	ATP-grasp 1.		N -> I (in CPS1D). {ECO:0000269|PubMed:17310273}.|N -> K (in CPS1D). {ECO:0000269|PubMed:21120950}.		anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.N674D(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	GACACTCTCCAATGCCGAGTT	0.453																																					p.N223D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A667G	2						.						129.0	118.0	122.0					2																	211471493		2203	4300	6503	211179738	SO:0001583	missense	1373	exon8			AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.2020A>G	2.37:g.211471493A>G	ENSP00000233072:p.Asn674Asp		211179738	NM_001122634	B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	A	15.15	2.749249	0.49257	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.96459	-4.02;-4.02;-4.02	5.87	5.87	0.94306	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);	0.000000	0.85682	D	0.000000	D	0.92938	0.7753	N	0.12471	0.22	0.58432	D	0.999998	P;P	0.39624	0.681;0.681	P;P	0.46685	0.524;0.524	D	0.91728	0.5394	10	0.13853	T	0.58	-15.2149	16.2774	0.82651	1.0:0.0:0.0:0.0	.	684;674	Q59HF8;P31327	.;CPSM_HUMAN	D	680;682;674;223	ENSP00000402608:N680D;ENSP00000233072:N674D;ENSP00000406136:N223D	ENSP00000233072:N674D	N	+	1	0	CPS1	211179738	1.000000	0.71417	0.996000	0.52242	0.951000	0.60555	7.172000	0.77604	2.247000	0.74100	0.482000	0.46254	AAT		0.453	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5		
ABCA12	26154	broad.mit.edu	37	2	215821482	215821482	+	Silent	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:215821482T>C	ENST00000272895.7	-	42	6357	c.6138A>G	c.(6136-6138)gtA>gtG	p.V2046V	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Silent_p.V1728V	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2046					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)	p.V2046V(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTGAAAACGCTACAGGCACCA	0.343																																					p.V2046V	Ovarian(66;664 1488 5121 34295)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A6138G	2						.						96.0	96.0	96.0					2																	215821482		2203	4300	6503	215529727	SO:0001819	synonymous_variant	26154	exon42			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.6138A>G	2.37:g.215821482T>C			215529727	NM_173076	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Silent	SNP	ENST00000272895.7	37	CCDS33372.1																																																																																				0.343	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076	
FN1	2335	broad.mit.edu	37	2	216243873	216243873	+	Missense_Mutation	SNP	C	C	T	rs369072643		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:216243873C>T	ENST00000359671.1	-	33	5594	c.5329G>A	c.(5329-5331)Gtg>Atg	p.V1777M	FN1_ENST00000357867.4_Missense_Mutation_p.V1687M|FN1_ENST00000345488.5_Missense_Mutation_p.V1777M|FN1_ENST00000443816.1_Missense_Mutation_p.V1687M|FN1_ENST00000432072.2_Missense_Mutation_p.V1778M|FN1_ENST00000354785.4_Missense_Mutation_p.V1868M|FN1_ENST00000421182.1_Missense_Mutation_p.V1687M|FN1_ENST00000357009.2_Missense_Mutation_p.V1777M|FN1_ENST00000446046.1_Missense_Mutation_p.V1777M|FN1_ENST00000336916.4_Missense_Mutation_p.V1777M|FN1_ENST00000490833.1_5'Flank|FN1_ENST00000346544.3_Missense_Mutation_p.V1777M|FN1_ENST00000323926.6_Missense_Mutation_p.V1868M|FN1_ENST00000356005.4_Missense_Mutation_p.V1687M			P02751	FINC_HUMAN	fibronectin 1	1777	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Heparin-binding 2.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)	p.V1777M(1)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	GATACAACCACGGATGAGCTG	0.443																																					p.V1687M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5059A	2						.	C	MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	131.0	120.0	124.0		5329,5059,5059,5329,5602	6.2	1.0	2		124	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	FN1	NM_002026.2,NM_212474.1,NM_212476.1,NM_212478.1,NM_212482.1	21,21,21,21,21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	1777/2356,1687/2177,1687/2297,1777/2331,1868/2478	216243873	1,13005	2203	4300	6503	215952118	SO:0001583	missense	2335	exon32				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.5329G>A	2.37:g.216243873C>T	ENSP00000352696:p.Val1777Met		215952118	NM_212476	B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37		.	.	.	.	.	.	.	.	.	.	C	21.1	4.096469	0.76870	2.27E-4	0.0	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000456923	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.60424	0.19;0.19;0.19;0.19;0.19;0.19;0.19;0.19;0.19;0.19;0.19;0.19;0.19;0.19	6.17	6.17	0.99709	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.195738	0.35466	N	0.003182	T	0.72407	0.3456	M	0.63843	1.955	0.09310	N	1	D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D;D;D;D;D;D	0.79108	0.989;0.983;0.948;0.992;0.989;0.99;0.964;0.979;0.992;0.992;0.948;0.982	T	0.66052	-0.6019	10	0.48119	T	0.1	.	13.9957	0.64397	0.0:0.9315:0.0:0.0685	.	1777;1778;1868;1687;1687;1777;1777;1778;1687;1687;1868;1777	F8W7G7;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15;P02751	.;.;.;.;.;.;.;.;.;.;.;FINC_HUMAN	M	1687;1868;1777;1687;1868;1778;1777;1777;1777;1777;1777;1687;1778;1687;494	ENSP00000394423:V1687M;ENSP00000323534:V1868M;ENSP00000338200:V1777M;ENSP00000350534:V1687M;ENSP00000346839:V1868M;ENSP00000352696:V1777M;ENSP00000265312:V1777M;ENSP00000273049:V1777M;ENSP00000349509:V1777M;ENSP00000410422:V1777M;ENSP00000415018:V1687M;ENSP00000399538:V1778M;ENSP00000348285:V1687M;ENSP00000416139:V494M	ENSP00000265313:V1778M	V	-	1	0	FN1	215952118	0.395000	0.25254	0.964000	0.40570	0.964000	0.63967	3.662000	0.54510	2.941000	0.99782	0.655000	0.94253	GTG		0.443	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476	
XRCC5	7520	broad.mit.edu	37	2	216986925	216986925	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:216986925T>C	ENST00000392133.3	+	8	1093	c.632T>C	c.(631-633)gTg>gCg	p.V211A	XRCC5_ENST00000392132.2_Missense_Mutation_p.V211A			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	211					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to fatty acid (GO:0071398)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|hematopoietic stem cell differentiation (GO:0060218)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of type I interferon production (GO:0032481)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)	p.V211A(1)		endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		GTGAAAATGGTGATGATATCT	0.388								Non-homologous end-joining																													p.V211A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T632C	2						.						108.0	105.0	106.0					2																	216986925		2203	4300	6503	216695170	SO:0001583	missense	7520	exon6			AF039597	CCDS2402.1	2q35	2008-07-31	2008-07-31		ENSG00000079246	ENSG00000079246			12833	protein-coding gene	gene with protein product	"""Ku autoantigen, 80kDa"""	194364	"""X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD)"""			9636207, 9214634	Standard	NM_021141		Approved	KU80, KARP-1, Ku86, KUB2	uc002vfy.3	P13010	OTTHUMG00000133059	ENST00000392133.3:c.632T>C	2.37:g.216986925T>C	ENSP00000375978:p.Val211Ala		216695170	NM_021141	A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1	Missense_Mutation	SNP	ENST00000392133.3	37	CCDS2402.1	.	.	.	.	.	.	.	.	.	.	T	15.46	2.841392	0.51057	.	.	ENSG00000079246	ENST00000392133;ENST00000392132	T;T	0.32272	1.46;1.46	5.09	5.09	0.68999	Ku70/Ku80, N-terminal alpha/beta (1);von Willebrand factor, type A (1);	0.827057	0.11376	N	0.570332	T	0.37865	0.1019	M	0.65975	2.015	0.40671	D	0.982214	B	0.20459	0.045	B	0.26969	0.075	T	0.15838	-1.0423	10	0.39692	T	0.17	.	14.5432	0.68011	0.0:0.0:0.0:1.0	.	211	P13010	XRCC5_HUMAN	A	211	ENSP00000375978:V211A;ENSP00000375977:V211A	ENSP00000375977:V211A	V	+	2	0	XRCC5	216695170	1.000000	0.71417	0.929000	0.37066	0.867000	0.49689	7.011000	0.76359	2.275000	0.75901	0.529000	0.55759	GTG		0.388	XRCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256675.3	NM_021141	
GLB1L	79411	broad.mit.edu	37	2	220103914	220103914	+	Missense_Mutation	SNP	C	C	T	rs142820300		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:220103914C>T	ENST00000295759.7	-	11	1275	c.962G>A	c.(961-963)cGc>cAc	p.R321H	GLB1L_ENST00000497855.1_5'UTR|GLB1L_ENST00000392089.2_Missense_Mutation_p.R321H|GLB1L_ENST00000409640.1_Missense_Mutation_p.R231H|GLB1L_ENST00000356283.3_Missense_Mutation_p.R231H			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	321					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)	p.R321H(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGGAAGGAAGCGTCCCTTCTT	0.433																																					p.R321H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G962A	2						.	C	HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	120.0	110.0	113.0		962	0.9	1.0	2	dbSNP_134	113	0,8600		0,0,4300	no	missense	GLB1L	NM_024506.3	29	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	possibly-damaging	321/655	220103914	3,13003	2203	4300	6503	219812158	SO:0001583	missense	79411	exon11				CCDS2437.1, CCDS74657.1	2q36.1	2008-02-05			ENSG00000163521	ENSG00000163521			28129	protein-coding gene	gene with protein product						12975309	Standard	XM_005246850		Approved	MGC10771	uc002vkm.3	Q6UWU2	OTTHUMG00000133133	ENST00000295759.7:c.962G>A	2.37:g.220103914C>T	ENSP00000295759:p.Arg321His		219812158	NM_024506	Q96DR0	Missense_Mutation	SNP	ENST00000295759.7	37	CCDS2437.1	.	.	.	.	.	.	.	.	.	.	C	9.994	1.231591	0.22626	6.81E-4	0.0	ENSG00000163521	ENST00000295759;ENST00000409640;ENST00000392089;ENST00000356283	D;D;D;D	0.97186	-4.28;-4.03;-4.28;-4.03	5.53	0.858	0.19030	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.556106	0.18620	N	0.135886	D	0.88876	0.6556	N	0.10782	0.045	0.22968	N	0.998491	B;B	0.14438	0.008;0.01	B;B	0.18561	0.003;0.022	T	0.79271	-0.1872	10	0.33141	T	0.24	-0.4398	1.0247	0.01525	0.1969:0.2669:0.1189:0.4173	.	231;321	Q6UWU2-2;Q6UWU2	.;GLB1L_HUMAN	H	321;231;321;231	ENSP00000295759:R321H;ENSP00000386354:R231H;ENSP00000375939:R321H;ENSP00000348628:R231H	ENSP00000295759:R321H	R	-	2	0	GLB1L	219812158	0.025000	0.19082	0.994000	0.49952	0.993000	0.82548	0.271000	0.18626	0.296000	0.22592	0.650000	0.86243	CGC		0.433	GLB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256822.2	NM_024506	
SPEG	10290	broad.mit.edu	37	2	220309647	220309647	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:220309647G>A	ENST00000312358.7	+	3	711	c.579G>A	c.(577-579)acG>acA	p.T193T	SPEG_ENST00000396695.2_5'UTR|SPEG_ENST00000396698.1_Silent_p.T89T	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	193					cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.T193T(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCGGGCAGACGGTCCTGGAGC	0.726																																					p.T193T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G579A	2						.						29.0	35.0	33.0					2																	220309647		2012	4151	6163	220017891	SO:0001819	synonymous_variant	10290	exon3			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.579G>A	2.37:g.220309647G>A			220017891	NM_005876	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	37	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	G	8.983	0.975789	0.18736	.	.	ENSG00000072195	ENST00000451076	.	.	.	4.86	3.91	0.45181	.	.	.	.	.	T	0.48822	0.1521	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45454	-0.9260	4	.	.	.	.	4.7417	0.13015	0.0817:0.2563:0.5227:0.1394	.	.	.	.	S	44	.	.	G	+	1	0	SPEG	220017891	0.764000	0.28473	1.000000	0.80357	0.993000	0.82548	-0.284000	0.08422	2.227000	0.72691	0.442000	0.29010	GGT		0.726	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876	
OBSL1	23363	broad.mit.edu	37	2	220432904	220432904	+	Silent	SNP	C	C	T	rs372405999		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:220432904C>T	ENST00000404537.1	-	2	1211	c.1155G>A	c.(1153-1155)aaG>aaA	p.K385K	OBSL1_ENST00000289656.3_5'UTR|OBSL1_ENST00000603926.1_Silent_p.K385K|OBSL1_ENST00000373873.4_Silent_p.K385K|OBSL1_ENST00000491370.1_5'Flank|OBSL1_ENST00000373876.1_Silent_p.K385K|OBSL1_ENST00000265318.4_Silent_p.K385K	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	385	Ig-like 4.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)	p.K385K(1)					Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		TCTGCTCGTACTTGCGGCAGG	0.632											OREG0003988	type=REGULATORY REGION|Gene=OBSL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.K385K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1155A	2						.	C	,,	0,4036		0,0,2018	27.0	35.0	32.0		1155,1155,1155	4.3	1.0	2		32	1,8353		0,1,4176	no	coding-synonymous,coding-synonymous,coding-synonymous	OBSL1	NM_001173408.1,NM_001173431.1,NM_015311.2	,,	0,1,6194	TT,TC,CC		0.012,0.0,0.0081	,,	385/1026,385/1544,385/1897	220432904	1,12389	2018	4177	6195	220141148	SO:0001819	synonymous_variant	23363	exon2			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.1155G>A	2.37:g.220432904C>T		2266	220141148	NM_001173431	A4KVA4|A4KVA5|Q96IW3|S4R3M6	Silent	SNP	ENST00000404537.1	37	CCDS46520.1																																																																																				0.632	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1		
EPHA4	2043	broad.mit.edu	37	2	222310881	222310881	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:222310881G>A	ENST00000281821.2	-	9	1777	c.1736C>T	c.(1735-1737)gCc>gTc	p.A579V	EPHA4_ENST00000409854.1_Missense_Mutation_p.A579V|EPHA4_ENST00000409938.1_Missense_Mutation_p.A579V|EPHA4_ENST00000392071.4_Missense_Mutation_p.A528V	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	579					adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)	p.A579V(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TTCTTGTTTGGCTTTACTGTA	0.284																																					p.A579V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1736T	2						.						122.0	119.0	120.0					2																	222310881		2201	4298	6499	222019125	SO:0001583	missense	2043	exon9			L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.1736C>T	2.37:g.222310881G>A	ENSP00000281821:p.Ala579Val		222019125	NM_004438	A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	ENST00000281821.2	37	CCDS2447.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.230227	0.79688	.	.	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071	T;T;T;T	0.11604	2.76;2.76;2.76;2.76	6.06	6.06	0.98353	.	0.099673	0.64402	D	0.000002	T	0.22205	0.0535	M	0.82323	2.585	0.80722	D	1	B	0.22276	0.067	B	0.24006	0.05	T	0.01480	-1.1344	10	0.62326	D	0.03	.	18.8014	0.92018	0.0:0.0:1.0:0.0	.	579	P54764	EPHA4_HUMAN	V	579;579;579;528	ENSP00000281821:A579V;ENSP00000386276:A579V;ENSP00000386829:A579V;ENSP00000375923:A528V	ENSP00000281821:A579V	A	-	2	0	EPHA4	222019125	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.160000	0.94734	2.882000	0.98803	0.655000	0.94253	GCC		0.284	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3		
MRPL44	65080	broad.mit.edu	37	2	224822287	224822287	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:224822287A>G	ENST00000258383.3	+	1	167	c.98A>G	c.(97-99)aAg>aGg	p.K33R		NM_022915.3	NP_075066.1	Q9H9J2	RM44_HUMAN	mitochondrial ribosomal protein L44	33					mitochondrial translational elongation (GO:0070125)|RNA processing (GO:0006396)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)	p.K33R(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)		GGAGTGAAGAAGGGATTCCGC	0.682																																					p.K33R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A98G	2						.						33.0	35.0	34.0					2																	224822287		2203	4300	6503	224530531	SO:0001583	missense	65080	exon1			AK022763	CCDS2459.1	2p24.3-p24.1	2012-09-13			ENSG00000135900	ENSG00000135900		"""Mitochondrial ribosomal proteins / large subunits"""	16650	protein-coding gene	gene with protein product	"""39S ribosomal protein L44, mitochondrial"""	611849					Standard	NM_022915		Approved	FLJ12701, FLJ13990	uc002vnr.4	Q9H9J2	OTTHUMG00000133164	ENST00000258383.3:c.98A>G	2.37:g.224822287A>G	ENSP00000258383:p.Lys33Arg		224530531	NM_022915	Q53S16|Q6IA62|Q9H821	Missense_Mutation	SNP	ENST00000258383.3	37	CCDS2459.1	.	.	.	.	.	.	.	.	.	.	A	12.61	1.988451	0.35036	.	.	ENSG00000135900	ENST00000258383	T	0.45668	0.89	5.34	2.93	0.34026	.	0.755659	0.11830	N	0.525302	T	0.13884	0.0336	N	0.00841	-1.15	0.31064	N	0.713794	P	0.44816	0.844	P	0.46026	0.501	T	0.15464	-1.0436	10	0.02654	T	1	9.8496	4.3414	0.11112	0.6896:0.2057:0.1047:0.0	.	33	Q9H9J2	RM44_HUMAN	R	33	ENSP00000258383:K33R	ENSP00000258383:K33R	K	+	2	0	MRPL44	224530531	1.000000	0.71417	0.983000	0.44433	0.864000	0.49448	1.630000	0.37081	1.018000	0.39521	0.533000	0.62120	AAG		0.682	MRPL44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256866.2	NM_022915	
SERPINE2	5270	broad.mit.edu	37	2	224849587	224849587	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:224849587C>T	ENST00000258405.4	-	5	1008	c.766G>A	c.(766-768)Gca>Aca	p.A256T	SERPINE2_ENST00000409840.3_Missense_Mutation_p.A256T|SERPINE2_ENST00000409304.1_Missense_Mutation_p.A256T|SERPINE2_ENST00000447280.2_Missense_Mutation_p.A268T	NM_001136528.1|NM_006216.3	NP_001130000.1|NP_006207.1	P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	256					blood coagulation (GO:0007596)|cerebellar granular layer morphogenesis (GO:0021683)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|innervation (GO:0060384)|long-term synaptic potentiation (GO:0060291)|mating plug formation (GO:0042628)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein processing (GO:0010955)|negative regulation of proteolysis (GO:0045861)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of sodium ion transport (GO:0010766)|positive regulation of astrocyte differentiation (GO:0048711)|regulation of cell migration (GO:0030334)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of timing of cell differentiation (GO:0048505)|secretion by cell (GO:0032940)|secretory granule organization (GO:0033363)|seminal vesicle epithelium development (GO:0061108)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|neuromuscular junction (GO:0031594)|platelet alpha granule (GO:0031091)|vesicle (GO:0031982)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.A256T(1)		breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		GTCGGCAGTGCAATCAGCATG	0.522																																					p.A268T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G802A	2						.						156.0	137.0	144.0					2																	224849587		2203	4300	6503	224557831	SO:0001583	missense	5270	exon5			M17783	CCDS2460.1, CCDS46525.1, CCDS46526.1	2q36.1	2014-02-18	2005-08-18		ENSG00000135919	ENSG00000135919		"""Serine (or cysteine) peptidase inhibitors"""	8951	protein-coding gene	gene with protein product	"""glial-derived nexin 1"""	177010	"""serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2"""	PI7		7665170, 24172014	Standard	NM_006216		Approved	PN1, GDN, PNI, nexin	uc002vnu.2	P07093	OTTHUMG00000133163	ENST00000258405.4:c.766G>A	2.37:g.224849587C>T	ENSP00000258405:p.Ala256Thr		224557831	NM_001136530	B2R6A4|B4DIF2|Q53S15|Q5D0C4	Missense_Mutation	SNP	ENST00000258405.4	37	CCDS2460.1	.	.	.	.	.	.	.	.	.	.	C	31	5.095226	0.94197	.	.	ENSG00000135919	ENST00000409304;ENST00000258405;ENST00000409840;ENST00000447280;ENST00000432738	D;D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86;-1.86	5.97	5.97	0.96955	Serpin domain (3);	0.115998	0.64402	D	0.000008	D	0.92113	0.7500	M	0.78637	2.42	0.80722	D	1	D;D	0.67145	0.996;0.992	P;P	0.61275	0.886;0.886	D	0.92048	0.5646	10	0.72032	D	0.01	.	20.428	0.99075	0.0:1.0:0.0:0.0	.	268;256	B4DIF2;P07093	.;GDN_HUMAN	T	256;256;256;268;256	ENSP00000386412:A256T;ENSP00000258405:A256T;ENSP00000386969:A256T;ENSP00000415786:A268T;ENSP00000408452:A256T	ENSP00000258405:A256T	A	-	1	0	SERPINE2	224557831	1.000000	0.71417	0.581000	0.28614	0.556000	0.35491	7.347000	0.79356	2.837000	0.97791	0.655000	0.94253	GCA		0.522	SERPINE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256865.2	NM_006216	
DAW1	164781	broad.mit.edu	37	2	228769719	228769719	+	Silent	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:228769719T>C	ENST00000309931.2	+	8	806	c.723T>C	c.(721-723)caT>caC	p.H241H	DAW1_ENST00000373666.2_Silent_p.H241H|DAW1_ENST00000545118.1_Silent_p.H226H	NM_178821.1	NP_849143.1	Q8N136	DAW1_HUMAN	dynein assembly factor with WDR repeat domains 1	241						cilium (GO:0005929)		p.H241H(1)									CTTTTGATCATACCGTTGTAG	0.413																																					p.H241H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T723C	2						.						167.0	170.0	169.0					2																	228769719		2203	4300	6503	228477963	SO:0001819	synonymous_variant	164781	exon8				CCDS2470.1	2q36.3	2013-09-03	2013-02-19	2013-02-19	ENSG00000123977	ENSG00000123977		"""WD repeat domain containing"""	26383	protein-coding gene	gene with protein product	"""outer row dynein assembly 16 homolog (Chlamydomonas)"""		"""WD repeat domain 69"""	WDR69		20568242, 21953912	Standard	NM_178821		Approved	FLJ25955, ODA16	uc002vpn.1	Q8N136	OTTHUMG00000133190	ENST00000309931.2:c.723T>C	2.37:g.228769719T>C			228477963	NM_178821	Q6ZRY1|Q8N776	Silent	SNP	ENST00000309931.2	37	CCDS2470.1																																																																																				0.413	DAW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331745.1	NM_178821	
B3GNT7	93010	broad.mit.edu	37	2	232262458	232262458	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:232262458C>T	ENST00000287590.5	+	2	289	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W	AC017104.6_ENST00000415129.1_RNA|B3GNT7_ENST00000479618.1_3'UTR	NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	10					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)	p.R10W(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		AACCGTCTACCGGAGTCTGTG	0.647																																					p.R10W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C28T	2						.						40.0	51.0	48.0					2																	232262458		2110	4229	6339	231970702	SO:0001583	missense	93010	exon2			AK000770	CCDS46540.1	2q36.1	2013-02-21			ENSG00000156966	ENSG00000156966		"""Beta 3-glycosyltransferases"""	18811	protein-coding gene	gene with protein product		615313				12061784	Standard	NM_145236		Approved	beta3GnT7	uc002vrs.3	Q8NFL0	OTTHUMG00000153880	ENST00000287590.5:c.28C>T	2.37:g.232262458C>T	ENSP00000287590:p.Arg10Trp		231970702	NM_145236	B3KWY4|B7WNP0	Missense_Mutation	SNP	ENST00000287590.5	37	CCDS46540.1	.	.	.	.	.	.	.	.	.	.	C	12.81	2.049458	0.36181	.	.	ENSG00000156966	ENST00000287590	T	0.35973	1.28	5.73	-1.28	0.09318	.	4.077480	0.00639	N	0.000502	T	0.29458	0.0734	N	0.14661	0.345	0.22851	N	0.99865	D	0.56968	0.978	P	0.46479	0.518	T	0.42224	-0.9464	10	0.87932	D	0	.	9.5141	0.39095	0.4796:0.4509:0.0695:0.0	.	10	Q8NFL0	B3GN7_HUMAN	W	10	ENSP00000287590:R10W	ENSP00000287590:R10W	R	+	1	2	B3GNT7	231970702	0.928000	0.31464	0.938000	0.37757	0.057000	0.15508	0.586000	0.23894	0.097000	0.17492	-0.467000	0.05162	CGG		0.647	B3GNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332827.1	NM_145236	
DGKD	8527	broad.mit.edu	37	2	234360639	234360639	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:234360639C>T	ENST00000264057.2	+	18	2209	c.2197C>T	c.(2197-2199)Ccc>Tcc	p.P733S	DGKD_ENST00000409813.3_Missense_Mutation_p.P689S	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	733					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.P733S(1)		central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	TGGTTCCTTACCCGGTGGCTC	0.498																																					p.P733S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2197T	2						.						128.0	118.0	121.0					2																	234360639		2203	4300	6503	234025378	SO:0001583	missense	8527	exon18			D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.2197C>T	2.37:g.234360639C>T	ENSP00000264057:p.Pro733Ser		234025378	NM_152879	Q14158|Q6PK55|Q8NG53	Missense_Mutation	SNP	ENST00000264057.2	37	CCDS2504.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.017559	0.35606	.	.	ENSG00000077044	ENST00000264057;ENST00000409813	T;T	0.78364	-1.01;-1.17	4.81	4.81	0.61882	.	0.148553	0.45867	D	0.000329	T	0.75206	0.3818	L	0.60455	1.87	0.46396	D	0.999025	B;B;B	0.16603	0.002;0.018;0.004	B;B;B	0.10450	0.003;0.003;0.005	T	0.70208	-0.4935	10	0.27082	T	0.32	.	18.7723	0.91898	0.0:1.0:0.0:0.0	.	617;689;733	Q53SE4;Q16760-2;Q16760	.;.;DGKD_HUMAN	S	733;689	ENSP00000264057:P733S;ENSP00000386455:P689S	ENSP00000264057:P733S	P	+	1	0	DGKD	234025378	1.000000	0.71417	0.993000	0.49108	0.757000	0.42996	2.465000	0.45075	2.606000	0.88127	0.637000	0.83480	CCC		0.498	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648	
HJURP	55355	broad.mit.edu	37	2	234758426	234758426	+	Missense_Mutation	SNP	C	C	T	rs562372914		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:234758426C>T	ENST00000411486.2	-	4	385	c.320G>A	c.(319-321)cGc>cAc	p.R107H	HJURP_ENST00000432087.1_Intron|HJURP_ENST00000441687.1_Intron	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	107					cell cycle (GO:0007049)|CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|nucleosome assembly (GO:0006334)|regulation of DNA binding (GO:0051101)|regulation of protein complex assembly (GO:0043254)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|identical protein binding (GO:0042802)	p.R107H(1)		NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		CAGGACTGTGCGGTGCGAGGG	0.582																																					p.R107H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G320A	2						.						29.0	24.0	26.0					2																	234758426		2172	4245	6417	234423165	SO:0001583	missense	55355	exon4				CCDS33406.1, CCDS63166.1, CCDS63167.1	2q37.1	2007-12-06			ENSG00000123485	ENSG00000123485			25444	protein-coding gene	gene with protein product		612667				17823411	Standard	NM_001282962		Approved	DKFZp762E1312, URLC9, hFLEG1, FAKTS	uc002vvg.3	Q8NCD3	OTTHUMG00000059125	ENST00000411486.2:c.320G>A	2.37:g.234758426C>T	ENSP00000414109:p.Arg107His		234423165	NM_018410	A8IRH5|B4DWR0|B4DZV4|Q9BUT2|Q9NSL8	Missense_Mutation	SNP	ENST00000411486.2	37	CCDS33406.1	.	.	.	.	.	.	.	.	.	.	C	4.345	0.063418	0.08388	.	.	ENSG00000123485	ENST00000411486	T	0.06849	3.25	3.34	-4.13	0.03904	.	2.977120	0.00885	N	0.002168	T	0.05960	0.0155	L	0.40543	1.245	0.09310	N	1	B	0.21225	0.053	B	0.09377	0.004	T	0.31280	-0.9949	10	0.12766	T	0.61	.	1.9463	0.03357	0.1438:0.2207:0.1416:0.4939	.	107	Q8NCD3	HJURP_HUMAN	H	107	ENSP00000414109:R107H	ENSP00000414109:R107H	R	-	2	0	HJURP	234423165	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.595000	0.05727	-1.175000	0.02751	0.655000	0.94253	CGC		0.582	HJURP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130996.6	NM_018410	
TRPM8	79054	broad.mit.edu	37	2	234871931	234871931	+	Silent	SNP	G	G	A	rs568957487		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:234871931G>A	ENST00000324695.4	+	13	1699	c.1659G>A	c.(1657-1659)gtG>gtA	p.V553V	TRPM8_ENST00000433712.2_Silent_p.V241V	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	553					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.V553V(1)		breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CCCAGGACGTGTCTCCTATTA	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		18387	0.001		0.0	False		,,,				2504	0.0				p.V553V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1659A	2						.						103.0	88.0	94.0					2																	234871931		2203	4300	6503	234536670	SO:0001819	synonymous_variant	79054	exon13			AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.1659G>A	2.37:g.234871931G>A			234536670	NM_024080	A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Silent	SNP	ENST00000324695.4	37	CCDS33407.1																																																																																				0.522	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080	
RBM44	375316	broad.mit.edu	37	2	238725869	238725869	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:238725869A>G	ENST00000409864.1	+	3	564	c.310A>G	c.(310-312)Act>Gct	p.T104A	RBM44_ENST00000316997.4_Missense_Mutation_p.T104A|RBM44_ENST00000444524.2_Intron			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	103						cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)	p.T104A(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		TGAAGACAGTACTGACTATGC	0.323																																					p.T104A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A310G	2						.						46.0	45.0	45.0					2																	238725869		1828	4075	5903	238390608	SO:0001583	missense	375316	exon3			AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"""RNA binding motif (RRM) containing"""	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.310A>G	2.37:g.238725869A>G	ENSP00000386727:p.Thr104Ala		238390608	NM_001080504	A0AUW3	Missense_Mutation	SNP	ENST00000409864.1	37	CCDS46554.1	.	.	.	.	.	.	.	.	.	.	A	6.791	0.514883	0.12944	.	.	ENSG00000177483	ENST00000316997;ENST00000409864	T;T	0.32023	1.47;1.47	5.51	-3.34	0.04943	.	1.711770	0.03138	N	0.166238	T	0.19087	0.0458	N	0.25647	0.755	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14420	-1.0473	10	0.20519	T	0.43	-0.0096	5.7392	0.18083	0.2655:0.3195:0.4149:0.0	.	103	Q6ZP01	RBM44_HUMAN	A	104	ENSP00000321179:T104A;ENSP00000386727:T104A	ENSP00000321179:T104A	T	+	1	0	RBM44	238390608	0.000000	0.05858	0.005000	0.12908	0.202000	0.24057	0.120000	0.15647	-0.490000	0.06707	0.460000	0.39030	ACT		0.323	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328733.2	NM_001080504	
UBE2F	140739	broad.mit.edu	37	2	238896619	238896619	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:238896619G>A	ENST00000272930.4	+	3	327	c.133G>A	c.(133-135)Gaa>Aaa	p.E45K	UBE2F_ENST00000409633.1_Missense_Mutation_p.E45K|UBE2F_ENST00000409332.1_Missense_Mutation_p.E45K|UBE2F_ENST00000409953.1_Missense_Mutation_p.E21K|UBE2F_ENST00000414443.1_Intron|UBE2F-SCLY_ENST00000449191.1_Missense_Mutation_p.E45K	NM_001278305.1|NM_080678.2	NP_001265234.1|NP_542409.1	Q969M7	UBE2F_HUMAN	ubiquitin-conjugating enzyme E2F (putative)	45					protein neddylation (GO:0045116)		ATP binding (GO:0005524)|NEDD8 ligase activity (GO:0019788)	p.E45K(1)		endometrium(1)|large_intestine(1)	2		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;6.7e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|Kidney(56;3.53e-09)|KIRC - Kidney renal clear cell carcinoma(57;9.79e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000136)|Lung(119;0.0126)|LUSC - Lung squamous cell carcinoma(224;0.0301)		TGCAGAACTTGAAGCTAATTT	0.294																																					p.E45K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G133A	2						.						75.0	83.0	80.0					2																	238896619		2201	4294	6495	238561358	SO:0001583	missense	140739	exon3			BC010549	CCDS2523.1, CCDS63175.1, CCDS63176.1, CCDS63177.1	2q37.3	2008-02-05	2005-12-15		ENSG00000184182	ENSG00000184182		"""Ubiquitin-conjugating enzymes E2"""	12480	protein-coding gene	gene with protein product	"""NEDD8 conjugating enzyme"""					12477932	Standard	NM_080678		Approved	NCE2	uc031rrz.1	Q969M7	OTTHUMG00000133341	ENST00000272930.4:c.133G>A	2.37:g.238896619G>A	ENSP00000272930:p.Glu45Lys		238561358	NM_080678	A8K1Z8|B4DDT9|B4DFI1|B4DMK3|B4DZU2|B8ZZG2|C9J212|H9KVB9	Missense_Mutation	SNP	ENST00000272930.4	37	CCDS2523.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.484610	0.84854	.	.	ENSG00000184182	ENST00000272930;ENST00000448502;ENST00000409633;ENST00000409953;ENST00000409332;ENST00000434655	T;T;T;T;T;T	0.72167	1.23;-0.63;1.23;1.23;1.21;1.23	5.01	5.01	0.66863	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.70824	0.3268	L	0.41961	1.31	0.80722	D	1	P;P	0.45594	0.776;0.862	P;P	0.49953	0.578;0.627	T	0.70472	-0.4862	10	0.39692	T	0.17	-7.1987	13.8465	0.63470	0.0:0.0:1.0:0.0	.	45;45	Q969M7-4;Q969M7	.;UBE2F_HUMAN	K	45;45;45;21;45;45	ENSP00000272930:E45K;ENSP00000396003:E45K;ENSP00000387299:E45K;ENSP00000386680:E21K;ENSP00000387060:E45K;ENSP00000406113:E45K	ENSP00000272930:E45K	E	+	1	0	UBE2F	238561358	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.701000	0.68325	2.329000	0.79093	0.655000	0.94253	GAA		0.294	UBE2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257171.2	NM_080678	
KIDINS220	57498	broad.mit.edu	37	2	8888032	8888032	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:8888032A>T	ENST00000256707.3	-	25	3694	c.3513T>A	c.(3511-3513)gaT>gaA	p.D1171E	KIDINS220_ENST00000427284.1_Missense_Mutation_p.D1171E|KIDINS220_ENST00000418530.1_Intron|KIDINS220_ENST00000473731.1_Missense_Mutation_p.D1171E	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1171					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)	p.D1171E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CATTGTTCTGATCTCTGGGCA	0.388																																					p.D1171E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3513A	2						.						126.0	117.0	119.0					2																	8888032		1826	4085	5911	8805483	SO:0001583	missense	57498	exon25			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.3513T>A	2.37:g.8888032A>T	ENSP00000256707:p.Asp1171Glu		8805483	NM_020738	A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	ENST00000256707.3	37	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	A	14.70	2.613690	0.46631	.	.	ENSG00000134313	ENST00000256707;ENST00000427284;ENST00000473731	T;T;T	0.66099	-0.17;-0.19;-0.19	5.75	4.57	0.56435	.	0.220895	0.38720	N	0.001600	T	0.55369	0.1916	M	0.66939	2.045	0.80722	D	1	B;B	0.13145	0.007;0.006	B;B	0.18561	0.009;0.022	T	0.47898	-0.9081	10	0.14252	T	0.57	.	8.849	0.35188	0.7416:0.1322:0.0:0.1262	.	1171;44	Q9ULH0;B4DG84	KDIS_HUMAN;.	E	1171	ENSP00000256707:D1171E;ENSP00000411849:D1171E;ENSP00000418974:D1171E	ENSP00000256707:D1171E	D	-	3	2	KIDINS220	8805483	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.485000	0.53208	1.078000	0.41014	0.528000	0.53228	GAT		0.388	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738	
ITGB1BP1	9270	broad.mit.edu	37	2	9558776	9558776	+	Silent	SNP	G	G	A	rs143507814		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:9558776G>A	ENST00000360635.3	-	3	947	c.51C>T	c.(49-51)agC>agT	p.S17S	ITGB1BP1_ENST00000456913.2_Silent_p.S17S|ITGB1BP1_ENST00000490426.1_Intron|ITGB1BP1_ENST00000359712.3_Silent_p.S17S|ITGB1BP1_ENST00000355346.4_Silent_p.S17S|ITGB1BP1_ENST00000238091.4_Silent_p.S17S|ITGB1BP1_ENST00000488451.1_Silent_p.S17S			O14713	ITBP1_HUMAN	integrin beta 1 binding protein 1	17	Ser/Thr-rich.				activation of protein kinase B activity (GO:0032148)|biomineral tissue development (GO:0031214)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|myoblast migration (GO:0051451)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|Notch signaling pathway (GO:0007219)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein transport (GO:0015031)|receptor clustering (GO:0043113)|regulation of blood vessel size (GO:0050880)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of integrin-mediated signaling pathway (GO:2001044)|transcription, DNA-templated (GO:0006351)|tube formation (GO:0035148)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	GDP-dissociation inhibitor activity (GO:0005092)|integrin binding (GO:0005178)|protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)	p.S17S(1)		kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.23)		TACTGATTTCGCTACTTTGGG	0.398													G|||	1	0.000199681	0.0	0.0	5008	,	,		17655	0.0		0.001	False		,,,				2504	0.0				p.S17S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C51T	2						.	G	,	1,4405	2.1+/-5.4	0,1,2202	337.0	321.0	326.0		51,51	-1.0	0.9	2	dbSNP_134	326	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ITGB1BP1	NM_004763.3,NM_022334.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	17/201,17/151	9558776	1,13005	2203	4300	6503	9476227	SO:0001819	synonymous_variant	9270	exon2			AF012023	CCDS1662.1, CCDS1663.1	2p25.2	2008-02-05			ENSG00000119185	ENSG00000119185			23927	protein-coding gene	gene with protein product	"""integrin cytoplasmic domain-associated protein 1"", ""integrin cytoplasmic domain-associated protein 1-beta"", ""integrin cytoplasmic domain-associated protein 1-alpha"", ""bodenin"""	607153				11854171, 9281591	Standard	NM_004763		Approved	ICAP-1A, ICAP-1B, ICAP1, ICAP1A, ICAP1B, ICAP-1alpha	uc002qzj.3	O14713	OTTHUMG00000090414	ENST00000360635.3:c.51C>T	2.37:g.9558776G>A			9476227	NM_022334	D6W4Y9|O14714|Q53RS0	Silent	SNP	ENST00000360635.3	37	CCDS1662.1																																																																																				0.398	ITGB1BP1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314623.2	NM_004763, NM_022334	
RRM2	6241	broad.mit.edu	37	2	10263530	10263530	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:10263530delC	ENST00000304567.5	+	3	260	c.191delC	c.(190-192)gccfs	p.A64fs	RP11-254F7.4_ENST00000607140.1_lincRNA|RRM2_ENST00000360566.2_Frame_Shift_Del_p.A124fs	NM_001034.3	NP_001025.1	P31350	RIR2_HUMAN	ribonucleotide reductase M2	64					deoxyribonucleoside diphosphate metabolic process (GO:0009186)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)	p.G66fs*8(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)	Cladribine(DB00242)|Gallium nitrate(DB05260)	AAAGCAGCTGCCCCCGGCGTG	0.488																																					p.A124fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.371delC	2						.						32.0	39.0	37.0					2																	10263530		2202	4296	6498	10180981	SO:0001589	frameshift_variant	6241	exon3				CCDS1669.1, CCDS54334.1	2p25-p24	2012-10-02	2009-07-10		ENSG00000171848	ENSG00000171848	1.17.4.1		10452	protein-coding gene	gene with protein product		180390	"""ribonucleotide reductase M2 polypeptide"""				Standard	NM_001034		Approved		uc021vdr.1	P31350	OTTHUMG00000090449	ENST00000304567.5:c.191delC	2.37:g.10263530delC	ENSP00000302955:p.Ala64fs		10180981	NM_001165931	B2R9B5|J3KP43|Q5WRU7	Frame_Shift_Del	DEL	ENST00000304567.5	37	CCDS1669.1																																																																																				0.488	RRM2-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364902.2		
IFT172	26160	broad.mit.edu	37	2	27693879	27693879	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:27693879G>A	ENST00000260570.3	-	16	1711	c.1608C>T	c.(1606-1608)gaC>gaT	p.D536D		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	536					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)		p.D536D(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CTACCAGCACGTCACTTCCTG	0.453																																					p.D536D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1608T	2						.						161.0	135.0	144.0					2																	27693879		2203	4300	6503	27547383	SO:0001819	synonymous_variant	26160	exon16			AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.1608C>T	2.37:g.27693879G>A			27547383	NM_015662	A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Silent	SNP	ENST00000260570.3	37	CCDS1755.1																																																																																				0.453	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662	
BIRC6	57448	broad.mit.edu	37	2	32688351	32688351	+	Missense_Mutation	SNP	G	G	A	rs565438694		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:32688351G>A	ENST00000421745.2	+	24	4977	c.4843G>A	c.(4843-4845)Gta>Ata	p.V1615I		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1615					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.V1615I(1)|p.V1587I(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AGCAGCCCAGGTAGCTTTGCA	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		16175	0.001		0.0	False		,,,				2504	0.0				p.V1615I	Pancreas(94;175 1509 16028 18060 45422)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4843A	2						.						73.0	69.0	70.0					2																	32688351		2203	4300	6503	32541855	SO:0001583	missense	57448	exon24			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.4843G>A	2.37:g.32688351G>A	ENSP00000393596:p.Val1615Ile		32541855	NM_016252	Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	27.2	4.808808	0.90707	.	.	ENSG00000115760	ENST00000421745	T	0.75589	-0.95	5.92	5.92	0.95590	.	0.000000	0.64402	D	0.000001	T	0.69251	0.3090	L	0.39020	1.185	0.80722	D	1	P	0.46656	0.882	B	0.41236	0.351	T	0.68224	-0.5465	10	0.35671	T	0.21	.	20.3343	0.98733	0.0:0.0:1.0:0.0	.	1615	Q9NR09	BIRC6_HUMAN	I	1615	ENSP00000393596:V1615I	ENSP00000393596:V1615I	V	+	1	0	BIRC6	32541855	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.822000	0.97130	0.650000	0.86243	GTA		0.532	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252	
BIRC6	57448	broad.mit.edu	37	2	32800226	32800226	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:32800226T>C	ENST00000421745.2	+	66	13282	c.13148T>C	c.(13147-13149)cTg>cCg	p.L4383P		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4383					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.L4355P(1)|p.L4383P(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CTTATAGTTCTGGACATGGCA	0.458																																					p.L4383P	Pancreas(94;175 1509 16028 18060 45422)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T13148C	2						.						129.0	128.0	129.0					2																	32800226		2203	4300	6503	32653730	SO:0001583	missense	57448	exon66			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.13148T>C	2.37:g.32800226T>C	ENSP00000393596:p.Leu4383Pro		32653730	NM_016252	Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	T	22.9	4.346967	0.82022	.	.	ENSG00000115760	ENST00000421745	D	0.84873	-1.91	5.7	5.7	0.88788	.	0.000000	0.64402	D	0.000002	D	0.92208	0.7529	M	0.78456	2.415	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	D	0.93135	0.6536	10	0.87932	D	0	.	15.9677	0.79987	0.0:0.0:0.0:1.0	.	4383	Q9NR09	BIRC6_HUMAN	P	4383	ENSP00000393596:L4383P	ENSP00000393596:L4383P	L	+	2	0	BIRC6	32653730	1.000000	0.71417	0.983000	0.44433	0.898000	0.52572	8.040000	0.89188	2.181000	0.69327	0.533000	0.62120	CTG		0.458	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252	
FAM98A	25940	broad.mit.edu	37	2	33810010	33810010	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:33810010G>A	ENST00000238823.8	-	8	1530	c.1390C>T	c.(1390-1392)Cga>Tga	p.R464*	FAM98A_ENST00000403368.1_3'UTR|FAM98A_ENST00000441530.2_Nonsense_Mutation_p.R269*|FAM98A_ENST00000498340.1_5'Flank			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	465	Gly-rich.						poly(A) RNA binding (GO:0044822)	p.R464*(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					cgaccacctcgcccaccacga	0.582																																					p.R464X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1390T	2						.						145.0	117.0	126.0					2																	33810010		2203	4300	6503	33663514	SO:0001587	stop_gained	25940	exon8				CCDS33179.1	2p22.3	2006-11-29		2005-11-20	ENSG00000119812	ENSG00000119812			24520	protein-coding gene	gene with protein product						12477932	Standard	NM_015475		Approved	DKFZP564F0522	uc002rpa.1	Q8NCA5	OTTHUMG00000152152	ENST00000238823.8:c.1390C>T	2.37:g.33810010G>A	ENSP00000238823:p.Arg464*		33663514	NM_015475	B2RNA2|Q9Y3Y6	Nonsense_Mutation	SNP	ENST00000238823.8	37	CCDS33179.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.706331	0.68615	.	.	ENSG00000119812	ENST00000238823;ENST00000395190;ENST00000441530	.	.	.	5.9	0.713	0.18173	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-9.856	10.0722	0.42339	0.0:0.0644:0.4861:0.4495	.	.	.	.	X	464;465;269	.	ENSP00000238823:R464X	R	-	1	2	FAM98A	33663514	0.942000	0.31987	0.734000	0.30879	0.015000	0.08874	1.456000	0.35201	-0.094000	0.12374	-0.262000	0.10625	CGA		0.582	FAM98A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325457.2	NM_015475	
VIT	5212	broad.mit.edu	37	2	36986139	36986139	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	A	A	A	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:36986139A>G	ENST00000389975.3	+	6	739	c.437A>G	c.(436-438)tAc>tGc	p.Y146C	VIT_ENST00000401530.1_Missense_Mutation_p.Y146C|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000379241.3_Missense_Mutation_p.Y146C|VIT_ENST00000379242.3_Missense_Mutation_p.Y146C|VIT_ENST00000404084.1_Missense_Mutation_p.Y124C|VIT_ENST00000457137.2_Missense_Mutation_p.Y146C	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	146					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				GGTGTAACCTACCCATCAGCT	0.403																																					p.Y146C												.	.	0			c.A437G	2						.						140.0	144.0	143.0					2																	36986139		2203	4300	6503	36839643	SO:0001583	missense	5212	exon6			AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.437A>G	2.37:g.36986139A>G	ENSP00000374625:p.Tyr146Cys		36839643	NM_001177972	A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	ENST00000389975.3	37	CCDS54347.1	.	.	.	.	.	.	.	.	.	.	A	13.62	2.292663	0.40594	.	.	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000402257;ENST00000457137;ENST00000404084;ENST00000379241;ENST00000401530	T;T;D;T;T;T	0.90563	-0.38;-0.33;-2.69;-0.39;-0.36;-0.41	5.48	4.31	0.51392	.	0.303860	0.37577	N	0.002031	D	0.92984	0.7767	M	0.61703	1.905	0.47511	D	0.999448	D;B;B;B;B;D	0.71674	0.998;0.011;0.019;0.053;0.019;0.998	P;B;B;B;B;D	0.66716	0.838;0.02;0.021;0.033;0.033;0.946	D	0.91729	0.5395	10	0.49607	T	0.09	-12.8133	9.6827	0.40080	0.8456:0.0:0.0:0.1544	.	146;146;146;146;146;146	B4DRU4;E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4;Q6UXI7-3	.;.;.;VITRN_HUMAN;.;.	C	146;146;146;146;124;146;146	ENSP00000368544:Y146C;ENSP00000374625:Y146C;ENSP00000393561:Y146C;ENSP00000384154:Y124C;ENSP00000368543:Y146C;ENSP00000385658:Y146C	ENSP00000368543:Y146C	Y	+	2	0	VIT	36839643	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.609000	0.61148	0.882000	0.36016	0.454000	0.30748	TAC		0.403	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding			
GTF2A1L	11036	broad.mit.edu	37	2	48873936	48873936	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:48873936C>T	ENST00000403751.3	+	6	770	c.733C>T	c.(733-735)Cca>Tca	p.P245S	GTF2A1L_ENST00000430487.2_Missense_Mutation_p.P211S|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.P949S|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.P949S|LHCGR_ENST00000420913.3_Intron|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.P902S|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.P949S|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.P949S	NM_006872.3	NP_006863.2	Q9UNN4	TF2AY_HUMAN	general transcription factor IIA, 1-like	245					cognition (GO:0050890)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.P949S(1)		lung(7)	7		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TATCAGTCTTCCAGGTGTTGT	0.418																																					p.P245S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C733T	2						.						128.0	118.0	121.0					2																	48873936		2203	4300	6503	48727440	SO:0001583	missense	286749	exon6			AF106857	CCDS46281.1, CCDS54359.1	2p16.3	2007-08-02			ENSG00000242441	ENSG00000242441			30727	protein-coding gene	gene with protein product	"""TFIIA alpha/beta like factor"""	605358				10364255, 11889132, 16525715	Standard	NM_006872		Approved	ALF		Q9UNN4	OTTHUMG00000152038	ENST00000403751.3:c.733C>T	2.37:g.48873936C>T	ENSP00000384597:p.Pro245Ser		48727440	NM_006872	B4DY14|Q53FD9|Q5D050	Missense_Mutation	SNP	ENST00000403751.3	37	CCDS46281.1	.	.	.	.	.	.	.	.	.	.	C	2.163	-0.391789	0.04932	.	.	ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000242441;ENSG00000242441;ENSG00000242441	ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751;ENST00000394749;ENST00000437125;ENST00000430487;ENST00000403751	T;T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89	4.88	0.934	0.19477	.	0.862235	0.09765	N	0.758723	T	0.40719	0.1128	M	0.81802	2.56	0.09310	N	1	B;B;B;B;B	0.31413	0.141;0.001;0.002;0.322;0.006	B;B;B;B;B	0.30029	0.067;0.001;0.008;0.11;0.014	T	0.31447	-0.9943	10	0.23891	T	0.37	.	6.0685	0.19875	0.0:0.5452:0.2898:0.1649	.	211;902;949;245;949	Q9UNN4-2;A8MXJ1;B5MCF5;Q9UNN4;Q53S48	.;.;.;TF2AY_HUMAN;.	S	949;949;949;949;902;244;254;211;245	ENSP00000385499:P949S;ENSP00000385701:P949S;ENSP00000378236:P949S;ENSP00000311493:P949S;ENSP00000378234:P902S;ENSP00000396702:P254S;ENSP00000387896:P211S;ENSP00000384597:P245S	ENSP00000384597:P245S	P	+	1	0	STON1-GTF2A1L;GTF2A1L	48727440	0.007000	0.16637	0.007000	0.13788	0.017000	0.09413	0.589000	0.23939	-0.015000	0.14150	-0.282000	0.10007	CCA		0.418	GTF2A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323852.4	NM_006872	
GPR75	10936	broad.mit.edu	37	2	54081430	54081430	+	Missense_Mutation	SNP	G	G	A	rs142326404		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:54081430G>A	ENST00000394705.2	-	2	734	c.464C>T	c.(463-465)aCg>aTg	p.T155M	ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000498475.2_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	155					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of neuron death (GO:1901214)	integral component of plasma membrane (GO:0005887)	C-C chemokine receptor activity (GO:0016493)|G-protein coupled receptor activity (GO:0004930)	p.T155M(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AAAGGAGGCCGTGCGATTAGG	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		19768	0.0		0.001	False		,,,				2504	0.0				p.T155M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C464T	2						.						121.0	108.0	113.0					2																	54081430		2203	4300	6503	53934934	SO:0001583	missense	10936	exon2			AF101472	CCDS1849.1	2p16	2012-08-21			ENSG00000119737	ENSG00000119737		"""GPCR / Class A : Orphans"""	4526	protein-coding gene	gene with protein product		606704				10381362	Standard	NM_006794		Approved	WI-31133	uc002rxo.3	O95800	OTTHUMG00000129280	ENST00000394705.2:c.464C>T	2.37:g.54081430G>A	ENSP00000378195:p.Thr155Met		53934934	NM_006794	B2RC02|Q6NWR2	Missense_Mutation	SNP	ENST00000394705.2	37	CCDS1849.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	8.452	0.853353	0.17106	.	.	ENSG00000119737	ENST00000394705	T	0.39229	1.09	5.74	4.86	0.63082	GPCR, rhodopsin-like superfamily (1);	0.215872	0.46758	N	0.000268	T	0.62109	0.2401	.	.	.	0.21527	N	0.999653	D	0.89917	1.0	D	0.65773	0.938	T	0.59847	-0.7377	9	0.37606	T	0.19	-3.3795	17.9228	0.88972	0.0644:0.0:0.9356:0.0	.	155	O95800	GPR75_HUMAN	M	155	ENSP00000378195:T155M	ENSP00000378195:T155M	T	-	2	0	GPR75	53934934	0.992000	0.36948	0.003000	0.11579	0.029000	0.11900	4.390000	0.59646	0.786000	0.33708	-1.164000	0.01763	ACG		0.572	GPR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251403.2		
BCL11A	53335	broad.mit.edu	37	2	60688608	60688608	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:60688608G>A	ENST00000335712.6	-	4	1666	c.1439C>T	c.(1438-1440)cCg>cTg	p.P480L	BCL11A_ENST00000538214.1_Missense_Mutation_p.P446L|BCL11A_ENST00000537768.1_Missense_Mutation_p.P149L|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Missense_Mutation_p.P480L|BCL11A_ENST00000358510.4_Missense_Mutation_p.P446L	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	480					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)	p.P480L(2)		NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			cccgttctccGGGATCAGGTT	0.637			T	IGH@	B-CLL																																p.P480L			Dom	yes		2	2p13	53335	B-cell CLL/lymphoma 11A		L	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1439T	2						.						19.0	19.0	19.0					2																	60688608		2202	4296	6498	60542112	SO:0001583	missense	53335	exon4			AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.1439C>T	2.37:g.60688608G>A	ENSP00000338774:p.Pro480Leu		60542112	NM_022893	D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000335712.6	37	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	G	11.25	1.584168	0.28268	.	.	ENSG00000119866	ENST00000356842;ENST00000378117;ENST00000538214;ENST00000537768;ENST00000335712;ENST00000358510	T;T;T;T;T	0.09073	3.02;3.28;3.25;3.35;3.26	5.47	5.47	0.80525	.	0.686228	0.14607	N	0.309292	T	0.08179	0.0204	N	0.14661	0.345	0.80722	D	1	P;P;P;P;P	0.52577	0.823;0.804;0.938;0.929;0.954	B;B;B;B;B	0.43360	0.172;0.114;0.417;0.15;0.15	T	0.48747	-0.9008	10	0.33141	T	0.24	.	18.9526	0.92645	0.0:0.0:1.0:0.0	.	446;149;446;480;480	F5H2Y4;B4DT16;Q9H165-6;Q9H165;D9YZV9	.;.;.;BC11A_HUMAN;.	L	480;516;446;149;480;446	ENSP00000349300:P480L;ENSP00000438303:P446L;ENSP00000443712:P149L;ENSP00000338774:P480L;ENSP00000351307:P446L	ENSP00000338774:P480L	P	-	2	0	BCL11A	60542112	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.090000	0.64498	2.567000	0.86603	0.655000	0.94253	CCG		0.637	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893	
PEX13	5194	broad.mit.edu	37	2	61272931	61272931	+	Silent	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:61272931A>G	ENST00000295030.5	+	3	896	c.858A>G	c.(856-858)gtA>gtG	p.V286V		NM_002618.3	NP_002609.1	Q92968	PEX13_HUMAN	peroxisomal biogenesis factor 13	286	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cerebral cortex cell migration (GO:0021795)|fatty acid alpha-oxidation (GO:0001561)|locomotory behavior (GO:0007626)|microtubule-based peroxisome localization (GO:0060152)|neuron migration (GO:0001764)|protein import into peroxisome matrix, docking (GO:0016560)|suckling behavior (GO:0001967)	integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)		p.V286V(1)		endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114)			TTGCTGCCGTATCTGAAGAAG	0.353																																					p.V286V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A858G	2						.						121.0	128.0	125.0					2																	61272931		2203	4300	6503	61126435	SO:0001819	synonymous_variant	5194	exon3			U71374	CCDS1866.1	2p16.1	2008-08-26	2008-08-26		ENSG00000162928	ENSG00000162928			8855	protein-coding gene	gene with protein product		601789	"""peroxisome biogenesis factor 13"""			9878256	Standard	NM_002618		Approved		uc002sau.4	Q92968	OTTHUMG00000129422	ENST00000295030.5:c.858A>G	2.37:g.61272931A>G			61126435	NM_002618	B2RCS1	Silent	SNP	ENST00000295030.5	37	CCDS1866.1																																																																																				0.353	PEX13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251581.3	NM_002618	
APLF	200558	broad.mit.edu	37	2	68717382	68717382	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:68717382C>T	ENST00000303795.4	+	2	328	c.157C>T	c.(157-159)Cga>Tga	p.R53*		NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	53	FHA-like.				cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of DNA ligation (GO:0051106)|regulation of isotype switching (GO:0045191)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|endodeoxyribonuclease activity (GO:0004520)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.R53*(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						TGGTCAGCTGCGAATCAAACC	0.373																																					p.R53X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C157T	2						.						84.0	86.0	85.0					2																	68717382		2203	4300	6503	68570886	SO:0001587	stop_gained	200558	exon2			BC030711	CCDS1888.1	2p14	2014-02-20	2008-10-01	2008-10-01	ENSG00000169621	ENSG00000169621			28724	protein-coding gene	gene with protein product	"""XRCC1-interacting protein 1"", ""zinc finger, CX5CX6HX5H motif containing 1"""	611035	"""chromosome 2 open reading frame 13"""	C2orf13		18474613, 18077224, 17353262	Standard	NM_173545		Approved	MGC47799, Xip1, ZCCHH1	uc002sep.3	Q8IW19	OTTHUMG00000129566	ENST00000303795.4:c.157C>T	2.37:g.68717382C>T	ENSP00000307004:p.Arg53*		68570886	NM_173545	A8K476|Q53P47|Q53PB9|Q53QU0	Nonsense_Mutation	SNP	ENST00000303795.4	37	CCDS1888.1	.	.	.	.	.	.	.	.	.	.	c	37	6.401330	0.97537	.	.	ENSG00000169621	ENST00000303795	.	.	.	5.93	3.82	0.43975	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.0927	0.53736	0.3793:0.6207:0.0:0.0	.	.	.	.	X	53	.	ENSP00000307004:R53X	R	+	1	2	APLF	68570886	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.605000	0.36815	1.341000	0.45600	0.655000	0.94253	CGA		0.373	APLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251759.1	NM_173545	
ADD2	119	broad.mit.edu	37	2	70919573	70919573	+	Missense_Mutation	SNP	G	G	A	rs372010773		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:70919573G>A	ENST00000264436.4	-	7	1111	c.667C>T	c.(667-669)Cgc>Tgc	p.R223C	ADD2_ENST00000430656.1_Missense_Mutation_p.R239C|ADD2_ENST00000407644.2_Missense_Mutation_p.R223C|ADD2_ENST00000355733.3_Missense_Mutation_p.R223C|ADD2_ENST00000413157.2_Missense_Mutation_p.R223C|AC007395.3_ENST00000457851.1_RNA	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	223					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)	p.R223C(2)		autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						ATGATGCAGCGCACGTCGGGC	0.607																																					p.R223C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C667T	2						.	G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	71.0	62.0	65.0		667,715,667,667,667	4.2	1.0	2		65	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	ADD2	NM_001185054.1,NM_001185055.1,NM_001617.3,NM_017482.3,NM_017488.3	180,180,180,180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	223/727,239/576,223/727,223/560,223/644	70919573	1,13005	2203	4300	6503	70773081	SO:0001583	missense	119	exon7			X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.667C>T	2.37:g.70919573G>A	ENSP00000264436:p.Arg223Cys		70773081	NM_001185054	A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	ENST00000264436.4	37	CCDS1906.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.353714	0.82243	0.0	1.16E-4	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000456320;ENST00000355733;ENST00000356565;ENST00000413157;ENST00000430656;ENST00000415348	T;T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72;1.72	5.1	4.18	0.49190	Class II aldolase/adducin, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.50274	0.1606	M	0.82132	2.575	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.996;0.969;0.99;0.997	T	0.53479	-0.8433	10	0.87932	D	0	-18.2382	10.9996	0.47598	0.0:0.0:0.6974:0.3026	.	239;223;223;223	B4DM17;P35612-4;P35612;P35612-3	.;.;ADDB_HUMAN;.	C	223;223;223;223;223;223;239;223	ENSP00000264436:R223C;ENSP00000384677:R223C;ENSP00000347972:R223C;ENSP00000388072:R223C;ENSP00000398112:R239C;ENSP00000412357:R223C	ENSP00000264436:R223C	R	-	1	0	ADD2	70773081	0.993000	0.37304	0.999000	0.59377	0.974000	0.67602	1.365000	0.34182	2.636000	0.89361	0.655000	0.94253	CGC		0.607	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617	
ALMS1	7840	broad.mit.edu	37	2	73651767	73651767	+	Missense_Mutation	SNP	C	C	T	rs376632767		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:73651767C>T	ENST00000264448.6	+	5	1085	c.974C>T	c.(973-975)tCg>tTg	p.S325L	ALMS1_ENST00000409009.1_Missense_Mutation_p.S283L|ALMS1_ENST00000377715.1_Missense_Mutation_p.S325L	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	325					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.S325L(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GAGACTATTTCGTCTGTTGAT	0.418																																					p.S325L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C974T	2						.						88.0	81.0	83.0					2																	73651767		1873	4120	5993	73505275	SO:0001583	missense	7840	exon5			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.974C>T	2.37:g.73651767C>T	ENSP00000264448:p.Ser325Leu		73505275	NM_015120	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.726088	0.00694	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.15834	3.29;3.29;2.39	4.71	0.883	0.19177	.	0.540210	0.14030	N	0.346206	T	0.07458	0.0188	N	0.08118	0	0.09310	N	1	B;B	0.15719	0.014;0.014	B;B	0.11329	0.006;0.006	T	0.40478	-0.9561	10	0.21014	T	0.42	.	7.4754	0.27374	0.0:0.627:0.0:0.373	.	283;325	B8ZZJ3;Q8TCU4	.;ALMS1_HUMAN	L	283;325;325	ENSP00000386627:S283L;ENSP00000264448:S325L;ENSP00000366944:S325L	ENSP00000264448:S325L	S	+	2	0	ALMS1	73505275	0.000000	0.05858	0.001000	0.08648	0.177000	0.22998	0.281000	0.18810	0.038000	0.15604	-0.252000	0.11476	TCG		0.418	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120	
LOXL3	84695	broad.mit.edu	37	2	74763948	74763948	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:74763948T>A	ENST00000264094.3	-	5	871	c.800A>T	c.(799-801)gAc>gTc	p.D267V	LOXL3_ENST00000484369.1_5'Flank|LOXL3_ENST00000393937.2_Intron|LOXL3_ENST00000409986.1_Intron|LOXL3_ENST00000409549.1_Missense_Mutation_p.D267V|LOXL3_ENST00000409249.1_Missense_Mutation_p.D267V	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	267	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)	p.D267V(1)		endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CCTGGCGGTGTCATTGGCACG	0.642																																					p.D267V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A800T	2						.						63.0	69.0	67.0					2																	74763948		2203	4300	6503	74617456	SO:0001583	missense	84695	exon5			AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.800A>T	2.37:g.74763948T>A	ENSP00000264094:p.Asp267Val		74617456	NM_032603	D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Missense_Mutation	SNP	ENST00000264094.3	37	CCDS1953.1	.	.	.	.	.	.	.	.	.	.	T	12.07	1.826604	0.32329	.	.	ENSG00000115318	ENST00000264094;ENST00000409249;ENST00000409549;ENST00000413469	T;T;T;T	0.35048	1.33;1.33;1.33;1.33	4.63	4.63	0.57726	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.469100	0.21728	N	0.070002	T	0.17916	0.0430	N	0.03608	-0.345	0.80722	D	1	B;B	0.29862	0.026;0.259	B;B	0.32022	0.048;0.139	T	0.09292	-1.0681	10	0.66056	D	0.02	.	8.571	0.33569	0.0:0.0:0.1949:0.8051	.	267;267	E7END4;P58215	.;LOXL3_HUMAN	V	267	ENSP00000264094:D267V;ENSP00000387103:D267V;ENSP00000386696:D267V;ENSP00000398260:D267V	ENSP00000264094:D267V	D	-	2	0	LOXL3	74617456	0.963000	0.33076	1.000000	0.80357	0.981000	0.71138	1.207000	0.32333	2.080000	0.62538	0.460000	0.39030	GAC		0.642	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252215.1	NM_032603	
TACR1	6869	broad.mit.edu	37	2	75425881	75425881	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:75425881G>A	ENST00000305249.5	-	1	945	c.180C>T	c.(178-180)caC>caT	p.H60H	TACR1_ENST00000409848.3_Silent_p.H60H	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	60					acute inflammatory response (GO:0002526)|aggressive behavior (GO:0002118)|angiotensin-mediated drinking behavior (GO:0003051)|associative learning (GO:0008306)|behavioral response to pain (GO:0048266)|detection of abiotic stimulus (GO:0009582)|eating behavior (GO:0042755)|inflammatory response (GO:0006954)|long-term memory (GO:0007616)|operant conditioning (GO:0035106)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of action potential (GO:0045760)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of ossification (GO:0045778)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of saliva secretion (GO:0046878)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|positive regulation of vasoconstriction (GO:0045907)|regulation of smooth muscle cell migration (GO:0014910)|regulation of smooth muscle cell proliferation (GO:0048660)|response to auditory stimulus (GO:0010996)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to progesterone (GO:0032570)|smooth muscle contraction involved in micturition (GO:0060083)|sperm ejaculation (GO:0042713)|tachykinin receptor signaling pathway (GO:0007217)	cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance P receptor activity (GO:0016496)|tachykinin receptor activity (GO:0004995)	p.H60H(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	TCATTCTTTTGTGGGCTAAGA	0.517																																					p.H60H	Pancreas(64;62 1268 3653 14826 43765)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C180T	2						.						155.0	131.0	139.0					2																	75425881		2203	4300	6503	75279389	SO:0001819	synonymous_variant	6869	exon1			M76675	CCDS1958.1, CCDS46345.1	2p13.1-p12	2012-08-08			ENSG00000115353	ENSG00000115353		"""GPCR / Class A : Tachykinin receptors"""	11526	protein-coding gene	gene with protein product		162323		TAC1R		1657150	Standard	NM_001058		Approved	SPR, NK1R, NKIR	uc002sng.2	P25103	OTTHUMG00000129973	ENST00000305249.5:c.180C>T	2.37:g.75425881G>A			75279389	NM_015727	A8K150	Silent	SNP	ENST00000305249.5	37	CCDS1958.1																																																																																				0.517	TACR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252239.3	NM_001058	
CTNNA2	1496	broad.mit.edu	37	2	80816537	80816537	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:80816537G>A	ENST00000402739.4	+	14	2121	c.2116G>A	c.(2116-2118)Gac>Aac	p.D706N	AC008067.2_ENST00000430876.1_RNA|AC008067.2_ENST00000609950.1_RNA|CTNNA2_ENST00000466387.1_Missense_Mutation_p.D706N|CTNNA2_ENST00000361291.4_Missense_Mutation_p.D740N|CTNNA2_ENST00000343114.3_Missense_Mutation_p.D385N|CTNNA2_ENST00000540488.1_Missense_Mutation_p.D706N|CTNNA2_ENST00000496558.1_Missense_Mutation_p.D706N|AC008067.2_ENST00000596887.1_RNA|CTNNA2_ENST00000541047.1_Missense_Mutation_p.D706N|AC008067.2_ENST00000595478.1_RNA	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	706					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.D706N(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CAAATGGGACGACAGCGGCAA	0.502																																					p.D707N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2119A	2						.						129.0	139.0	136.0					2																	80816537		2199	4300	6499	80670048	SO:0001583	missense	1496	exon15				CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.2116G>A	2.37:g.80816537G>A	ENSP00000384638:p.Asp706Asn		80670048	NM_004389	B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37		.	.	.	.	.	.	.	.	.	.	G	24.0	4.487493	0.84854	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08;1.08	5.97	5.97	0.96955	.	0.101115	0.64402	D	0.000003	T	0.48429	0.1499	M	0.75150	2.29	0.80722	D	1	B;P;P;B	0.38788	0.321;0.616;0.647;0.444	B;B;B;B	0.36808	0.139;0.103;0.233;0.157	T	0.46428	-0.9192	9	.	.	.	.	20.4387	0.99107	0.0:0.0:1.0:0.0	.	338;706;706;706	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	N	706;706;740;706;706;706;385	ENSP00000418191:D706N;ENSP00000419295:D706N;ENSP00000355398:D740N;ENSP00000384638:D706N;ENSP00000444675:D706N;ENSP00000441705:D706N;ENSP00000341500:D385N	.	D	+	1	0	CTNNA2	80670048	1.000000	0.71417	0.989000	0.46669	0.999000	0.98932	9.623000	0.98386	2.836000	0.97738	0.655000	0.94253	GAC		0.502	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389	
TCF7L1	83439	broad.mit.edu	37	2	85532468	85532468	+	Missense_Mutation	SNP	G	G	A	rs144957884	byFrequency	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:85532468G>A	ENST00000282111.3	+	8	1206	c.931G>A	c.(931-933)Gtc>Atc	p.V311I		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	311	Pro-rich.				anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.V311I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						CCCTGCCATCGTCTCCCCCAT	0.657													G|||	3	0.000599042	0.0008	0.0	5008	,	,		14875	0.001		0.0	False		,,,				2504	0.001				p.V311I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G931A	2						.	G	ILE/VAL	3,4403	6.2+/-15.9	0,3,2200	66.0	64.0	65.0		931	4.3	1.0	2	dbSNP_134	65	0,8600		0,0,4300	yes	missense	TCF7L1	NM_031283.2	29	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	possibly-damaging	311/589	85532468	3,13003	2203	4300	6503	85385979	SO:0001583	missense	83439	exon8			X62870	CCDS1971.1	2p11.2	2008-02-05			ENSG00000152284	ENSG00000152284			11640	protein-coding gene	gene with protein product		604652		TCF3		1741298, 11085512	Standard	NM_031283		Approved		uc002soy.3	Q9HCS4	OTTHUMG00000130026	ENST00000282111.3:c.931G>A	2.37:g.85532468G>A	ENSP00000282111:p.Val311Ile		85385979	NM_031283	Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	ENST00000282111.3	37	CCDS1971.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	16.49	3.136789	0.56936	6.81E-4	0.0	ENSG00000152284	ENST00000282111	D	0.98617	-5.03	5.18	4.31	0.51392	.	0.000000	0.85682	D	0.000000	D	0.98767	0.9585	M	0.75264	2.295	0.36231	D	0.852611	D	0.76494	0.999	D	0.71184	0.972	D	0.99956	1.1622	10	0.52906	T	0.07	.	11.4911	0.50381	0.0882:0.0:0.9118:0.0	.	311	Q9HCS4	TF7L1_HUMAN	I	311	ENSP00000282111:V311I	ENSP00000282111:V311I	V	+	1	0	TCF7L1	85385979	1.000000	0.71417	1.000000	0.80357	0.114000	0.19823	9.828000	0.99408	1.177000	0.42855	-0.229000	0.12294	GTC		0.657	TCF7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252301.2	NM_031283	
PROM2	150696	broad.mit.edu	37	2	95941239	95941239	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:95941239C>T	ENST00000317620.9	+	2	408	c.275C>T	c.(274-276)gCc>gTc	p.A92V	PROM2_ENST00000463580.1_3'UTR|PROM2_ENST00000403131.2_Missense_Mutation_p.A92V|PROM2_ENST00000542147.1_Missense_Mutation_p.A92V|PROM2_ENST00000317668.4_Missense_Mutation_p.A92V	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	92					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						AATGAGCTGGCCTCCGTGAAG	0.602																																					p.A92V												.	.	0			c.C275T	2						.						99.0	87.0	91.0					2																	95941239		2203	4300	6503	95304966	SO:0001583	missense	150696	exon2			AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.275C>T	2.37:g.95941239C>T	ENSP00000318270:p.Ala92Val		95304966	NM_144707	A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Missense_Mutation	SNP	ENST00000317620.9	37	CCDS2012.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.519188	0.44866	.	.	ENSG00000155066	ENST00000403131;ENST00000317668;ENST00000317620;ENST00000542147	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	4.57	2.65	0.31530	.	1.178410	0.06360	N	0.711489	T	0.44829	0.1312	L	0.44542	1.39	0.09310	N	1	P	0.47484	0.896	P	0.49192	0.602	T	0.30563	-0.9974	10	0.27785	T	0.31	-1.8729	9.9509	0.41638	0.3679:0.6321:0.0:0.0	.	92	Q8N271	PROM2_HUMAN	V	92	ENSP00000385716:A92V;ENSP00000318520:A92V;ENSP00000318270:A92V;ENSP00000442542:A92V	ENSP00000318270:A92V	A	+	2	0	PROM2	95304966	0.000000	0.05858	0.005000	0.12908	0.606000	0.37113	0.853000	0.27777	0.546000	0.28920	0.462000	0.41574	GCC		0.602	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1	NM_144707	
SNRNP200	23020	broad.mit.edu	37	2	96944058	96944058	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:96944058G>A	ENST00000323853.5	-	39	5604	c.5527C>T	c.(5527-5529)Cga>Tga	p.R1843*	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1843	SEC63 2.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.R1843*(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						ATAAGCCCTCGCACCTTGGTC	0.507																																					p.R1843X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C5527T	2						.						161.0	139.0	147.0					2																	96944058		2203	4300	6503	96307785	SO:0001587	stop_gained	23020	exon39			AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.5527C>T	2.37:g.96944058G>A	ENSP00000317123:p.Arg1843*		96307785	NM_014014	O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Nonsense_Mutation	SNP	ENST00000323853.5	37	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	G	41	8.735991	0.98933	.	.	ENSG00000144028	ENST00000323853;ENST00000536601;ENST00000543553	.	.	.	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-5.0563	16.3832	0.83489	0.0:0.0:1.0:0.0	.	.	.	.	X	1843;302;426	.	ENSP00000317123:R1843X	R	-	1	2	SNRNP200	96307785	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.408000	0.80041	2.804000	0.96469	0.655000	0.94253	CGA		0.507	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014	
AFF3	3899	broad.mit.edu	37	2	100185368	100185368	+	Silent	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:100185368A>G	ENST00000409236.2	-	17	3040	c.2928T>C	c.(2926-2928)agT>agC	p.S976S	AFF3_ENST00000356421.2_Silent_p.S1001S|AFF3_ENST00000317233.4_Silent_p.S976S|AFF3_ENST00000409579.1_Silent_p.S1001S			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	976					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)	p.S1001S(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						AATAATCGGCACTGCGAGGCC	0.378																																					p.S1001S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T3003C	2						.						164.0	151.0	156.0					2																	100185368		2203	4300	6503	99551800	SO:0001819	synonymous_variant	3899	exon18			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.2928T>C	2.37:g.100185368A>G			99551800	NM_001025108	B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Silent	SNP	ENST00000409236.2	37	CCDS42723.1																																																																																				0.378	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285	
KIF1A	547	broad.mit.edu	37	2	241737106	241737106	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr2:241737106G>A	ENST00000320389.7	-	2	222	c.64C>T	c.(64-66)Cgt>Tgt	p.R22C	KIF1A_ENST00000498729.2_Missense_Mutation_p.R22C	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	22	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.R22C(1)		NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TTGGAGTCACGGCTCATTTCC	0.622																																					p.R22C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C64T	2						.						49.0	55.0	53.0					2																	241737106		2060	4183	6243	241385779	SO:0001583	missense	547	exon2			AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.64C>T	2.37:g.241737106G>A	ENSP00000322791:p.Arg22Cys		241385779	NM_004321	B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918471	0.73098	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283;ENST00000448728	T;T;T;D	0.88741	-0.99;-0.99;-0.99;-2.42	4.78	4.78	0.61160	Kinesin, motor domain (4);	0.165303	0.38272	U	0.001741	D	0.92528	0.7627	M	0.84683	2.71	0.46113	D	0.998878	D;D;D	0.69078	0.996;0.997;0.967	P;P;P	0.54372	0.75;0.689;0.581	D	0.93390	0.6751	10	0.87932	D	0	.	11.7938	0.52084	0.0:0.0:0.6984:0.3016	.	22;22;22	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	C	22	ENSP00000322791:R22C;ENSP00000438388:R22C;ENSP00000384231:R22C;ENSP00000398686:R22C	ENSP00000322791:R22C	R	-	1	0	KIF1A	241385779	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	4.686000	0.61700	2.360000	0.80028	0.467000	0.42956	CGT		0.622	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483	
TBC1D23	55773	broad.mit.edu	37	3	100009439	100009439	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr3:100009439G>A	ENST00000394144.4	+	5	501	c.494G>A	c.(493-495)gGg>gAg	p.G165E	TBC1D23_ENST00000344949.5_Missense_Mutation_p.G165E|TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000475134.1_Missense_Mutation_p.G28E	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	165	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				positive regulation of interleukin-6 production (GO:0032755)|regulation of inflammatory response (GO:0050727)|regulation of tumor necrosis factor production (GO:0032680)		Rab GTPase activator activity (GO:0005097)	p.G165E(1)		breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						TCCCAGAAAGGGAGACCATTT	0.388																																					p.G165E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G494A	3						.						82.0	84.0	83.0					3																	100009439		2203	4300	6503	101492129	SO:0001583	missense	55773	exon5			AK001908	CCDS2936.1, CCDS56265.1	3q12.2	2013-07-10			ENSG00000036054	ENSG00000036054			25622	protein-coding gene	gene with protein product						22312129	Standard	NM_001199198		Approved	FLJ11046	uc003dtt.4	Q9NUY8	OTTHUMG00000159067	ENST00000394144.4:c.494G>A	3.37:g.100009439G>A	ENSP00000377700:p.Gly165Glu		101492129	NM_001199198	B9A6M5|Q8TCN8|Q8WUB7|Q96D90|Q9NV75	Missense_Mutation	SNP	ENST00000394144.4	37	CCDS56265.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.009415	0.93346	.	.	ENSG00000036054	ENST00000485687;ENST00000344949;ENST00000394144;ENST00000471098;ENST00000475134	T;T;T;T;T	0.32023	3.59;3.59;3.59;3.59;1.47	5.98	5.98	0.97165	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.53578	0.1805	L	0.55103	1.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.986	T	0.35151	-0.9800	9	.	.	.	.	20.4561	0.99145	0.0:0.0:1.0:0.0	.	165;165	Q9NUY8;Q9NUY8-2	TBC23_HUMAN;.	E	173;165;165;151;28	ENSP00000417487:G173E;ENSP00000340693:G165E;ENSP00000377700:G165E;ENSP00000418714:G151E;ENSP00000418059:G28E	.	G	+	2	0	TBC1D23	101492129	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.181000	0.94874	2.847000	0.97988	0.591000	0.81541	GGG		0.388	TBC1D23-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353150.1	NM_018309	
ALCAM	214	broad.mit.edu	37	3	105252518	105252518	+	Silent	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr3:105252518A>G	ENST00000306107.5	+	5	1031	c.531A>G	c.(529-531)ctA>ctG	p.L177L	ALCAM_ENST00000389927.4_5'UTR|ALCAM_ENST00000472644.2_Silent_p.L177L|ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000486979.2_Silent_p.L126L	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	177	Ig-like V-type 2.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165)	axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	receptor binding (GO:0005102)	p.L177L(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						GAAAAGTGCTACATCCCCTTG	0.438																																					p.L177L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A531G	3						.						150.0	135.0	140.0					3																	105252518		2203	4300	6503	106735208	SO:0001819	synonymous_variant	214	exon5			AK054632	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	400	protein-coding gene	gene with protein product		601662	"""activated leucocyte cell adhesion molecule"""			7760007	Standard	NM_001627		Approved	CD166, MEMD	uc003dvx.3	Q13740	OTTHUMG00000159192	ENST00000306107.5:c.531A>G	3.37:g.105252518A>G			106735208	NM_001627	B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Silent	SNP	ENST00000306107.5	37	CCDS33810.1	.	.	.	.	.	.	.	.	.	.	A	11.84	1.757884	0.31137	.	.	ENSG00000170017	ENST00000465413	.	.	.	5.84	-6.64	0.01801	.	.	.	.	.	T	0.45836	0.1362	.	.	.	0.48185	D	0.999604	.	.	.	.	.	.	T	0.46233	-0.9206	4	.	.	.	-9.8313	5.9435	0.19205	0.3604:0.0:0.2433:0.3963	.	.	.	.	A	25	.	.	T	+	1	0	ALCAM	106735208	0.870000	0.30015	0.046000	0.18839	0.782000	0.44232	0.062000	0.14389	-2.006000	0.00958	-0.248000	0.11899	ACA		0.438	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353764.1	NM_001627	
HHLA2	11148	broad.mit.edu	37	3	108072380	108072380	+	Silent	SNP	C	C	T	rs370821029		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr3:108072380C>T	ENST00000357759.5	+	4	585	c.171C>T	c.(169-171)tcC>tcT	p.S57S	HHLA2_ENST00000491820.1_Silent_p.S57S|HHLA2_ENST00000489514.2_Silent_p.S57S|HHLA2_ENST00000467761.1_Silent_p.S57S|HHLA2_ENST00000467562.1_Intron	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	57					positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|T cell costimulation (GO:0031295)	integral component of membrane (GO:0016021)		p.S57S(1)		endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						AGAGGGGATCCGAAGTCGTAA	0.388																																					p.S57S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C171T	3						.	G		1,3711		0,1,1855	69.0	63.0	65.0		171	-8.7	0.0	3		65	0,8196		0,0,4098	no	coding-synonymous	HHLA2	NM_007072.2		0,1,5953	TT,TC,CC		0.0,0.0269,0.0084		57/415	108072380	1,11907	1856	4098	5954	109555070	SO:0001819	synonymous_variant	11148	exon4			AF126162	CCDS46883.1, CCDS63713.1, CCDS74975.1	3q13.13	2013-01-11			ENSG00000114455	ENSG00000114455		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	4905	protein-coding gene	gene with protein product		604371				10444326	Standard	NM_007072		Approved	B7H7	uc003dwz.3	Q9UM44	OTTHUMG00000159224	ENST00000357759.5:c.171C>T	3.37:g.108072380C>T			109555070	NM_007072	B4DKN2|D3DN60|Q9NWQ6	Silent	SNP	ENST00000357759.5	37	CCDS46883.1																																																																																				0.388	HHLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353924.1	NM_007072	
CD200R1	131450	broad.mit.edu	37	3	112647835	112647835	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr3:112647835C>T	ENST00000471858.1	-	4	760	c.528G>A	c.(526-528)gcG>gcA	p.A176A	CD200R1_ENST00000440122.2_3'UTR|CD200R1_ENST00000490004.1_3'UTR|CD200R1_ENST00000295863.4_Silent_p.A154A|CD200R1_ENST00000308611.3_Silent_p.A199A	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	176	Ig-like C2-type.				regulation of immune response (GO:0050776)|viral process (GO:0016032)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)		p.A199A(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						AGGAGATATGCGCAGCTGGCT	0.498																																					p.A176A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G528A	3						.						104.0	87.0	93.0					3																	112647835		2203	4300	6503	114130525	SO:0001819	synonymous_variant	131450	exon4			AK126349	CCDS2969.1, CCDS2970.1, CCDS46889.1, CCDS54623.1	3q13	2014-05-15	2004-08-31	2004-09-01	ENSG00000163606	ENSG00000163606		"""Immunoglobulin superfamily / C2-set domain containing"""	24235	protein-coding gene	gene with protein product		607546	"""MOX2 receptor"""	MOX2R		10981966, 11133863	Standard	NM_138806		Approved	OX2R, HCRTR2, CD200R	uc003dzj.1	Q8TD46	OTTHUMG00000159298	ENST00000471858.1:c.528G>A	3.37:g.112647835C>T			114130525	NM_170780	B3KWZ9|E9PCM9|Q52LJ7|Q6IS95|Q6UW94|Q6WHB8|Q8TD44|Q8TD45|Q8TD52	Silent	SNP	ENST00000471858.1	37	CCDS2970.1																																																																																				0.498	CD200R1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354467.1	NM_138806	
SPICE1	152185	broad.mit.edu	37	3	113187028	113187028	+	Silent	SNP	C	C	T	rs200801991		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr3:113187028C>T	ENST00000295872.4	-	10	1372	c.1113G>A	c.(1111-1113)tcG>tcA	p.S371S		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	371					metaphase plate congression (GO:0051310)|regulation of centriole replication (GO:0046599)|spindle assembly involved in mitosis (GO:0090307)	centriole (GO:0005814)|centrosome (GO:0005813)|spindle (GO:0005819)		p.S371S(1)		NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						AGCTCACCAGCGACAAAGTGA	0.473																																					p.S371S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1113A	3						.						145.0	140.0	141.0					3																	113187028		2203	4300	6503	114669718	SO:0001819	synonymous_variant	152185	exon10			AY099107	CCDS2973.1	3q13.2	2010-09-01	2010-09-01	2010-09-01	ENSG00000163611	ENSG00000163611			25083	protein-coding gene	gene with protein product	"""spindle and centriole protein"""	613447	"""coiled-coil domain containing 52"""	CCDC52		20736305	Standard	NM_144718		Approved	SPICE	uc003eag.4	Q8N0Z3	OTTHUMG00000159261	ENST00000295872.4:c.1113G>A	3.37:g.113187028C>T			114669718	NM_144718	D3DN72|Q8WUX6	Silent	SNP	ENST00000295872.4	37	CCDS2973.1																																																																																				0.473	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354177.2	NM_144718	
ATP6V1A	523	broad.mit.edu	37	3	113517174	113517174	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr3:113517174C>T	ENST00000273398.3	+	12	1483	c.1375C>T	c.(1375-1377)Cgt>Tgt	p.R459C	ATP6V1A_ENST00000538620.1_Missense_Mutation_p.R426C	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	459					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	ATP binding (GO:0005524)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)	p.R459C(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Alendronate(DB00630)|Etidronic acid(DB01077)|Tiludronate(DB01133)	CAAGTATATGCGTGCCTTGGA	0.423																																					p.R459C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1375T	3						.						184.0	168.0	174.0					3																	113517174		2203	4300	6503	114999864	SO:0001583	missense	523	exon12			L09235	CCDS2976.1	3q13.31	2010-04-21	2002-08-29	2003-04-25	ENSG00000114573	ENSG00000114573	3.6.3.14	"""ATPases / V-type"""	851	protein-coding gene	gene with protein product		607027	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha polypeptide, 70kD, isoform 1"""	VPP2, ATP6A1, ATP6V1A1		8463241	Standard	NM_001690		Approved	Vma1, VA68	uc003eao.3	P38606	OTTHUMG00000159295	ENST00000273398.3:c.1375C>T	3.37:g.113517174C>T	ENSP00000273398:p.Arg459Cys		114999864	NM_001690	B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Missense_Mutation	SNP	ENST00000273398.3	37	CCDS2976.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.713752	0.89112	.	.	ENSG00000114573	ENST00000545842;ENST00000273398;ENST00000538620	D;D	0.81659	-1.52;-1.52	5.32	4.44	0.53790	.	0.000000	0.85682	D	0.000000	D	0.88665	0.6498	M	0.89840	3.065	0.80722	D	1	D	0.69078	0.997	P	0.55260	0.772	D	0.91031	0.4864	10	0.72032	D	0.01	-1.8482	14.3562	0.66740	0.0:0.9272:0.0:0.0728	.	459	P38606	VATA_HUMAN	C	176;459;426	ENSP00000273398:R459C;ENSP00000439874:R426C	ENSP00000273398:R459C	R	+	1	0	ATP6V1A	114999864	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.757000	0.68766	2.503000	0.84419	0.555000	0.69702	CGT		0.423	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354457.1	NM_001690	
GPR156	165829	broad.mit.edu	37	3	119886517	119886517	+	Missense_Mutation	SNP	G	G	A	rs143524747	byFrequency	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr3:119886517G>A	ENST00000464295.1	-	10	2252	c.1807C>T	c.(1807-1809)Cgg>Tgg	p.R603W	GPR156_ENST00000461057.1_Missense_Mutation_p.R599W|GPR156_ENST00000315843.3_Missense_Mutation_p.R603W			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	603	Poly-Arg.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)	p.R603W(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		TGAGCTGCCCGCCTTCTCCTC	0.592													G|||	5	0.000998403	0.0	0.0	5008	,	,		18256	0.0		0.005	False		,,,				2504	0.0				p.R599W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1795T	3						.	G	TRP/ARG,TRP/ARG	6,4400	11.4+/-27.6	0,6,2197	34.0	36.0	35.0		1795,1807	2.2	0.4	3	dbSNP_134	35	10,8590	7.7+/-29.5	0,10,4290	yes	missense,missense	GPR156	NM_001168271.1,NM_153002.2	101,101	0,16,6487	AA,AG,GG		0.1163,0.1362,0.123	probably-damaging,probably-damaging	599/811,603/815	119886517	16,12990	2203	4300	6503	121369207	SO:0001583	missense	165829	exon9			AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"""GPCR / Class C : Orphans"""	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.1807C>T	3.37:g.119886517G>A	ENSP00000417261:p.Arg603Trp		121369207	NM_001168271	B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Missense_Mutation	SNP	ENST00000464295.1	37	CCDS2997.1	5	0.0022893772893772895	0	0.0	0	0.0	0	0.0	5	0.006596306068601583	G	13.65	2.299061	0.40694	0.001362	0.001163	ENSG00000175697	ENST00000464295;ENST00000315843;ENST00000461057	T;T;T	0.58210	0.35;0.35;0.38	5.07	2.19	0.27852	.	0.100557	0.43416	D	0.000577	T	0.43986	0.1272	L	0.36672	1.1	0.36916	D	0.891145	D;D	0.89917	1.0;1.0	P;P	0.61003	0.882;0.882	T	0.50575	-0.8812	9	.	.	.	-6.335	5.9095	0.19020	0.0732:0.1276:0.6392:0.1599	.	599;603	E9PFZ4;Q8NFN8	.;GP156_HUMAN	W	603;603;599	ENSP00000417261:R603W;ENSP00000324553:R603W;ENSP00000418758:R599W	.	R	-	1	2	GPR156	121369207	0.238000	0.23825	0.390000	0.26220	0.037000	0.13140	1.415000	0.34748	0.271000	0.22005	0.557000	0.71058	CGG		0.592	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355139.1	NM_153002	
ILDR1	286676	broad.mit.edu	37	3	121712023	121712023	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr3:121712023T>C	ENST00000344209.5	-	7	1699	c.1573A>G	c.(1573-1575)Aaa>Gaa	p.K525E	ILDR1_ENST00000462014.1_Missense_Mutation_p.K493E|ILDR1_ENST00000393631.1_Missense_Mutation_p.K436E|ILDR1_ENST00000273691.3_Missense_Mutation_p.K481E|ILDR1_ENST00000460554.1_5'UTR	NM_001199799.1	NP_001186728.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	525					positive regulation of peptide hormone secretion (GO:0090277)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-density lipoprotein particle receptor activity (GO:0070506)	p.K481E(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		CTCCCTTTTTTCCTGCTATTC	0.642																																					p.K481E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1441G	3						.						41.0	32.0	35.0					3																	121712023		2203	4300	6503	123194713	SO:0001583	missense	286676	exon6			BC044240	CCDS3008.1, CCDS56270.1, CCDS56271.1	3q21.1	2013-10-11			ENSG00000145103	ENSG00000145103			28741	protein-coding gene	gene with protein product		609739	"""deafness, autosomal recessive 42"""	DFNB42		15641023, 21255762	Standard	NM_175924		Approved	MGC50831	uc003ees.3	Q86SU0	OTTHUMG00000159481	ENST00000344209.5:c.1573A>G	3.37:g.121712023T>C	ENSP00000345667:p.Lys525Glu		123194713	NM_175924	Q6ZP61|Q7Z578	Missense_Mutation	SNP	ENST00000344209.5	37	CCDS56271.1	.	.	.	.	.	.	.	.	.	.	T	17.60	3.429785	0.62844	.	.	ENSG00000145103	ENST00000273691;ENST00000344209;ENST00000393631;ENST00000462014	T;T;T;T	0.78003	-0.56;-0.51;-1.14;-0.16	5.76	4.58	0.56647	.	0.602188	0.19091	N	0.122942	T	0.70868	0.3273	L	0.51422	1.61	0.37890	D	0.930677	B;B;B;B	0.32829	0.386;0.267;0.386;0.386	B;B;B;B	0.31101	0.124;0.058;0.124;0.124	T	0.71873	-0.4461	10	0.59425	D	0.04	-7.3786	10.219	0.43186	0.0:0.0:0.3209:0.679	.	436;525;481;493	Q86SU0-5;Q86SU0;Q86SU0-2;Q86SU0-6	.;ILDR1_HUMAN;.;.	E	481;525;436;493	ENSP00000273691:K481E;ENSP00000345667:K525E;ENSP00000377251:K436E;ENSP00000419414:K493E	ENSP00000273691:K481E	K	-	1	0	ILDR1	123194713	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	1.466000	0.35310	0.974000	0.38366	0.460000	0.39030	AAA		0.642	ILDR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355666.1	NM_175924	
ILDR1	286676	broad.mit.edu	37	3	121726004	121726004	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr3:121726004G>C	ENST00000344209.5	-	2	189	c.63C>G	c.(61-63)tgC>tgG	p.C21W	ILDR1_ENST00000462014.1_Missense_Mutation_p.C33W|ILDR1_ENST00000393631.1_Missense_Mutation_p.C21W|ILDR1_ENST00000273691.3_Missense_Mutation_p.C21W|ILDR1_ENST00000460554.1_5'UTR	NM_001199799.1	NP_001186728.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	21					positive regulation of peptide hormone secretion (GO:0090277)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-density lipoprotein particle receptor activity (GO:0070506)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		GCAAGGACAGGCACCCTAAAG	0.502																																					p.C21W												.	.	0			c.C63G	3						.						144.0	110.0	121.0					3																	121726004		2203	4300	6503	123208694	SO:0001583	missense	286676	exon2			BC044240	CCDS3008.1, CCDS56270.1, CCDS56271.1	3q21.1	2013-10-11			ENSG00000145103	ENSG00000145103			28741	protein-coding gene	gene with protein product		609739	"""deafness, autosomal recessive 42"""	DFNB42		15641023, 21255762	Standard	NM_175924		Approved	MGC50831	uc003ees.3	Q86SU0	OTTHUMG00000159481	ENST00000344209.5:c.63C>G	3.37:g.121726004G>C	ENSP00000345667:p.Cys21Trp		123208694	NM_175924	Q6ZP61|Q7Z578	Missense_Mutation	SNP	ENST00000344209.5	37	CCDS56271.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.045111	0.55110	.	.	ENSG00000145103	ENST00000273691;ENST00000344209;ENST00000383663;ENST00000393631;ENST00000462014	T;T;T;T	0.66460	0.53;0.53;0.53;-0.21	5.43	-2.39	0.06602	.	0.288824	0.41294	D	0.000918	T	0.71065	0.3296	L	0.47716	1.5	0.54753	D	0.999981	D;B;D;B	0.76494	0.999;0.275;0.999;0.395	D;B;D;B	0.72075	0.976;0.031;0.976;0.068	T	0.68330	-0.5437	10	0.87932	D	0	-26.3906	10.9634	0.47397	0.5547:0.0:0.4453:0.0	.	21;21;21;33	Q86SU0-5;Q86SU0;Q86SU0-2;Q86SU0-6	.;ILDR1_HUMAN;.;.	W	21;21;21;21;33	ENSP00000273691:C21W;ENSP00000345667:C21W;ENSP00000377251:C21W;ENSP00000419414:C33W	ENSP00000273691:C21W	C	-	3	2	ILDR1	123208694	0.994000	0.37717	0.745000	0.31077	0.999000	0.98932	0.138000	0.16016	-0.951000	0.03654	0.650000	0.86243	TGC		0.502	ILDR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355666.1	NM_175924	
IQSEC1	9922	broad.mit.edu	37	3	12966208	12966208	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr3:12966208G>A	ENST00000273221.4	-	4	1861	c.1645C>T	c.(1645-1647)Cgt>Tgt	p.R549C		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	549	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.R549C(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACAAAGCCACGCTCGATGAGG	0.672																																					p.R549C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1645T	3						.						76.0	73.0	74.0					3																	12966208		2203	4300	6503	12941208	SO:0001583	missense	9922	exon4			BC010267	CCDS33703.1, CCDS74902.1	3p25.2	2011-09-23			ENSG00000144711	ENSG00000144711			29112	protein-coding gene	gene with protein product	"""brefeldin A-resistant ARF-GEF2"""	610166				9872452, 8619474	Standard	NM_001134382		Approved	KIAA0763, GEP100, BRAG2, ARF-GEP100	uc011auw.2	Q6DN90	OTTHUMG00000155398	ENST00000273221.4:c.1645C>T	3.37:g.12966208G>A	ENSP00000273221:p.Arg549Cys		12941208	NM_014869	O94863|Q96D85	Missense_Mutation	SNP	ENST00000273221.4	37	CCDS33703.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.23|18.23	3.577274|3.577274	0.65878|0.65878	.|.	.|.	ENSG00000144711|ENSG00000144711	ENST00000450726|ENST00000273221;ENST00000435445;ENST00000429247	.|T;T	.|0.56275	.|0.47;0.47	4.28|4.28	4.28|4.28	0.50868|0.50868	.|SEC7-like (4);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.70298|0.70298	0.3208|0.3208	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.998;1.0;0.997	.|D;D;D	.|0.76575	.|0.953;0.988;0.932	T|T	0.74383|0.74383	-0.3683|-0.3683	4|9	.|0.87932	.|D	.|0	.|.	11.1998|11.1998	0.48734|0.48734	0.0:0.0:0.6785:0.3215|0.0:0.0:0.6785:0.3215	.|.	.|535;535;549	.|E9PG60;C9JMG9;Q6DN90	.|.;.;IQEC1_HUMAN	V|C	549|549;535;535	.|ENSP00000273221:R549C;ENSP00000402299:R535C	.|ENSP00000273221:R549C	A|R	-|-	2|1	0|0	IQSEC1|IQSEC1	12941208|12941208	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.990000|0.990000	0.78478|0.78478	1.901000|1.901000	0.39838|0.39838	2.085000|2.085000	0.62840|0.62840	0.655000|0.655000	0.94253|0.94253	GCG|CGT		0.672	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339865.2	NM_014869	
SLC41A3	54946	broad.mit.edu	37	3	125726013	125726013	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr3:125726013G>A	ENST00000315891.6	-	11	1548	c.1310C>T	c.(1309-1311)gCc>gTc	p.A437V	SLC41A3_ENST00000383598.2_Missense_Mutation_p.A411V|SLC41A3_ENST00000346785.5_Missense_Mutation_p.A401V|SLC41A3_ENST00000508835.1_Missense_Mutation_p.A320V|SLC41A3_ENST00000360370.4_Missense_Mutation_p.A437V	NM_001008485.1|NM_017836.3	NP_001008485|NP_060306.3	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	437						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)	p.A411V(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		AGGATCCAGGGCCTGGTGCCA	0.552																																					p.A437V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1310T	3						.						81.0	73.0	76.0					3																	125726013		2203	4300	6503	127208703	SO:0001583	missense	54946	exon11				CCDS33842.1, CCDS33843.1, CCDS33844.1, CCDS43144.1, CCDS54635.1	3q21.2	2013-09-02			ENSG00000114544	ENSG00000114544		"""Solute carriers"""	31046	protein-coding gene	gene with protein product		610803					Standard	NM_001164475		Approved	FLJ20473	uc003eij.3	Q96GZ6	OTTHUMG00000162678	ENST00000315891.6:c.1310C>T	3.37:g.125726013G>A	ENSP00000326070:p.Ala437Val		127208703	NM_001008485	A6ND60|B3KSD9|B7Z4Y2|C9JE96|E7ENY4|Q8N342|Q8NB27|Q9H9I6|Q9HAB1|Q9NX30	Missense_Mutation	SNP	ENST00000315891.6	37	CCDS33843.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.576463	0.86645	.	.	ENSG00000114544	ENST00000360370;ENST00000346785;ENST00000383598;ENST00000458524;ENST00000315891;ENST00000508835	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53	5.52	5.52	0.82312	MgtE magnesium transporter, integral membrane (1);	0.559005	0.20042	N	0.100489	T	0.47619	0.1455	L	0.54323	1.7	0.44587	D	0.997559	P;P;D;D;P	0.58970	0.802;0.931;0.984;0.975;0.64	P;P;P;P;P	0.62813	0.626;0.848;0.849;0.907;0.492	T	0.39231	-0.9624	10	0.62326	D	0.03	1.5914	12.6201	0.56597	0.0:0.1669:0.8331:0.0	.	320;437;401;437;411	B7Z4Y2;E7ENY4;Q96GZ6-3;Q96GZ6;Q96GZ6-7	.;.;.;S41A3_HUMAN;.	V	437;401;411;428;437;320	ENSP00000353533:A437V;ENSP00000264471:A401V;ENSP00000373092:A411V;ENSP00000326070:A437V;ENSP00000427409:A320V	ENSP00000326070:A437V	A	-	2	0	SLC41A3	127208703	0.998000	0.40836	1.000000	0.80357	0.874000	0.50279	3.383000	0.52471	2.596000	0.87737	0.591000	0.81541	GCC		0.552	SLC41A3-024	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370886.1	NM_017836	
KIAA1257	57501	broad.mit.edu	37	3	128690182	128690182	+	Silent	SNP	G	G	A	rs376360333		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr3:128690182G>A	ENST00000265068.5	-	8	1283	c.1116C>T	c.(1114-1116)ccC>ccT	p.P372P	KIAA1257_ENST00000515659.1_Silent_p.P260P|RP11-723O4.6_ENST00000508239.1_5'Flank|KIAA1257_ENST00000511438.1_Silent_p.P372P	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	372								p.P372P(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						TCTGCTTCCTGGGGCCTGTCA	0.572											OREG0015784	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P372P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1116T	3						.	G		0,4268		0,0,2134	88.0	100.0	96.0		1116	-2.5	0.0	3		96	1,8481		0,1,4240	no	coding-synonymous	KIAA1257	NM_020741.2		0,1,6374	AA,AG,GG		0.0118,0.0,0.0078		372/410	128690182	1,12749	2134	4241	6375	130172872	SO:0001819	synonymous_variant	57501	exon8			AB033083	CCDS46905.1	3q21.3	2011-11-07			ENSG00000114656	ENSG00000114656			29231	protein-coding gene	gene with protein product						10574462	Standard	NM_020741		Approved		uc003elj.4	Q9ULG3	OTTHUMG00000159946	ENST00000265068.5:c.1116C>T	3.37:g.128690182G>A		1566	130172872	NM_020741	Q8IXY7|Q8N5T4	Silent	SNP	ENST00000265068.5	37	CCDS46905.1																																																																																				0.572	KIAA1257-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000358430.1	NM_020741	
TMCC1	23023	broad.mit.edu	37	3	129546849	129546849	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr3:129546849G>A	ENST00000393238.3	-	3	713	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W	TMCC1_ENST00000426664.2_Missense_Mutation_p.R11W	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	125						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.R125W(2)	PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GGCTTGCCCCGCCTACTATGC	0.562																																					p.R125W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C373T	3						.						99.0	91.0	94.0					3																	129546849		2203	4300	6503	131029539	SO:0001583	missense	23023	exon3			AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.373C>T	3.37:g.129546849G>A	ENSP00000376930:p.Arg125Trp		131029539	NM_001017395	A8K5Y3|B4DE04|Q68E06|Q8IXM8	Missense_Mutation	SNP	ENST00000393238.3	37	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.926825	0.52759	.	.	ENSG00000172765	ENST00000393238;ENST00000426664;ENST00000505616	T;T;T	0.56103	0.93;1.16;0.48	5.98	5.1	0.69264	.	0.067707	0.64402	D	0.000013	T	0.49575	0.1565	L	0.58101	1.795	0.80722	D	1	B	0.06786	0.001	B	0.01281	0.0	T	0.49062	-0.8978	10	0.62326	D	0.03	-11.9587	12.2412	0.54544	0.0656:0.1208:0.8136:0.0	.	125	O94876	TMCC1_HUMAN	W	125;11;11	ENSP00000376930:R125W;ENSP00000389892:R11W;ENSP00000422544:R11W	ENSP00000376930:R125W	R	-	1	2	TMCC1	131029539	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.335000	0.79234	1.514000	0.48869	0.591000	0.81541	CGG		0.562	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008	
FBLN2	2199	broad.mit.edu	37	3	13669383	13669383	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr3:13669383G>A	ENST00000295760.7	+	10	2411	c.2342G>A	c.(2341-2343)tGc>tAc	p.C781Y	FBLN2_ENST00000535798.1_Missense_Mutation_p.C807Y|FBLN2_ENST00000492059.1_Missense_Mutation_p.C828Y|FBLN2_ENST00000404922.3_Missense_Mutation_p.C828Y	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	781	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)	p.C247Y(1)|p.C828Y(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GGCTTCTTGTGCCAGAACACC	0.647																																					p.V781V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2343A	3						.						41.0	46.0	44.0					3																	13669383		2074	4198	6272	13644384	SO:0001583	missense	2199	exon10			X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.2342G>A	3.37:g.13669383G>A	ENSP00000295760:p.Cys781Tyr		13644384	NM_001998	B7Z9C5|Q8IUI0|Q8IUI1	Missense_Mutation	SNP	ENST00000295760.7	37	CCDS46762.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232576	0.79688	.	.	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059	D;D;D;D	0.99445	-5.91;-5.91;-5.91;-5.91	5.74	5.74	0.90152	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);	0.000000	0.85682	D	0.000000	D	0.99764	0.9904	H	0.98199	4.17	0.80722	D	1	D;D;D	0.63046	0.988;0.986;0.992	D;D;D	0.71870	0.975;0.937;0.937	D	0.97189	0.9856	10	0.87932	D	0	.	19.5228	0.95192	0.0:0.0:1.0:0.0	.	781;828;807	P98095;P98095-2;F5H1F3	FBLN2_HUMAN;.;.	Y	807;828;781;828	ENSP00000445705:C807Y;ENSP00000384169:C828Y;ENSP00000295760:C781Y;ENSP00000420042:C828Y	ENSP00000295760:C781Y	C	+	2	0	FBLN2	13644384	1.000000	0.71417	0.998000	0.56505	0.509000	0.34042	9.264000	0.95635	2.721000	0.93114	0.609000	0.83330	TGC		0.647	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019	
ASTE1	28990	broad.mit.edu	37	3	130735004	130735004	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr3:130735004C>A	ENST00000264992.3	-	5	2134	c.1693G>T	c.(1693-1695)Gag>Tag	p.E565*	ATP2C1_ENST00000393221.4_Silent_p.L945L|ATP2C1_ENST00000504381.1_Silent_p.L866L|ATP2C1_ENST00000507488.2_Silent_p.L895L|ATP2C1_ENST00000533801.2_Silent_p.L916L|ATP2C1_ENST00000328560.8_Missense_Mutation_p.L880M|ASTE1_ENST00000514044.1_Nonsense_Mutation_p.E565*|ATP2C1_ENST00000359644.3_Silent_p.L921L|ATP2C1_ENST00000422190.2_Silent_p.L911L|ATP2C1_ENST00000513801.1_Silent_p.L895L	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	565					DNA repair (GO:0006281)		nuclease activity (GO:0004518)	p.E565*(1)|p.L921L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						AGGTCTGGCTCTGGGAGAGGA	0.448																																					p.E565X												.	.	2	Substitution - Nonsense(1)|Substitution - coding silent(1)	large_intestine(2)	c.G1693T	3						.						98.0	92.0	94.0					3																	130735004		2203	4300	6503	132217694	SO:0001587	stop_gained	28990	exon5			AF113539	CCDS3068.1, CCDS75007.1	3q21.3	2005-11-17			ENSG00000034533	ENSG00000034533			25021	protein-coding gene	gene with protein product							Standard	NM_014065		Approved	HT001	uc003env.1	Q2TB18	OTTHUMG00000159644	ENST00000264992.3:c.1693G>T	3.37:g.130735004C>A	ENSP00000264992:p.Glu565*		132217694	NM_014065	B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Nonsense_Mutation	SNP	ENST00000264992.3	37	CCDS3068.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	37|37|37	6.608613|6.608613|6.608613	0.97701|0.97701|0.97701	.|.|.	.|.|.	ENSG00000034533|ENSG00000017260|ENSG00000017260	ENST00000514044;ENST00000264992|ENST00000328560|ENST00000504612	.|D|.	.|0.93953|.	.|-3.32|.	5.71|5.71|5.71	5.71|5.71|5.71	0.89125|0.89125|0.89125	.|.|.	0.137530|.|.	0.64402|.|.	D|.|.	0.000003|.|.	.|T|T	.|0.71384|0.71384	.|0.3333|0.3333	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|B|.	.|0.21753|.	.|0.06|.	.|B|.	.|0.28709|.	.|0.093|.	.|T|T	.|0.69331|0.69331	.|-0.5173|-0.5173	.|8|4	0.39692|0.48119|.	T|T|.	0.17|0.1|.	-30.1624|-30.1624|-30.1624	15.0173|15.0173|15.0173	0.71597|0.71597|0.71597	0.0:0.858:0.142:0.0|0.0:0.858:0.142:0.0|0.0:0.858:0.142:0.0	.|.|.	.|880|.	.|P98194-2|.	.|.|.	X|M|Y	565|880|875	.|ENSP00000329664:L880M|.	ENSP00000264992:E565X|ENSP00000329664:L880M|.	E|L|S	-|+|+	1|1|2	0|2|0	ASTE1|ATP2C1|ATP2C1	132217694|132217694|132217694	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.674000|0.674000|0.674000	0.39518|0.39518|0.39518	4.372000|4.372000|4.372000	0.59530|0.59530|0.59530	2.694000|2.694000|2.694000	0.91930|0.91930|0.91930	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAG|CTG|TCT		0.448	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356659.1	NM_014065	
MSL2	55167	broad.mit.edu	37	3	135913874	135913874	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr3:135913874A>G	ENST00000309993.2	-	1	814	c.82T>C	c.(82-84)Ttt>Ctt	p.F28L	MSL2_ENST00000434835.2_5'Flank	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	28	Sufficient for interaction with MSL1.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.F28L(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						ATCTCAGTAAACGCCTTGGGG	0.502																																					p.F28L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T82C	3						.						188.0	199.0	195.0					3																	135913874		2203	4300	6503	137396564	SO:0001583	missense	55167	exon1			AK001408	CCDS33861.1, CCDS46922.1	3q22.2	2008-10-29	2008-10-29	2008-10-29	ENSG00000174579	ENSG00000174579		"""RING-type (C3HC4) zinc fingers"""	25544	protein-coding gene	gene with protein product	"""male-specific lethal-2 homolog (Drosophila)"""	614802	"""ring finger protein 184"", ""male-specific lethal 2-like 1 (Drosophila)"""	RNF184, MSL2L1		16227571, 16543150	Standard	NM_018133		Approved	FLJ10546, KIAA1585, msl-2	uc003eqx.1	Q9HCI7	OTTHUMG00000159793	ENST00000309993.2:c.82T>C	3.37:g.135913874A>G	ENSP00000311827:p.Phe28Leu		137396564	NM_018133	B4DYL4|G5E9I1|Q0D2P1|Q8NDB4|Q9NVS4	Missense_Mutation	SNP	ENST00000309993.2	37	CCDS33861.1	.	.	.	.	.	.	.	.	.	.	A	9.929	1.214379	0.22289	.	.	ENSG00000174579	ENST00000309993	.	.	.	5.18	5.18	0.71444	.	0.280812	0.29565	N	0.011799	T	0.27278	0.0669	N	0.04090	-0.28	0.80722	D	1	B	0.09022	0.002	B	0.14023	0.01	T	0.19128	-1.0315	9	0.02654	T	1	-3.5612	13.8721	0.63626	1.0:0.0:0.0:0.0	.	28	Q9HCI7	MSL2_HUMAN	L	28	.	ENSP00000311827:F28L	F	-	1	0	MSL2	137396564	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.025000	0.76449	1.966000	0.57179	0.459000	0.35465	TTT		0.502	MSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357347.1	NM_018133	
CEP70	80321	broad.mit.edu	37	3	138219016	138219016	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr3:138219016T>C	ENST00000264982.3	-	16	1854	c.1588A>G	c.(1588-1590)Agg>Ggg	p.R530G	CEP70_ENST00000484888.1_Missense_Mutation_p.R530G|CEP70_ENST00000481834.1_Missense_Mutation_p.R530G|CEP70_ENST00000542237.1_Missense_Mutation_p.R510G|CEP70_ENST00000489254.1_Missense_Mutation_p.R378G	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	530					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)		p.R530G(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						TTAATCAGCCTACAGAGTTTT	0.353																																					p.R530G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1588G	3						.						99.0	108.0	105.0					3																	138219016		2203	4300	6503	139701706	SO:0001583	missense	80321	exon16			AF202146	CCDS3102.1, CCDS75022.1, CCDS75023.1, CCDS75024.1	3q22.3	2014-02-20			ENSG00000114107	ENSG00000114107			29972	protein-coding gene	gene with protein product		614310				14654843	Standard	XM_005247802		Approved	BITE, FLJ13036	uc003esl.3	Q8NHQ1	OTTHUMG00000159891	ENST00000264982.3:c.1588A>G	3.37:g.138219016T>C	ENSP00000264982:p.Arg530Gly		139701706	NM_024491	B7Z5I8|B7Z7E8|D3DNE9|F5GZX8|Q96B31|Q9H2C3|Q9H2Z1|Q9H940	Missense_Mutation	SNP	ENST00000264982.3	37	CCDS3102.1	.	.	.	.	.	.	.	.	.	.	T	11.39	1.623849	0.28889	.	.	ENSG00000114107	ENST00000264982;ENST00000542237;ENST00000489254;ENST00000484888;ENST00000474781;ENST00000459695;ENST00000481834	T;T;T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83;1.83;1.83	5.21	2.73	0.32206	.	0.777162	0.13104	N	0.413515	T	0.20495	0.0493	L	0.43152	1.355	0.09310	N	1	B;B;B;B	0.25904	0.122;0.058;0.137;0.058	B;B;B;B	0.25291	0.059;0.04;0.037;0.04	T	0.20338	-1.0278	10	0.36615	T	0.2	0.0014	7.0834	0.25244	0.0:0.18:0.0:0.82	.	378;510;530;530	B7Z2D2;F5GZX8;Q8NHQ1-2;Q8NHQ1	.;.;.;CEP70_HUMAN	G	530;510;378;530;512;3;530	ENSP00000264982:R530G;ENSP00000444128:R510G;ENSP00000417821:R378G;ENSP00000419231:R530G;ENSP00000419833:R512G;ENSP00000418552:R3G;ENSP00000417465:R530G	ENSP00000264982:R530G	R	-	1	2	CEP70	139701706	0.006000	0.16342	0.251000	0.24312	0.973000	0.67179	0.418000	0.21230	0.412000	0.25729	0.533000	0.62120	AGG		0.353	CEP70-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358001.1	NM_024491	
ZBTB38	253461	broad.mit.edu	37	3	141162762	141162762	+	Missense_Mutation	SNP	C	C	T	rs368195627		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr3:141162762C>T	ENST00000514251.1	+	4	1811	c.1532C>T	c.(1531-1533)aCg>aTg	p.T511M	ZBTB38_ENST00000441582.2_Missense_Mutation_p.T511M|ZBTB38_ENST00000321464.5_Missense_Mutation_p.T512M					zinc finger and BTB domain containing 38									p.T511M(1)		breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						ATTTGGCATACGGGAGAAAGA	0.393																																					p.T511M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1532T	3						.	C	MET/THR	1,3807		0,1,1903	95.0	87.0	90.0		1532	5.4	0.9	3		90	0,8250		0,0,4125	no	missense	ZBTB38	NM_001080412.2	81	0,1,6028	TT,TC,CC		0.0,0.0263,0.0083	probably-damaging	511/1196	141162762	1,12057	1904	4125	6029	142645452	SO:0001583	missense	253461	exon8			BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.1532C>T	3.37:g.141162762C>T	ENSP00000426387:p.Thr511Met		142645452	NM_001080412		Missense_Mutation	SNP	ENST00000514251.1	37	CCDS43157.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.208214	0.79240	2.63E-4	0.0	ENSG00000177311	ENST00000509883;ENST00000514251;ENST00000441582;ENST00000321464	T;T;T;T	0.26373	1.74;1.74;1.74;1.74	5.39	5.39	0.77823	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.53578	0.1805	M	0.73430	2.235	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.51949	-0.8640	9	.	.	.	-21.6248	19.1701	0.93574	0.0:1.0:0.0:0.0	.	512;511	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	M	511;511;511;512	ENSP00000424254:T511M;ENSP00000426387:T511M;ENSP00000406955:T511M;ENSP00000372635:T512M	.	T	+	2	0	ZBTB38	142645452	1.000000	0.71417	0.895000	0.35142	0.975000	0.68041	7.487000	0.81328	2.543000	0.85770	0.650000	0.86243	ACG		0.393	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2		
ATR	545	broad.mit.edu	37	3	142222246	142222246	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr3:142222246A>G	ENST00000350721.4	-	30	5367	c.5246T>C	c.(5245-5247)cTg>cCg	p.L1749P	ATR_ENST00000383101.3_Missense_Mutation_p.L1685P	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1749	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.L1749P(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						AACAGTAGACAGCTGACCAAG	0.294								Other conserved DNA damage response genes																													p.L1749P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T5246C	3						.						55.0	54.0	54.0					3																	142222246		2203	4296	6499	143704936	SO:0001583	missense	545	exon30			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.5246T>C	3.37:g.142222246A>G	ENSP00000343741:p.Leu1749Pro		143704936	NM_001184	Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	A	14.89	2.670514	0.47781	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.03745	3.82;3.86	5.34	5.34	0.76211	PIK-related kinase (1);Tetratricopeptide-like helical (1);	0.000000	0.64402	D	0.000001	T	0.04679	0.0127	L	0.47190	1.495	0.80722	D	1	P	0.44281	0.831	B	0.36666	0.23	T	0.54063	-0.8349	10	0.29301	T	0.29	-9.5255	15.2809	0.73784	1.0:0.0:0.0:0.0	.	1749	Q13535	ATR_HUMAN	P	1749;1685	ENSP00000343741:L1749P;ENSP00000372581:L1685P	ENSP00000343741:L1749P	L	-	2	0	ATR	143704936	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.616000	0.90924	2.138000	0.66242	0.482000	0.46254	CTG		0.294	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184	
KCNAB1	7881	broad.mit.edu	37	3	156009787	156009787	+	Intron	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr3:156009787A>G	ENST00000490337.1	+	2	339				KCNAB1_ENST00000389636.5_Intron|KCNAB1_ENST00000471742.1_Intron|KCNAB1_ENST00000302490.8_Missense_Mutation_p.N31D|KCNAB1_ENST00000389634.5_Missense_Mutation_p.N31D	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1						learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)	p.N31D(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CACCGCCCCCAATGTGGTGAA	0.572																																					p.N31D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A91G	3						.						68.0	64.0	65.0					3																	156009787		2203	4300	6503	157492481	SO:0001627	intron_variant	7881	exon1			U33428	CCDS3174.1, CCDS3175.1, CCDS33882.1	3q26.1	2006-11-29			ENSG00000169282	ENSG00000169282		"""Potassium channels"", ""Aldo-keto reductases"""	6228	protein-coding gene	gene with protein product		601141				8838324, 7499366	Standard	NM_172160		Approved	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3	uc003far.2	Q14722	OTTHUMG00000158552	ENST00000490337.1:c.276-129618A>G	3.37:g.156009787A>G			157492481	NM_172159	A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Missense_Mutation	SNP	ENST00000490337.1	37	CCDS3174.1	.	.	.	.	.	.	.	.	.	.	A	17.24	3.338437	0.60963	.	.	ENSG00000169282	ENST00000302490;ENST00000389634	T;T	0.10192	3.25;2.9	5.04	2.65	0.31530	.	0.106108	0.64402	D	0.000007	T	0.10252	0.0251	L	0.55481	1.735	0.47994	D	0.999567	B;B	0.09022	0.002;0.001	B;B	0.10450	0.005;0.003	T	0.15694	-1.0428	10	0.20519	T	0.43	.	8.8347	0.35104	0.8433:0.0:0.1567:0.0	.	31;31	F8W6W4;B3KPZ4	.;.	D	31	ENSP00000305858:N31D;ENSP00000374285:N31D	ENSP00000305858:N31D	N	+	1	0	KCNAB1	157492481	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.163000	0.71880	0.279000	0.22186	0.377000	0.23210	AAT		0.572	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351411.1	NM_003471	
KCNAB1	7881	broad.mit.edu	37	3	156232195	156232195	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr3:156232195C>T	ENST00000490337.1	+	9	765	c.701C>T	c.(700-702)gCg>gTg	p.A234V	KCNAB1_ENST00000389636.5_Missense_Mutation_p.A205V|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000471742.1_Missense_Mutation_p.A223V|KCNAB1_ENST00000302490.8_Missense_Mutation_p.A216V|KCNAB1_ENST00000389634.5_Missense_Mutation_p.A187V	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	234					learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)	p.A216V(1)|p.A223V(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CAAGGCATGGCGATGTACTGG	0.393																																					p.A216V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C647T	3						.						183.0	176.0	178.0					3																	156232195		2203	4300	6503	157714889	SO:0001583	missense	7881	exon9			U33428	CCDS3174.1, CCDS3175.1, CCDS33882.1	3q26.1	2006-11-29			ENSG00000169282	ENSG00000169282		"""Potassium channels"", ""Aldo-keto reductases"""	6228	protein-coding gene	gene with protein product		601141				8838324, 7499366	Standard	NM_172160		Approved	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3	uc003far.2	Q14722	OTTHUMG00000158552	ENST00000490337.1:c.701C>T	3.37:g.156232195C>T	ENSP00000419952:p.Ala234Val		157714889	NM_172159	A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Missense_Mutation	SNP	ENST00000490337.1	37	CCDS3174.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.695806	0.88830	.	.	ENSG00000169282	ENST00000472028;ENST00000490337;ENST00000389636;ENST00000471742;ENST00000475456;ENST00000302490;ENST00000389634	T;T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.81;1.37;1.37	5.49	5.49	0.81192	NADP-dependent oxidoreductase domain (3);	0.105451	0.64402	D	0.000004	T	0.34019	0.0883	N	0.20304	0.555	0.80722	D	1	P;P;D;D;D	0.63046	0.856;0.901;0.989;0.989;0.992	P;B;P;B;P	0.48488	0.507;0.392;0.579;0.424;0.559	T	0.06899	-1.0801	10	0.40728	T	0.16	-12.7225	18.1683	0.89736	0.0:1.0:0.0:0.0	.	205;187;216;223;234	B7Z8E5;F8W6W4;B3KPZ4;Q14722-3;Q14722	.;.;.;.;KCAB1_HUMAN	V	123;234;205;223;177;216;187	ENSP00000420755:A123V;ENSP00000419952:A234V;ENSP00000374287:A205V;ENSP00000418956:A223V;ENSP00000420221:A177V;ENSP00000305858:A216V;ENSP00000374285:A187V	ENSP00000305858:A216V	A	+	2	0	KCNAB1	157714889	1.000000	0.71417	0.956000	0.39512	0.989000	0.77384	7.454000	0.80714	2.565000	0.86533	0.655000	0.94253	GCG		0.393	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351411.1	NM_003471	
SI	6476	broad.mit.edu	37	3	164760855	164760855	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr3:164760855C>T	ENST00000264382.3	-	17	2058	c.1996G>A	c.(1996-1998)Gga>Aga	p.G666R		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	666	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.G666R(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	ACTTCATATCCGTCAGAATTA	0.353										HNSCC(35;0.089)																											p.G666R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1996A	3						.						86.0	86.0	86.0					3																	164760855		2203	4300	6503	166243549	SO:0001583	missense	6476	exon17			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.1996G>A	3.37:g.164760855C>T	ENSP00000264382:p.Gly666Arg		166243549	NM_001041	A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.032232	0.54790	.	.	ENSG00000090402	ENST00000264382	D	0.94046	-3.34	5.87	2.83	0.33086	Glycoside hydrolase, superfamily (1);	0.630846	0.16751	N	0.201048	D	0.96457	0.8844	M	0.90922	3.16	0.22571	N	0.998972	D	0.62365	0.991	P	0.62491	0.903	D	0.90438	0.4429	10	0.51188	T	0.08	.	10.539	0.45022	0.0:0.7577:0.0:0.2423	.	666	P14410	SUIS_HUMAN	R	666	ENSP00000264382:G666R	ENSP00000264382:G666R	G	-	1	0	SI	166243549	0.000000	0.05858	0.010000	0.14722	0.004000	0.04260	0.112000	0.15479	0.812000	0.34326	0.655000	0.94253	GGA		0.353	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041	
BCHE	590	broad.mit.edu	37	3	165547413	165547413	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr3:165547413A>C	ENST00000264381.3	-	2	1575	c.1409T>G	c.(1408-1410)aTt>aGt	p.I470S	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	470					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)	p.I470S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	GACAAATTCAATTTCATAGCC	0.398																																					p.I470S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1409G	3						.						88.0	92.0	90.0					3																	165547413		2203	4300	6503	167030107	SO:0001583	missense	590	exon2			M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.1409T>G	3.37:g.165547413A>C	ENSP00000264381:p.Ile470Ser		167030107	NM_000055	A8K7P8	Missense_Mutation	SNP	ENST00000264381.3	37	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	A	18.21	3.573149	0.65765	.	.	ENSG00000114200	ENST00000264381	T	0.69435	-0.4	5.52	5.52	0.82312	Carboxylesterase, type B (1);	0.054285	0.64402	D	0.000001	D	0.85057	0.5610	M	0.91768	3.24	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.88551	0.3116	10	0.87932	D	0	.	14.8209	0.70070	1.0:0.0:0.0:0.0	.	470	P06276	CHLE_HUMAN	S	470	ENSP00000264381:I470S	ENSP00000264381:I470S	I	-	2	0	BCHE	167030107	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.832000	0.92079	2.105000	0.64084	0.482000	0.46254	ATT		0.398	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1		
LAMP3	27074	broad.mit.edu	37	3	182872115	182872115	+	Silent	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr3:182872115T>C	ENST00000265598.3	-	2	369	c.114A>G	c.(112-114)caA>caG	p.Q38Q	LAMP3_ENST00000466939.1_Silent_p.Q14Q	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	38					cell proliferation (GO:0008283)|immune system process (GO:0002376)	alveolar lamellar body membrane (GO:0097233)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)		p.Q38Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			CTGCAGTAGGTTGAGAATAAT	0.393																																					p.Q38Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A114G	3						.						166.0	154.0	158.0					3																	182872115		2203	4300	6503	184354809	SO:0001819	synonymous_variant	27074	exon2			AB013924	CCDS3242.1	3q26.3-q27	2011-11-24			ENSG00000078081	ENSG00000078081		"""CD molecules"""	14582	protein-coding gene	gene with protein product		605883				9721848	Standard	NM_014398		Approved	LAMP, TSC403, DC-LAMP, DCLAMP, CD208	uc003flh.4	Q9UQV4	OTTHUMG00000158387	ENST00000265598.3:c.114A>G	3.37:g.182872115T>C			184354809	NM_014398	D3DNS4|O94781|Q8NEC8	Silent	SNP	ENST00000265598.3	37	CCDS3242.1																																																																																				0.393	LAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350863.1		
YEATS2	55689	broad.mit.edu	37	3	183508744	183508744	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr3:183508744A>G	ENST00000305135.5	+	21	3268	c.3073A>G	c.(3073-3075)Atc>Gtc	p.I1025V		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	1025					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)	p.I1025V(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ACCAAACCCCATCTCTGGGAA	0.522																																					p.I1025V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3073G	3						.						101.0	110.0	107.0					3																	183508744		2026	4191	6217	184991438	SO:0001583	missense	55689	exon21			AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.3073A>G	3.37:g.183508744A>G	ENSP00000306983:p.Ile1025Val		184991438	NM_018023	A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	ENST00000305135.5	37	CCDS43175.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.324|7.324	0.617639|0.617639	0.14129|0.14129	.|.	.|.	ENSG00000163872|ENSG00000163872	ENST00000432781|ENST00000421660;ENST00000305135	.|D	.|0.86097	.|-2.07	5.44|5.44	0.27|0.27	0.15635|0.15635	.|.	.|0.772035	.|0.11899	.|N	.|0.518821	T|T	0.63271|0.63271	0.2497|0.2497	N|N	0.03608|0.03608	-0.345|-0.345	0.19775|0.19775	N|N	0.999959|0.999959	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.04013	.|0.001;0.0	T|T	0.48801|0.48801	-0.9003|-0.9003	5|10	.|0.11182	.|T	.|0.66	-8.3494|-8.3494	8.6137|8.6137	0.33817|0.33817	0.532:0.0:0.468:0.0|0.532:0.0:0.468:0.0	.|.	.|187;1025	.|Q8N5H6;Q9ULM3	.|.;YETS2_HUMAN	R|V	210|1025	.|ENSP00000306983:I1025V	.|ENSP00000306983:I1025V	H|I	+|+	2|1	0|0	YEATS2|YEATS2	184991438|184991438	0.127000|0.127000	0.22367|0.22367	0.890000|0.890000	0.34922|0.34922	0.863000|0.863000	0.49368|0.49368	0.404000|0.404000	0.20999|0.20999	0.061000|0.061000	0.16311|0.16311	-0.334000|-0.334000	0.08254|0.08254	CAT|ATC		0.522	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023	
EIF2B5	8893	broad.mit.edu	37	3	183857898	183857898	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr3:183857898T>C	ENST00000273783.3	+	6	918	c.796T>C	c.(796-798)Tac>Cac	p.Y266H	EIF2B5_ENST00000444495.1_Missense_Mutation_p.Y266H	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	266					astrocyte development (GO:0014002)|astrocyte differentiation (GO:0048708)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|positive regulation of translational initiation (GO:0045948)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|nucleus (GO:0005634)	guanyl-nucleotide exchange factor activity (GO:0005085)|translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)	p.Y266H(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CAACTTTGACTACCAAACTCG	0.408																																					p.Y266H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T796C	3						.						91.0	81.0	84.0					3																	183857898		2203	4300	6503	185340592	SO:0001583	missense	8893	exon6			U23028	CCDS3252.1	3q27.3	2006-07-18	2002-08-29		ENSG00000145191	ENSG00000145191			3261	protein-coding gene	gene with protein product		603945	"""eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)"""			8688466	Standard	NM_003907		Approved	EIF2Bepsilon, EIF-2B	uc003fmp.3	Q13144	OTTHUMG00000156840	ENST00000273783.3:c.796T>C	3.37:g.183857898T>C	ENSP00000273783:p.Tyr266His		185340592	NM_003907	Q541Z1|Q96D04	Missense_Mutation	SNP	ENST00000273783.3	37	CCDS3252.1	.	.	.	.	.	.	.	.	.	.	t	29.2	4.986071	0.93044	.	.	ENSG00000145191	ENST00000273783;ENST00000444495;ENST00000544027	D;D	0.98150	-4.75;-4.75	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.99039	0.9671	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99513	1.0956	10	0.72032	D	0.01	.	15.5609	0.76244	0.0:0.0:0.0:1.0	.	266	Q13144	EI2BE_HUMAN	H	266;266;22	ENSP00000273783:Y266H;ENSP00000409142:Y266H	ENSP00000273783:Y266H	Y	+	1	0	EIF2B5	185340592	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.721000	0.84768	2.271000	0.75665	0.533000	0.62120	TAC		0.408	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346168.1		
ABCF3	55324	broad.mit.edu	37	3	183908977	183908977	+	Silent	SNP	C	C	T	rs374618152		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr3:183908977C>T	ENST00000429586.2	+	16	1688	c.1503C>T	c.(1501-1503)taC>taT	p.Y501Y	ABCF3_ENST00000292808.5_Silent_p.Y495Y|EIF2B5_ENST00000444495.1_Intron	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	501	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)	membrane (GO:0016020)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.Y501Y(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATTTCTACTACGATCCGAAGC	0.557																																					p.Y501Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1503T	3						.	C		0,4406		0,0,2203	190.0	169.0	176.0		1503	-4.2	0.8	3		176	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ABCF3	NM_018358.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		501/710	183908977	1,13005	2203	4300	6503	185391671	SO:0001819	synonymous_variant	55324	exon16			U66685	CCDS3254.1	3q27.1	2012-05-16			ENSG00000161204	ENSG00000161204		"""ATP binding cassette transporters / subfamily F"""	72	protein-coding gene	gene with protein product						8894702	Standard	NM_018358		Approved	EST201864	uc003fmz.2	Q9NUQ8	OTTHUMG00000156824	ENST00000429586.2:c.1503C>T	3.37:g.183908977C>T			185391671	NM_018358	A8K241|Q86UA2|Q8NAN1|Q96GS8|Q9H7A8	Silent	SNP	ENST00000429586.2	37	CCDS3254.1																																																																																				0.557	ABCF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346047.1	NM_018358	
MAP3K13	9175	broad.mit.edu	37	3	185190867	185190867	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr3:185190867G>A	ENST00000265026.3	+	11	2082	c.1748G>A	c.(1747-1749)cGa>cAa	p.R583Q	MAP3K13_ENST00000446828.1_Missense_Mutation_p.R376Q|MAP3K13_ENST00000424227.1_Missense_Mutation_p.R583Q|MAP3K13_ENST00000443863.1_Missense_Mutation_p.R439Q|MAP3K13_ENST00000535426.1_Missense_Mutation_p.R439Q	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13									p.R583Q(1)		NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AGCAAGAGCCGATATCGAAGC	0.537																																					p.R583Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1748A	3						.						188.0	204.0	199.0					3																	185190867		2203	4300	6503	186673561	SO:0001583	missense	9175	exon11			BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.1748G>A	3.37:g.185190867G>A	ENSP00000265026:p.Arg583Gln		186673561	NM_004721		Missense_Mutation	SNP	ENST00000265026.3	37	CCDS3270.1	.	.	.	.	.	.	.	.	.	.	G	34	5.361479	0.95877	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026	T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;2.32	5.5	5.5	0.81552	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.33000	0.0848	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.995;0.992	T	0.01424	-1.1358	10	0.23891	T	0.37	.	19.3719	0.94492	0.0:0.0:1.0:0.0	.	439;376;583	O43283-4;O43283-5;O43283	.;.;M3K13_HUMAN	Q	376;583;439;439;583	ENSP00000411483:R376Q;ENSP00000399910:R583Q;ENSP00000409325:R439Q;ENSP00000439257:R439Q;ENSP00000265026:R583Q	ENSP00000265026:R583Q	R	+	2	0	MAP3K13	186673561	1.000000	0.71417	0.964000	0.40570	0.910000	0.53928	9.559000	0.98135	2.568000	0.86640	0.555000	0.69702	CGA		0.537	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721	
FGF12	2257	broad.mit.edu	37	3	191861900	191861900	+	Silent	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr3:191861900T>C	ENST00000454309.2	-	5	1455	c.630A>G	c.(628-630)gaA>gaG	p.E210E	FGF12_ENST00000450716.1_Silent_p.E148E|FGF12_ENST00000445105.2_Silent_p.E148E|FGF12_ENST00000264730.3_Silent_p.E148E|FGF12_ENST00000430714.1_Silent_p.E111E	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	210					adult locomotory behavior (GO:0008344)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell-cell signaling (GO:0007267)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|JNK cascade (GO:0007254)|negative regulation of cation channel activity (GO:2001258)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|regulation of membrane depolarization (GO:0003254)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)	p.E210E(1)		endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		GTAGCGATGGTTCTCTGTACA	0.338																																					p.E148E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A444G	3						.						268.0	236.0	247.0					3																	191861900		2203	4300	6503	193344594	SO:0001819	synonymous_variant	2257	exon6			U66197	CCDS3301.1, CCDS46983.1	3q28	2008-07-18			ENSG00000114279	ENSG00000114279			3668	protein-coding gene	gene with protein product	"""fibroblast growth factor 12B"", ""fibroblast growth factor homologous factor 1"", ""myocyte-activating factor"", ""fibroblast growth factor FGF-12b"""	601513		FGF12B		8790420, 9345906	Standard	NM_021032		Approved	FHF1	uc003fsx.3	P61328	OTTHUMG00000156132	ENST00000454309.2:c.630A>G	3.37:g.191861900T>C			193344594	NM_004113	B2R6B7|B2R976|O35339|P70376|Q8TBG5|Q92912|Q93001	Silent	SNP	ENST00000454309.2	37	CCDS3301.1																																																																																				0.338	FGF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343160.1	NM_021032	
CNTN4	152330	broad.mit.edu	37	3	2777907	2777907	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr3:2777907A>G	ENST00000397461.1	+	4	448	c.64A>G	c.(64-66)Aca>Gca	p.T22A	CNTN4_ENST00000418658.1_Missense_Mutation_p.T22A|CNTN4_ENST00000427331.1_Missense_Mutation_p.T22A	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	22					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.T22A(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AGATGATTCCACACTGCATGG	0.358																																					p.T22A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A64G	3						.						173.0	165.0	167.0					3																	2777907		1849	4086	5935	2752907	SO:0001583	missense	152330	exon4			AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.64A>G	3.37:g.2777907A>G	ENSP00000380602:p.Thr22Ala		2752907	NM_175607	B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	37	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	A	3.868	-0.028513	0.07589	.	.	ENSG00000144619	ENST00000422330;ENST00000455083;ENST00000418658;ENST00000397461;ENST00000434053;ENST00000427331	T;T;T;T;T	0.66815	-0.16;0.44;0.44;-0.23;0.44	6.07	0.971	0.19698	.	0.760282	0.12338	N	0.477738	T	0.46308	0.1386	N	0.21097	0.63	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.002	T	0.23904	-1.0175	10	0.08179	T	0.78	.	9.9405	0.41578	0.7477:0.0:0.2523:0.0	.	22;22	B3KTK4;Q8IWV2	.;CNTN4_HUMAN	A	22;22;22;22;40;22	ENSP00000408594:T22A;ENSP00000396010:T22A;ENSP00000380602:T22A;ENSP00000404085:T40A;ENSP00000413642:T22A	ENSP00000380602:T22A	T	+	1	0	CNTN4	2752907	0.003000	0.15002	0.002000	0.10522	0.807000	0.45602	1.807000	0.38902	-0.050000	0.13356	0.533000	0.62120	ACA		0.358	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2		
ITPR1	3708	broad.mit.edu	37	3	4733007	4733007	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr3:4733007C>T	ENST00000443694.2	+	29	3963	c.3963C>T	c.(3961-3963)tgC>tgT	p.C1321C	ITPR1_ENST00000456211.2_Silent_p.C1312C|ITPR1_ENST00000423119.2_Silent_p.C1327C|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000302640.8_Silent_p.C1321C|ITPR1_ENST00000354582.6_Silent_p.C1336C|ITPR1_ENST00000357086.4_Silent_p.C1327C			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1336					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|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)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.C1312C(1)		NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	TTAAAAAATGCCAAGACATGG	0.348																																					p.C1327C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3981T	3						.						60.0	62.0	61.0					3																	4733007		1840	4097	5937	4708007	SO:0001819	synonymous_variant	3708	exon32			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.3963C>T	3.37:g.4733007C>T			4708007	NM_001099952	E7EPX7|E9PDE9|Q14660|Q99897	Silent	SNP	ENST00000443694.2	37	CCDS54551.1																																																																																				0.348	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222	
TTLL3	26140	broad.mit.edu	37	3	9868782	9868782	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr3:9868782C>T	ENST00000547186.1	+	9	1192	c.976C>T	c.(976-978)Cgg>Tgg	p.R326W	ARPC4-TTLL3_ENST00000397256.1_Missense_Mutation_p.R387W|TTLL3_ENST00000430793.1_Missense_Mutation_p.R114W|TTLL3_ENST00000383827.1_Missense_Mutation_p.R114W|TTLL3_ENST00000426895.4_Missense_Mutation_p.R469W|TTLL3_ENST00000455274.1_Missense_Mutation_p.R114W|TTLL3_ENST00000427853.3_Missense_Mutation_p.R114W|TTLL3_ENST00000466245.1_3'UTR|TTLL3_ENST00000397241.1_Missense_Mutation_p.R114W	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	326	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)	p.R326W(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					GTATATTGAGCGGCCCCTCCT	0.542																																					p.R469W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1405T	3						.						208.0	184.0	192.0					3																	9868782		2203	4300	6503	9843782	SO:0001583	missense	26140	exon9				CCDS43048.1, CCDS43048.2	3p25.3	2013-02-14			ENSG00000214021	ENSG00000214021		"""Tubulin tyrosine ligase-like family"""	24483	protein-coding gene	gene with protein product						11054573	Standard	NR_037162		Approved	DKFZP434B103, HOTTL	uc003btg.4	Q9Y4R7	OTTHUMG00000128439	ENST00000547186.1:c.976C>T	3.37:g.9868782C>T	ENSP00000446659:p.Arg326Trp		9843782	NM_001025930	Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99	Missense_Mutation	SNP	ENST00000547186.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.47|19.47	3.833850|3.833850	0.71258|0.71258	.|.	.|.	ENSG00000214021|ENSG00000250151;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021	ENST00000310252|ENST00000397256;ENST00000426895;ENST00000547186;ENST00000397241;ENST00000427853;ENST00000443148;ENST00000383827;ENST00000455274;ENST00000430793	.|T;T;T;T;T;T;T;T;T	.|0.08282	.|3.11;3.11;3.11;3.11;3.11;3.11;3.11;3.11;3.11	5.09|5.09	4.19|4.19	0.49359|0.49359	.|.	.|0.092056	.|0.45361	.|U	.|0.000368	T|T	0.35158|0.35158	0.0922|0.0922	M|M	0.91717|0.91717	3.235|3.235	0.48341|0.48341	D|D	0.999631|0.999631	.|D;D;D;D;D	.|0.89917	.|0.999;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.85130	.|0.994;0.994;0.997;0.99;0.997	T|T	0.38757|0.38757	-0.9646|-0.9646	5|10	.|0.87932	.|D	.|0	.|.	12.1135|12.1135	0.53852|0.53852	0.4391:0.5609:0.0:0.0|0.4391:0.5609:0.0:0.0	.|.	.|265;114;114;114;326	.|B4DM47;Q9Y4R7-2;B2RCJ2;Q9Y4R7-5;Q9Y4R7	.|.;.;.;.;TTLL3_HUMAN	V|W	281|387;469;326;114;114;264;114;114;114	.|ENSP00000380427:R387W;ENSP00000392549:R469W;ENSP00000446659:R326W;ENSP00000380416:R114W;ENSP00000394462:R114W;ENSP00000398097:R264W;ENSP00000373338:R114W;ENSP00000409632:R114W;ENSP00000403874:R114W	.|ENSP00000380416:R114W	A|R	+|+	2|1	0|2	TTLL3|ARPC4-TTLL3;TTLL3	9843782|9843782	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	1.315000|1.315000	0.33608|0.33608	1.086000|1.086000	0.41228|0.41228	0.557000|0.557000	0.71058|0.71058	GCG|CGG		0.542	TTLL3-203	KNOWN	basic	protein_coding	protein_coding		NM_001025930.2	
EOMES	8320	broad.mit.edu	37	3	27761715	27761715	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr3:27761715C>T	ENST00000295743.4	-	2	1186	c.983G>A	c.(982-984)cGc>cAc	p.R328H	EOMES_ENST00000537516.1_Missense_Mutation_p.R33H|EOMES_ENST00000461503.1_5'UTR|EOMES_ENST00000449599.1_Missense_Mutation_p.R328H			O95936	EOMES_HUMAN	eomesodermin	328					brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R328H(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						CCCCTGGAAGCGCCAGTGGTT	0.572																																					p.R328H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G983A	3						.						114.0	121.0	119.0					3																	27761715		2203	4300	6503	27736719	SO:0001583	missense	8320	exon2			BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"""T-boxes"""	3372	protein-coding gene	gene with protein product	"""T-box brain2"""	604615	"""eomesodermin (Xenopus laevis) homolog"""			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.983G>A	3.37:g.27761715C>T	ENSP00000295743:p.Arg328His		27736719	NM_005442	B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	Missense_Mutation	SNP	ENST00000295743.4	37	CCDS2646.1	.	.	.	.	.	.	.	.	.	.	C	34	5.322344	0.95708	.	.	ENSG00000163508	ENST00000295743;ENST00000449599;ENST00000537516;ENST00000535713	D;D;D	0.90133	-2.62;-2.62;-2.62	4.74	4.74	0.60224	p53-like transcription factor, DNA-binding (1);	0.054229	0.64402	D	0.000002	D	0.96485	0.8853	M	0.92122	3.275	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.993;0.995	D	0.97496	1.0057	10	0.87932	D	0	.	17.9174	0.88955	0.0:1.0:0.0:0.0	.	42;328;328;328	B7Z4I2;F5H3K1;G3XAI5;O95936	.;.;.;EOMES_HUMAN	H	328;328;33;193	ENSP00000295743:R328H;ENSP00000388620:R328H;ENSP00000442097:R33H	ENSP00000295743:R328H	R	-	2	0	EOMES	27736719	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.590000	0.82653	2.449000	0.82847	0.563000	0.77884	CGC		0.572	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252995.1	NM_005442	
CNOT10	25904	broad.mit.edu	37	3	32769188	32769188	+	Silent	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr3:32769188T>C	ENST00000328834.5	+	10	1357	c.1041T>C	c.(1039-1041)tgT>tgC	p.C347C	CNOT10_ENST00000538368.1_Silent_p.C119C|CNOT10_ENST00000331889.6_Silent_p.C347C|CNOT10-AS1_ENST00000475395.2_RNA|CNOT10_ENST00000463697.1_3'UTR|CNOT10_ENST00000454516.2_Silent_p.C407C	NM_015442.2	NP_056257.1	Q9H9A5	CNO10_HUMAN	CCR4-NOT transcription complex, subunit 10	347					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)		p.C347C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						GACCCATGTGTACGTTACTAA	0.343																																					p.C347C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1041C	3						.						88.0	76.0	80.0					3																	32769188		2203	4300	6503	32744192	SO:0001819	synonymous_variant	25904	exon10			BC002928	CCDS2655.1, CCDS58821.1, CCDS58822.1	3p23	2013-01-10			ENSG00000182973	ENSG00000182973		"""Tetratricopeptide (TTC) repeat domain containing"""	23817	protein-coding gene	gene with protein product							Standard	NR_046352		Approved	FLJ12890, FLJ13165	uc011axj.2	Q9H9A5	OTTHUMG00000130748	ENST00000328834.5:c.1041T>C	3.37:g.32769188T>C			32744192	NM_015442	B7Z7L1|F8WAF2|Q9BU30|Q9H5J7|Q9H8X1|Q9H9W0|Q9HAH3|Q9UFJ2	Silent	SNP	ENST00000328834.5	37	CCDS2655.1																																																																																				0.343	CNOT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253248.2	NM_015442	
TMPPE	643853	broad.mit.edu	37	3	33135657	33135657	+	Missense_Mutation	SNP	C	C	T	rs199657885		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr3:33135657C>T	ENST00000342462.4	-	2	221	c.31G>A	c.(31-33)Gcg>Acg	p.A11T	GLB1_ENST00000307377.8_Intron|GLB1_ENST00000445488.2_Intron|GLB1_ENST00000307363.5_Intron|TMPPE_ENST00000416695.2_Intron|GLB1_ENST00000399402.3_Intron	NM_001039770.2	NP_001034859.2	Q6ZT21	TMPPE_HUMAN	transmembrane protein with metallophosphoesterase domain	11						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.A11T(1)		breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						GTGGCCTTCGCGCCTAGGGAC	0.582																																					p.A11T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G31A	3						.						59.0	58.0	58.0					3																	33135657		2201	4299	6500	33110661	SO:0001583	missense	643853	exon2			AK126979	CCDS33732.1, CCDS46786.1	3p22.3	2014-02-12	2009-02-24		ENSG00000188167	ENSG00000188167			33865	protein-coding gene	gene with protein product							Standard	NM_001039770		Approved	FLJ45032	uc003cfk.2	Q6ZT21	OTTHUMG00000155779	ENST00000342462.4:c.31G>A	3.37:g.33135657C>T	ENSP00000343398:p.Ala11Thr		33110661	NM_001039770	B2RNG5|Q6ZRG1	Missense_Mutation	SNP	ENST00000342462.4	37	CCDS33732.1	.	.	.	.	.	.	.	.	.	.	C	4.598	0.111049	0.08831	.	.	ENSG00000188167	ENST00000342462	.	.	.	5.66	0.092	0.14470	.	2.434530	0.03134	U	0.165526	T	0.28034	0.0691	L	0.27053	0.805	0.09310	N	1	B	0.16166	0.016	B	0.06405	0.002	T	0.08106	-1.0738	9	0.18710	T	0.47	0.815	4.5852	0.12279	0.3007:0.4588:0.0:0.2405	.	11	Q6ZT21	TMPPE_HUMAN	T	11	.	ENSP00000343398:A11T	A	-	1	0	TMPPE	33110661	0.000000	0.05858	0.000000	0.03702	0.278000	0.26855	0.108000	0.15396	-0.285000	0.09089	-0.310000	0.09108	GCG		0.582	TMPPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341566.1	NM_001039770	
FBXL2	25827	broad.mit.edu	37	3	33416890	33416890	+	Silent	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr3:33416890T>C	ENST00000484457.1	+	10	859	c.768T>C	c.(766-768)ggT>ggC	p.G256G	FBXL2_ENST00000538181.1_Silent_p.G172G|FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000507198.1_Silent_p.G188G|FBXL2_ENST00000446237.3_5'UTR|FBXL2_ENST00000542085.1_5'UTR|FBXL2_ENST00000538892.1_Silent_p.G188G	NM_012157.3	NP_036289.3			F-box and leucine-rich repeat protein 2									p.G256G(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						CAGCCCTGGGTTTGAACTGTC	0.542																																					p.G188G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T564C	3						.						115.0	109.0	111.0					3																	33416890		2203	4300	6503	33391894	SO:0001819	synonymous_variant	25827	exon9			AF174589	CCDS2658.1, CCDS54560.1	3p22.3	2011-06-09			ENSG00000153558	ENSG00000153558		"""F-boxes / Leucine-rich repeats"""	13598	protein-coding gene	gene with protein product		605652				10508920, 10531035	Standard	NM_012157		Approved	FBL2, FBL3	uc003cfp.3	Q9UKC9	OTTHUMG00000130745	ENST00000484457.1:c.768T>C	3.37:g.33416890T>C			33391894	NM_001171713		Silent	SNP	ENST00000484457.1	37	CCDS2658.1																																																																																				0.542	FBXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253245.2	NM_012157	
LRRFIP2	9209	broad.mit.edu	37	3	37116574	37116574	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr3:37116574G>A	ENST00000336686.4	-	20	1392	c.1312C>T	c.(1312-1314)Ctg>Ttg	p.L438L	LRRFIP2_ENST00000354379.4_Silent_p.L182L|LRRFIP2_ENST00000421276.2_Silent_p.L206L|LRRFIP2_ENST00000421307.1_Silent_p.L438L|LRRFIP2_ENST00000396428.2_Silent_p.L254L|LRRFIP2_ENST00000440230.1_Silent_p.L206L			Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	438					Wnt signaling pathway (GO:0016055)		LRR domain binding (GO:0030275)	p.L438L(1)|p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						TTATGCTGCAGCACACTACAC	0.348																																					p.L182L												.	.	2	Whole gene deletion(1)|Substitution - coding silent(1)	ovary(1)|large_intestine(1)	c.C544T	3						.						187.0	171.0	177.0					3																	37116574		2203	4300	6503	37091578	SO:0001819	synonymous_variant	9209	exon8			AF115509	CCDS2664.1, CCDS2665.1, CCDS46791.1, CCDS63592.1	3p22.1	2008-07-18			ENSG00000093167	ENSG00000093167			6703	protein-coding gene	gene with protein product		614043				10366446	Standard	NM_017724		Approved	HUFI-2	uc003cgp.2	Q9Y608	OTTHUMG00000130796	ENST00000336686.4:c.1312C>T	3.37:g.37116574G>A			37091578	NM_017724	A8K649|A8MXR0|B4DY63|Q68CV3|Q9NXH5	Silent	SNP	ENST00000336686.4	37	CCDS2664.1	.	.	.	.	.	.	.	.	.	.	G	3.934	-0.015594	0.07681	.	.	ENSG00000093167	ENST00000440742	.	.	.	5.78	3.99	0.46301	.	.	.	.	.	T	0.63082	0.2481	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59773	-0.7391	4	.	.	.	-26.6252	12.2288	0.54476	0.1391:0.0:0.8609:0.0	.	.	.	.	V	50	.	.	A	-	2	0	LRRFIP2	37091578	1.000000	0.71417	0.947000	0.38551	0.374000	0.29953	4.281000	0.58965	0.791000	0.33826	-0.150000	0.13652	GCT		0.348	LRRFIP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253335.3	NM_006309	
CTDSPL	10217	broad.mit.edu	37	3	38009362	38009362	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr3:38009362A>G	ENST00000273179.5	+	5	441	c.415A>G	c.(415-417)Act>Gct	p.T139A	CTDSPL_ENST00000310189.3_3'UTR|CTDSPL_ENST00000443503.2_Missense_Mutation_p.T128A|MIR26A1_ENST00000362205.1_RNA	NM_001008392.1	NP_001008393.1	O15194	CTDSL_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like	139	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)	p.T139A(1)		breast(1)|endometrium(2)|large_intestine(4)|skin(1)	8		Melanoma(1037;0.0122)		KIRC - Kidney renal clear cell carcinoma(284;0.0729)|Kidney(284;0.0902)		AATCGATGGAACTATACATCA	0.289											OREG0015472	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.T128A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A382G	3						.						58.0	57.0	57.0					3																	38009362		2198	4298	6496	37984366	SO:0001583	missense	10217	exon4			D88153	CCDS33734.1, CCDS33735.1	3p21.3	2010-06-21	2003-10-27	2003-10-29	ENSG00000144677	ENSG00000144677	3.1.3.16	"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	16890	protein-coding gene	gene with protein product	"""small CTD phosphatase 3"", ""HYA22 protein"", ""RB protein serine phosphatase from chromosome 3"""	608592	"""chromosome 3 open reading frame 8"""	C3orf8		9179494, 12543795	Standard	NM_005808		Approved	HYA22, SCP3, PSR1, RBSP3	uc003chg.3	O15194	OTTHUMG00000155942	ENST00000273179.5:c.415A>G	3.37:g.38009362A>G	ENSP00000273179:p.Thr139Ala	874	37984366	NM_005808	Q3ZTU0|Q70KI4|Q7Z5Q2	Missense_Mutation	SNP	ENST00000273179.5	37	CCDS33734.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.21|14.21	2.468214|2.468214	0.43839|0.43839	.|.	.|.	ENSG00000144677|ENSG00000144677	ENST00000416688|ENST00000443503;ENST00000273179;ENST00000447745	.|T;T;T	.|0.16597	.|2.33;2.33;2.33	5.25|5.25	4.09|4.09	0.47781|0.47781	.|NLI interacting factor (3);Dullard phosphatase domain, eukaryotic (1);HAD-like domain (2);	.|0.143577	.|0.64402	.|D	.|0.000008	T|T	0.18299|0.18299	0.0439|0.0439	L|L	0.56340|0.56340	1.77|1.77	0.80722|0.80722	D|D	1|1	.|B;B	.|0.28667	.|0.013;0.219	.|B;B	.|0.31016	.|0.038;0.123	T|T	0.02450|0.02450	-1.1157|-1.1157	5|10	.|0.42905	.|T	.|0.14	-23.4041|-23.4041	11.0623|11.0623	0.47955|0.47955	0.9266:0.0:0.0733:0.0|0.9266:0.0:0.0733:0.0	.|.	.|128;139	.|O15194-2;O15194	.|.;CTDSL_HUMAN	S|A	47|128;139;28	.|ENSP00000398288:T128A;ENSP00000273179:T139A;ENSP00000407443:T28A	.|ENSP00000273179:T139A	N|T	+|+	2|1	0|0	CTDSPL|CTDSPL	37984366|37984366	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.415000|7.415000	0.80131|0.80131	0.948000|0.948000	0.37687|0.37687	0.533000|0.533000	0.62120|0.62120	AAC|ACT		0.289	CTDSPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342392.1	NM_005808	
SCN5A	6331	broad.mit.edu	37	3	38595858	38595858	+	Silent	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr3:38595858A>G	ENST00000333535.4	-	27	4874	c.4725T>C	c.(4723-4725)tgT>tgC	p.C1575C	SCN5A_ENST00000414099.2_Silent_p.C1557C|SCN5A_ENST00000443581.1_Silent_p.C1574C|SCN5A_ENST00000425664.1_Silent_p.C1557C|SCN5A_ENST00000413689.1_Silent_p.C1575C|SCN5A_ENST00000450102.2_Silent_p.C1521C|SCN5A_ENST00000449557.2_Silent_p.C1521C|SCN5A_ENST00000451551.2_Silent_p.C1521C|SCN5A_ENST00000423572.2_Silent_p.C1574C|SCN5A_ENST00000455624.2_Intron|SCN5A_ENST00000464652.1_5'UTR			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1575					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.C1575C(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GCTTGACAATACACTCGCCTG	0.498																																					p.C1557C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T4671C	3						.						142.0	154.0	150.0					3																	38595858		2117	4261	6378	38570862	SO:0001819	synonymous_variant	6331	exon26			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.4725T>C	3.37:g.38595858A>G			38570862	NM_001099405	A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	ENST00000333535.4	37	CCDS46796.1																																																																																				0.498	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056	
CSRNP1	64651	broad.mit.edu	37	3	39188121	39188121	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr3:39188121G>A	ENST00000273153.5	-	2	230	c.53C>T	c.(52-54)tCg>tTg	p.S18L	CSRNP1_ENST00000514182.1_Missense_Mutation_p.S18L	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	18	Ser-rich.				apoptotic process (GO:0006915)|face morphogenesis (GO:0060325)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)	nucleus (GO:0005634)	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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S18L(1)		central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						GGAGGAGACCGAGGAGTTGTC	0.607																																					p.S18L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C53T	3						.						75.0	38.0	50.0					3																	39188121		2202	4297	6499	39163125	SO:0001583	missense	64651	exon2			AB053121	CCDS2682.1	3p22	2009-04-17	2009-04-17	2009-04-17	ENSG00000144655	ENSG00000144655			14300	protein-coding gene	gene with protein product		606458	"""AXIN1 up-regulated 1"""	AXUD1		11526492, 17726538	Standard	NM_033027		Approved	URAX1, DKFZp566F164, FAM130B, TAIP-3	uc003cjg.3	Q96S65	OTTHUMG00000131293	ENST00000273153.5:c.53C>T	3.37:g.39188121G>A	ENSP00000273153:p.Ser18Leu		39163125	NM_033027	Q69YY5	Missense_Mutation	SNP	ENST00000273153.5	37	CCDS2682.1	.	.	.	.	.	.	.	.	.	.	G	11.12	1.544547	0.27563	.	.	ENSG00000144655	ENST00000273153;ENST00000514182	T;T	0.44881	0.91;0.91	3.66	-1.03	0.10102	.	0.712181	0.13602	N	0.375807	T	0.28896	0.0717	L	0.50333	1.59	0.09310	N	1	B	0.17465	0.022	B	0.09377	0.004	T	0.34403	-0.9830	10	0.11485	T	0.65	-0.0526	6.757	0.23520	0.2813:0.1666:0.5521:0.0	.	18	Q96S65	CSRN1_HUMAN	L	18	ENSP00000273153:S18L;ENSP00000422532:S18L	ENSP00000273153:S18L	S	-	2	0	CSRNP1	39163125	0.914000	0.31030	0.000000	0.03702	0.070000	0.16714	1.291000	0.33330	-0.796000	0.04456	-1.579000	0.00862	TCG		0.607	CSRNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254061.1	NM_033027	
ULK4	54986	broad.mit.edu	37	3	41952851	41952851	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr3:41952851C>A	ENST00000301831.4	-	11	1505	c.1043G>T	c.(1042-1044)aGt>aTt	p.S348I	ULK4_ENST00000420927.1_Missense_Mutation_p.S348I	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	348			S -> G (in dbSNP:rs35263917). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:17344846}.		cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.G348V(1)|p.S348I(1)		breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CTCAAGAGTACTCTTAGGCCG	0.348																																					p.S348I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1043T	3						.						95.0	88.0	90.0					3																	41952851		1834	4085	5919	41927855	SO:0001583	missense	54986	exon11			AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"""unc-51-like kinase 4 (C. elegans)"""			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.1043G>T	3.37:g.41952851C>A	ENSP00000301831:p.Ser348Ile		41927855	NM_017886	A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	ENST00000301831.4	37	CCDS43071.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.096247	0.56075	.	.	ENSG00000168038	ENST00000301831;ENST00000420927	T;T	0.69306	0.4;-0.39	5.22	2.27	0.28462	.	0.707959	0.15193	N	0.275422	T	0.73410	0.3583	L	0.58669	1.825	0.80722	D	1	D	0.60160	0.987	P	0.60682	0.878	T	0.70185	-0.4941	10	0.72032	D	0.01	.	8.9191	0.35601	0.0:0.7344:0.0:0.2656	.	348	Q96C45	ULK4_HUMAN	I	348	ENSP00000301831:S348I;ENSP00000412187:S348I	ENSP00000301831:S348I	S	-	2	0	ULK4	41927855	1.000000	0.71417	0.309000	0.25155	0.753000	0.42808	1.011000	0.29911	0.151000	0.19162	-0.156000	0.13503	AGT		0.348	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989	
ZNF662	389114	broad.mit.edu	37	3	42950381	42950385	+	Frame_Shift_Del	DEL	CCCCA	CCCCA	-	rs370901605		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	CCCCA	CCCCA	CCCCA	-	CCCCA	-	Unknown	Valid	Germline	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr3:42950381_42950385delCCCCA	ENST00000541208.1	+	3	500_504	c.131_135delCCCCA	c.(130-135)gccccafs	p.AP44fs	ZNF662_ENST00000422021.1_Frame_Shift_Del_p.AP44fs|ZNF662_ENST00000430067.2_3'UTR|ZNF662_ENST00000328199.6_Frame_Shift_Del_p.AP104fs|ZNF662_ENST00000440367.2_Frame_Shift_Del_p.AP44fs|KRBOX1_ENST00000426937.1_5'UTR			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	44	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(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		GATGGAGAGGCCCCAAGGGGCATCT	0.517																																					p.104_105del												.	.	0			c.311_315del	3						.																																			42925389	SO:0001589	frameshift_variant	389114	exon3			AK127779	CCDS2708.1, CCDS46807.1	3p22.1	2013-01-08			ENSG00000182983	ENSG00000182983		"""Zinc fingers, C2H2-type"", ""-"""	31930	protein-coding gene	gene with protein product							Standard	NM_207404		Approved	FLJ45880	uc003cmk.2	Q6ZS27	OTTHUMG00000133041	ENST00000541208.1:c.131_135delCCCCA	3.37:g.42950381_42950385delCCCCA	ENSP00000446208:p.Ala44fs		42925385	NM_001134656	A1A4T9|F8W7S8|Q6ZNF8|Q6ZQW8	Frame_Shift_Del	DEL	ENST00000541208.1	37	CCDS2708.1																																																																																				0.517	ZNF662-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256646.4	NM_207404	
SLC6A20	54716	broad.mit.edu	37	3	45812857	45812857	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr3:45812857C>T	ENST00000358525.4	-	6	902	c.787G>A	c.(787-789)Gcc>Acc	p.A263T	SLC6A20_ENST00000456124.2_Missense_Mutation_p.A263T|SLC6A20_ENST00000353278.4_Missense_Mutation_p.A226T	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	263					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|glycine transport (GO:0015816)|ion transport (GO:0006811)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		TTGTAGCTGGCGAAGGCGATC	0.552																																					p.A226T												.	.	0			c.G676A	3						.						169.0	136.0	147.0					3																	45812857		2203	4300	6503	45787861	SO:0001583	missense	54716	exon5			AF075260	CCDS2730.1, CCDS43077.1	3p21.6	2013-05-22			ENSG00000163817	ENSG00000163817		"""Solute carriers"""	30927	protein-coding gene	gene with protein product		605616				9932288, 11352561	Standard	NM_022405		Approved	XT3, Xtrp3	uc011bai.2	Q9NP91	OTTHUMG00000133446	ENST00000358525.4:c.787G>A	3.37:g.45812857C>T	ENSP00000346298:p.Ala263Thr		45787861	NM_022405	A1A4F2|O75590|Q8TF10|Q9NPQ2|Q9NQ77	Missense_Mutation	SNP	ENST00000358525.4	37	CCDS43077.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.471024	0.84533	.	.	ENSG00000163817	ENST00000353278;ENST00000358525;ENST00000456124;ENST00000413781	T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28	5.2	4.33	0.51752	.	0.056328	0.64402	N	0.000001	D	0.90563	0.7042	M	0.89353	3.025	0.43160	D	0.99494	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.92035	0.5636	10	0.66056	D	0.02	.	13.6774	0.62462	0.0:0.925:0.0:0.075	.	226;263	Q9NP91-2;Q9NP91	.;S6A20_HUMAN	T	226;263;263;216	ENSP00000296133:A226T;ENSP00000346298:A263T;ENSP00000404310:A263T;ENSP00000395506:A216T	ENSP00000296133:A226T	A	-	1	0	SLC6A20	45787861	1.000000	0.71417	0.993000	0.49108	0.952000	0.60782	4.670000	0.61583	1.194000	0.43101	0.467000	0.42956	GCC		0.552	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257318.3	NM_020208	
FYCO1	79443	broad.mit.edu	37	3	45965170	45965170	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr3:45965170T>C	ENST00000296137.2	-	17	4544	c.4339A>G	c.(4339-4341)Atc>Gtc	p.I1447V	FYCO1_ENST00000438446.1_Missense_Mutation_p.I118V|FYCO1_ENST00000535325.1_Missense_Mutation_p.I1467V	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1447	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)	p.I1447V(1)		NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TTGTCGAAGATGAGCATGTAG	0.562																																					p.I1447V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4339G	3						.						216.0	184.0	195.0					3																	45965170		2203	4300	6503	45940174	SO:0001583	missense	79443	exon17			AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"""Zinc fingers, FYVE domain containing"""	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.4339A>G	3.37:g.45965170T>C	ENSP00000296137:p.Ile1447Val		45940174	NM_024513	B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	ENST00000296137.2	37	CCDS2734.1	.	.	.	.	.	.	.	.	.	.	T	16.83	3.231085	0.58777	.	.	ENSG00000163820	ENST00000296137;ENST00000438446;ENST00000535325	T;T;T	0.38560	1.13;1.13;1.13	5.26	4.11	0.48088	GOLD (2);	0.123594	0.52532	N	0.000070	T	0.38321	0.1036	N	0.04994	-0.135	0.40781	D	0.983172	D;P	0.64830	0.994;0.816	D;B	0.72625	0.978;0.194	T	0.30504	-0.9976	10	0.30854	T	0.27	-13.9059	9.6224	0.39730	0.0:0.0793:0.0:0.9207	.	1467;1447	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	V	1447;118;1467	ENSP00000296137:I1447V;ENSP00000398517:I118V;ENSP00000441178:I1467V	ENSP00000296137:I1447V	I	-	1	0	FYCO1	45940174	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	2.756000	0.47549	0.859000	0.35456	0.459000	0.35465	ATC		0.562	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513	
PTH1R	5745	broad.mit.edu	37	3	46942554	46942554	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr3:46942554G>T	ENST00000313049.5	+	9	1231	c.1028G>T	c.(1027-1029)aGa>aTa	p.R343I	PTH1R_ENST00000430002.2_Missense_Mutation_p.R343I|PTH1R_ENST00000449590.1_Missense_Mutation_p.R343I|PTH1R_ENST00000418619.1_Missense_Mutation_p.R343I			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	343					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|bone mineralization (GO:0030282)|bone resorption (GO:0045453)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cell proliferation (GO:0008285)|osteoblast development (GO:0002076)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|skeletal system development (GO:0001501)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	parathyroid hormone receptor activity (GO:0004991)|peptide hormone binding (GO:0017046)|protein self-association (GO:0043621)	p.R343I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19					Preotact(DB05829)|Teriparatide(DB06285)	GTCAGTGTCAGAGCTACCCTG	0.622																																					p.R343I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1028T	3						.						59.0	41.0	47.0					3																	46942554		2201	4297	6498	46917558	SO:0001583	missense	5745	exon10				CCDS2747.1	3p22-p21.1	2012-08-10	2008-11-18	2008-11-18	ENSG00000160801	ENSG00000160801		"""GPCR / Class B : Parathyroid hormone receptors"""	9608	protein-coding gene	gene with protein product		168468	"""parathyroid hormone receptor 1"""	PTHR, PTHR1		8020952	Standard	NM_001184744		Approved		uc021wxg.1	Q03431	OTTHUMG00000133515	ENST00000313049.5:c.1028G>T	3.37:g.46942554G>T	ENSP00000321999:p.Arg343Ile		46917558	NM_001184744	Q2M1U3	Missense_Mutation	SNP	ENST00000313049.5	37	CCDS2747.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.767279	0.90020	.	.	ENSG00000160801	ENST00000449590;ENST00000418619;ENST00000427125;ENST00000430002;ENST00000313049;ENST00000313063	T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77	4.58	4.58	0.56647	GPCR, family 2-like (1);	.	.	.	.	T	0.76062	0.3935	H	0.95539	3.685	0.80722	D	1	D	0.56746	0.977	P	0.62649	0.905	D	0.84493	0.0612	9	0.87932	D	0	.	16.1324	0.81449	0.0:0.0:1.0:0.0	.	343	Q03431	PTH1R_HUMAN	I	343;343;343;343;343;617	ENSP00000402723:R343I;ENSP00000411424:R343I;ENSP00000400977:R343I;ENSP00000413774:R343I;ENSP00000321999:R343I	ENSP00000321999:R343I	R	+	2	0	PTH1R	46917558	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	9.183000	0.94887	2.371000	0.80710	0.561000	0.74099	AGA		0.622	PTH1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257481.1	NM_000316	
CDHR4	389118	broad.mit.edu	37	3	49836263	49836263	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr3:49836263G>A	ENST00000412678.2	-	4	499	c.491C>T	c.(490-492)gCg>gTg	p.A164V	CDHR4_ENST00000487256.1_Missense_Mutation_p.A164V|CDHR4_ENST00000343366.4_Silent_p.S189S	NM_001007540.2	NP_001007541.2	A6H8M9	CDHR4_HUMAN	cadherin-related family member 4	164					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A164V(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(3)	11						GCTTACCTGCGCTCCGTGGAG	0.607																																					p.A164V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C491T	3						.						34.0	38.0	36.0					3																	49836263		1990	4160	6150	49811267	SO:0001583	missense	389118	exon4				CCDS46829.1	3p21.31	2011-07-01	2010-01-25	2010-01-25	ENSG00000187492	ENSG00000187492		"""Cadherins / Cadherin-related"""	34527	protein-coding gene	gene with protein product			"""cadherin-like 29"""	CDH29			Standard	NM_001007540		Approved	VLLR9392	uc010hkz.3	A6H8M9	OTTHUMG00000158198	ENST00000412678.2:c.491C>T	3.37:g.49836263G>A	ENSP00000391409:p.Ala164Val		49811267	NM_001007540	Q6UXT0	Missense_Mutation	SNP	ENST00000412678.2	37	CCDS46829.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.823118	0.32237	.	.	ENSG00000187492	ENST00000412678;ENST00000487256	T;T	0.58210	0.35;0.52	3.87	2.99	0.34606	.	.	.	.	.	T	0.33818	0.0876	L	0.32530	0.975	0.09310	N	1	P;P	0.35011	0.454;0.48	B;B	0.28139	0.086;0.06	T	0.09552	-1.0669	9	0.17369	T	0.5	-12.9338	7.2785	0.26297	0.12:0.0:0.88:0.0	.	164;164	E9PFE8;A6H8M9	.;CDHR4_HUMAN	V	164	ENSP00000391409:A164V;ENSP00000420677:A164V	ENSP00000391409:A164V	A	-	2	0	CDHR4	49811267	1.000000	0.71417	0.171000	0.22900	0.014000	0.08584	2.024000	0.41049	1.208000	0.43306	0.591000	0.81541	GCG		0.607	CDHR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350387.1	NM_001007540	
RBM6	10180	broad.mit.edu	37	3	50099539	50099539	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr3:50099539A>G	ENST00000266022.4	+	15	2843	c.2584A>G	c.(2584-2586)Agg>Ggg	p.R862G	RBM6_ENST00000443081.1_Missense_Mutation_p.R730G|RBM6_ENST00000442092.1_Missense_Mutation_p.R340G|RBM6_ENST00000422955.1_Missense_Mutation_p.R340G|RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000539992.1_Missense_Mutation_p.R204G	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	862					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R862G(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		AGGAGTGACGAGGGTAAGAGG	0.378																																					p.R862G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2584G	3						.						95.0	97.0	97.0					3																	50099539		2203	4300	6503	50074543	SO:0001583	missense	10180	exon15			AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.2584A>G	3.37:g.50099539A>G	ENSP00000266022:p.Arg862Gly		50074543	NM_005777	O60549|O75524|Q86SS3	Missense_Mutation	SNP	ENST00000266022.4	37	CCDS2809.1	.	.	.	.	.	.	.	.	.	.	A	10.11	1.259681	0.23051	.	.	ENSG00000004534	ENST00000442092;ENST00000266022;ENST00000443081;ENST00000539992;ENST00000422955;ENST00000438912	T;T;T;T;T	0.44482	0.92;1.49;1.49;0.93;0.92	5.03	3.85	0.44370	.	0.586428	0.15517	N	0.258223	T	0.21468	0.0517	N	0.08118	0	0.09310	N	1	B;B	0.14438	0.001;0.01	B;B	0.12156	0.007;0.002	T	0.19257	-1.0311	9	.	.	.	-0.2837	9.3721	0.38261	0.8196:0.1804:0.0:0.0	.	730;862	E9PGM9;P78332	.;RBM6_HUMAN	G	340;862;730;204;340;110	ENSP00000393530:R340G;ENSP00000266022:R862G;ENSP00000396466:R730G;ENSP00000443165:R204G;ENSP00000392939:R340G	.	R	+	1	2	RBM6	50074543	0.072000	0.21174	0.049000	0.19019	0.162000	0.22319	0.734000	0.26101	0.995000	0.38917	-0.323000	0.08544	AGG		0.378	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	NM_005777	
RBM5	10181	broad.mit.edu	37	3	50131248	50131248	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr3:50131248C>T	ENST00000347869.3	+	4	454	c.279C>T	c.(277-279)gaC>gaT	p.D93D	RBM5_ENST00000469838.1_Silent_p.D93D	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	93					apoptotic process (GO:0006915)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.D93D(1)		breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACATCAGTGACGAGAGGGAGA	0.512																																					p.D93D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C279T	3						.						298.0	222.0	248.0					3																	50131248		2203	4300	6503	50106252	SO:0001819	synonymous_variant	10181	exon4			U23946	CCDS2810.1	3p21.3	2013-08-15			ENSG00000003756	ENSG00000003756		"""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9902	protein-coding gene	gene with protein product		606884				10352938, 23935508	Standard	NM_005778		Approved	LUCA15, H37	uc003cyg.3	P52756	OTTHUMG00000156785	ENST00000347869.3:c.279C>T	3.37:g.50131248C>T			50106252	NM_005778	B2RA45|B4DM16|B4DMF9|B4DZ63|Q93021|Q9BU14|Q9HDA6|Q9UKY8|Q9UL24	Silent	SNP	ENST00000347869.3	37	CCDS2810.1																																																																																				0.512	RBM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345797.3	NM_005778	
ACY1	95	broad.mit.edu	37	3	52021349	52021349	+	Silent	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr3:52021349A>G	ENST00000404366.2	+	11	878	c.732A>G	c.(730-732)aaA>aaG	p.K244K	ACY1_ENST00000476351.1_Silent_p.K209K|ABHD14A-ACY1_ENST00000463937.1_Silent_p.K345K|ACY1_ENST00000476854.1_Intron|ACY1_ENST00000494103.1_Silent_p.K172K|ACY1_ENST00000458031.2_Silent_p.K334K	NM_000666.2|NM_001198895.1	NP_000657.1|NP_001185824.1	Q03154	ACY1_HUMAN	aminoacylase 1	244					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aminoacylase activity (GO:0004046)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)	p.K244K(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acetylcysteine(DB06151)|L-Aspartic Acid(DB00128)	CCCACCTGAAAGAGGGGTCCG	0.582																																					p.K172K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A516G	3						.						52.0	51.0	51.0					3																	52021349		2203	4300	6503	51996389	SO:0001819	synonymous_variant	95	exon9			L07548	CCDS2844.1, CCDS56261.1, CCDS56262.1, CCDS56263.1	3p21.2	2006-02-02			ENSG00000243989	ENSG00000243989	3.5.1.14		177	protein-coding gene	gene with protein product		104620				1707030, 6948533	Standard	NM_000666		Approved		uc003dcq.3	Q03154	OTTHUMG00000157815	ENST00000404366.2:c.732A>G	3.37:g.52021349A>G			51996389	NM_001198896	C9J6I6|C9J9D8|C9JWD4	Silent	SNP	ENST00000404366.2	37	CCDS2844.1																																																																																				0.582	ACY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349657.1	NM_000666	
DNAH1	25981	broad.mit.edu	37	3	52392658	52392658	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr3:52392658T>C	ENST00000420323.2	+	25	4432	c.4171T>C	c.(4171-4173)Tcc>Ccc	p.S1391P		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1391	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.S1391P(1)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CATCTACCCCTCCAGCAACGT	0.602																																					p.S1391P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4171C	3						.						53.0	63.0	59.0					3																	52392658		2164	4252	6416	52367698	SO:0001583	missense	25981	exon25			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.4171T>C	3.37:g.52392658T>C	ENSP00000401514:p.Ser1391Pro		52367698	NM_015512	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	T	12.15	1.850286	0.32699	.	.	ENSG00000114841	ENST00000420323	T	0.61980	0.06	5.1	-1.09	0.09904	.	1.999330	0.02853	N	0.129350	T	0.64283	0.2584	L	0.46670	1.46	0.18873	N	0.999983	B	0.22604	0.072	B	0.36808	0.233	T	0.60120	-0.7325	10	0.54805	T	0.06	.	12.3321	0.55046	0.7757:0.0:0.0:0.2243	.	1391	C9JXH6	.	P	1391	ENSP00000401514:S1391P	ENSP00000401514:S1391P	S	+	1	0	DNAH1	52367698	0.000000	0.05858	0.190000	0.23270	0.729000	0.41735	0.024000	0.13555	-0.048000	0.13401	-0.327000	0.08410	TCC		0.602	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512	
PBRM1	55193	broad.mit.edu	37	3	52712580	52712580	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr3:52712580G>A	ENST00000296302.7	-	2	173	c.172C>T	c.(172-174)Cga>Tga	p.R58*	PBRM1_ENST00000394830.3_Nonsense_Mutation_p.R58*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.R58*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.R58*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.R58*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.R58*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.R58*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.R58*			Q86U86	PB1_HUMAN	polybromo 1	58					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R58*(7)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TTATAGTCTCGGATGGTATTA	0.433			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																p.R58X			Rec	yes		3	3p21	55193	polybromo 1		E	.	.	7	Substitution - Nonsense(7)	kidney(6)|large_intestine(1)	c.C172T	3						.						130.0	118.0	122.0					3																	52712580		2203	4300	6503	52687620	SO:0001587	stop_gained	55193	exon3			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.172C>T	3.37:g.52712580G>A	ENSP00000296302:p.Arg58*		52687620	NM_018313	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	G	36	5.705422	0.96812	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103;ENST00000431678;ENST00000420148;ENST00000449505;ENST00000450271	.	.	.	5.2	3.17	0.36434	.	0.056365	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	2.9834	8.9802	0.35961	0.0:0.1109:0.6405:0.2486	.	.	.	.	X	58;58;58;58;58;58;58;58;58;2;58;58;58;58	.	ENSP00000296302:R58X	R	-	1	2	PBRM1	52687620	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	3.452000	0.52971	1.160000	0.42584	0.460000	0.39030	CGA		0.433	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165	
ITIH4	3700	broad.mit.edu	37	3	52853483	52853483	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr3:52853483C>A	ENST00000266041.4	-	17	2099	c.2003G>T	c.(2002-2004)aGg>aTg	p.R668M	ITIH4_ENST00000434759.3_3'UTR|RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000467462.1_5'Flank|ITIH4_ENST00000406595.1_Missense_Mutation_p.R638M|ITIH4_ENST00000346281.5_Missense_Mutation_p.R638M|ITIH4_ENST00000485816.1_Missense_Mutation_p.R673M	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	668	Proline-rich (PRR) potential bioactive peptide.				acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.R668M(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		TCCAAGTTGCCTGGAGCTGAG	0.592																																					p.R668M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2003T	3						.						108.0	115.0	113.0					3																	52853483		2203	4300	6503	52828523	SO:0001583	missense	3700	exon17			D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"""plasma Kallikrein-sensitive glycoprotein"""	600564	"""inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"""	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.2003G>T	3.37:g.52853483C>A	ENSP00000266041:p.Arg668Met		52828523	NM_002218	B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Missense_Mutation	SNP	ENST00000266041.4	37	CCDS2865.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.308|5.308	0.242178|0.242178	0.10077|0.10077	.|.	.|.	ENSG00000055955|ENSG00000055955	ENST00000441637|ENST00000266041;ENST00000346281;ENST00000485816;ENST00000406595;ENST00000538421	.|T;T;T;T	.|0.01505	.|4.89;4.82;4.86;4.9	1.54|1.54	-0.442|-0.442	0.12253|0.12253	.|.	.|8.212750	.|0.00166	.|N	.|0.000004	T|T	0.01800|0.01800	0.0057|0.0057	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B;B;P;B	.|0.35208	.|0.139;0.305;0.49;0.0	.|B;B;B;B	.|0.35899	.|0.077;0.161;0.213;0.009	T|T	0.39272|0.39272	-0.9622|-0.9622	5|10	.|0.41790	.|T	.|0.15	.|.	4.0983|4.0983	0.10002|0.10002	0.0:0.5721:0.0:0.4279|0.0:0.5721:0.0:0.4279	.|.	.|638;673;668;638	.|E9PGN5;B7ZKJ8;Q14624;Q14624-2	.|.;.;ITIH4_HUMAN;.	H|M	495|668;638;673;638;626	.|ENSP00000266041:R668M;ENSP00000340520:R638M;ENSP00000417824:R673M;ENSP00000384425:R638M	.|ENSP00000266041:R668M	Q|R	-|-	3|2	2|0	ITIH4|ITIH4	52828523|52828523	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.421000|-0.421000	0.07053|0.07053	-0.158000|-0.158000	0.11040|0.11040	-0.379000|-0.379000	0.06801|0.06801	CAG|AGG		0.592	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317715.1	NM_002218	
IL17RB	55540	broad.mit.edu	37	3	53883712	53883712	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr3:53883712A>G	ENST00000288167.3	+	3	125	c.116A>G	c.(115-117)gAt>gGt	p.D39G		NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	39					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|regulation of cell growth (GO:0001558)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)	p.D39G(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		CTACAACATGATCTAATCCCC	0.488																																					p.D39G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A116G	3						.						140.0	137.0	138.0					3																	53883712		2203	4300	6503	53858752	SO:0001583	missense	55540	exon3			AF212365	CCDS2874.1	3p21.1	2008-02-05		2003-07-09	ENSG00000056736	ENSG00000056736		"""Interleukins and interleukin receptors"""	18015	protein-coding gene	gene with protein product		605458	"""interleukin 17B receptor"""	IL17BR		10749887, 10815801	Standard	NM_018725		Approved	IL17RH1, EVI27, CRL4	uc003dha.3	Q9NRM6	OTTHUMG00000158280	ENST00000288167.3:c.116A>G	3.37:g.53883712A>G	ENSP00000288167:p.Asp39Gly		53858752	NM_018725	Q9BPZ0|Q9NRL4|Q9NRM5	Missense_Mutation	SNP	ENST00000288167.3	37	CCDS2874.1	.	.	.	.	.	.	.	.	.	.	A	3.639	-0.073948	0.07184	.	.	ENSG00000056736	ENST00000288167;ENST00000494338	T;T	0.21031	2.03;2.03	5.21	-0.623	0.11556	.	1.351300	0.04578	N	0.394413	T	0.09555	0.0235	N	0.08118	0	0.09310	N	1	B	0.17667	0.023	B	0.12156	0.007	T	0.28618	-1.0038	10	0.25751	T	0.34	0.4889	2.5915	0.04844	0.4197:0.288:0.201:0.0913	.	39	Q9NRM6	I17RB_HUMAN	G	39	ENSP00000288167:D39G;ENSP00000418638:D39G	ENSP00000288167:D39G	D	+	2	0	IL17RB	53858752	0.000000	0.05858	0.006000	0.13384	0.001000	0.01503	-0.109000	0.10840	0.174000	0.19809	-1.281000	0.01382	GAT		0.488	IL17RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350563.1	NM_172234	
LRTM1	57408	broad.mit.edu	37	3	54958906	54958906	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr3:54958906C>A	ENST00000273286.5	-	2	506	c.344G>T	c.(343-345)aGc>aTc	p.S115I	CACNA2D3_ENST00000288197.5_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.S39I|CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000490478.1_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	115						integral component of membrane (GO:0016021)		p.S115I(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		GAAAAGTCTGCTTTCCAGGGA	0.478																																					p.S115I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G344T	3						.						68.0	68.0	68.0					3																	54958906		2203	4300	6503	54933946	SO:0001583	missense	57408	exon2			AF225421	CCDS2876.1	3p14.3	2006-01-02			ENSG00000144771	ENSG00000144771			25023	protein-coding gene	gene with protein product						12477932	Standard	NM_020678		Approved	HT017	uc003dhl.3	Q9HBL6	OTTHUMG00000158578	ENST00000273286.5:c.344G>T	3.37:g.54958906C>A	ENSP00000273286:p.Ser115Ile		54933946	NM_020678	Q8IUU2	Missense_Mutation	SNP	ENST00000273286.5	37	CCDS2876.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.473177	0.63737	.	.	ENSG00000144771	ENST00000273286;ENST00000493075	T;T	0.59083	0.29;0.29	5.74	1.32	0.21799	.	0.396067	0.32273	N	0.006340	T	0.61590	0.2359	M	0.62088	1.915	0.31316	N	0.686564	D	0.54397	0.966	P	0.55161	0.77	T	0.63479	-0.6628	10	0.37606	T	0.19	.	8.902	0.35501	0.0:0.4769:0.0:0.5231	.	115	Q9HBL6	LRTM1_HUMAN	I	115;39	ENSP00000273286:S115I;ENSP00000419772:S39I	ENSP00000273286:S115I	S	-	2	0	LRTM1	54933946	1.000000	0.71417	0.949000	0.38748	0.996000	0.88848	1.276000	0.33156	0.265000	0.21872	0.655000	0.94253	AGC		0.478	LRTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351399.1	NM_020678	
ERC2	26059	broad.mit.edu	37	3	55768913	55768913	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr3:55768913delT	ENST00000288221.6	-	15	2853	c.2598delA	c.(2596-2598)aaafs	p.K866fs		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	866						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)		p.D867fs*31(1)		breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TGTTTGCATCTTTTTCACTGA	0.373																																					p.K864fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2592delA	3						.						73.0	65.0	67.0					3																	55768913		1839	4101	5940	55743953	SO:0001589	frameshift_variant	26059	exon14			AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.2598delA	3.37:g.55768913delT	ENSP00000288221:p.Lys866fs		55743953	NM_015576	Q2T9F6|Q86TK4	Frame_Shift_Del	DEL	ENST00000288221.6	37	CCDS46851.1																																																																																				0.373	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576	
APPL1	26060	broad.mit.edu	37	3	57269673	57269673	+	Missense_Mutation	SNP	A	A	G	rs529656946		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr3:57269673A>G	ENST00000288266.3	+	2	281	c.134A>G	c.(133-135)cAt>cGt	p.H45R		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	45	Required for RAB5A binding.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|insulin receptor signaling pathway (GO:0008286)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of glucose import (GO:0046324)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|protein kinase B binding (GO:0043422)	p.H45R(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		CAAGCTATGCATCGGATTTAT	0.358													A|||	1	0.000199681	0.0008	0.0	5008	,	,		19136	0.0		0.0	False		,,,				2504	0.0				p.H45R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A134G	3						.						112.0	108.0	109.0					3																	57269673		2203	4300	6503	57244713	SO:0001583	missense	26060	exon2			AB037849	CCDS2882.1	3p21.1-p14.3	2013-01-11			ENSG00000157500	ENSG00000157500		"""Pleckstrin homology (PH) domain containing"""	24035	protein-coding gene	gene with protein product		604299				10490823, 17030088	Standard	NM_012096		Approved	APPL	uc003dio.3	Q9UKG1	OTTHUMG00000133756	ENST00000288266.3:c.134A>G	3.37:g.57269673A>G	ENSP00000288266:p.His45Arg		57244713	NM_012096	Q9P2B9	Missense_Mutation	SNP	ENST00000288266.3	37	CCDS2882.1	.	.	.	.	.	.	.	.	.	.	A	10.47	1.358812	0.24598	.	.	ENSG00000157500	ENST00000288266;ENST00000495803;ENST00000444459	T;T;T	0.03860	3.78;3.78;3.78	5.77	-1.25	0.09405	.	0.299041	0.42821	N	0.000650	T	0.01730	0.0055	N	0.02011	-0.69	0.38333	D	0.943858	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.51834	-0.8655	10	0.15066	T	0.55	.	11.817	0.52216	0.5974:0.0:0.4026:0.0	.	28;28;45	B4DQX8;C9JAB0;Q9UKG1	.;.;DP13A_HUMAN	R	45;45;28	ENSP00000288266:H45R;ENSP00000419644:H45R;ENSP00000406095:H28R	ENSP00000288266:H45R	H	+	2	0	APPL1	57244713	0.998000	0.40836	0.998000	0.56505	0.995000	0.86356	0.910000	0.28571	-0.091000	0.12440	0.533000	0.62120	CAT		0.358	APPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258196.2	NM_012096	
DNAH12	201625	broad.mit.edu	37	3	57528532	57528532	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr3:57528532delG	ENST00000351747.2	-	2	246	c.66delC	c.(64-66)cccfs	p.P22fs	DNAH12_ENST00000311202.6_Frame_Shift_Del_p.P22fs|DNAH12_ENST00000389536.4_Frame_Shift_Del_p.P22fs	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	22	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.I23fs*8(2)		breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						GATGGACAATGGGGGGTAACT	0.413																																					p.P22fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.66delC	3						.						129.0	123.0	125.0					3																	57528532		2203	4300	6503	57503572	SO:0001589	frameshift_variant	201625	exon2			U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"""Axonemal dyneins"""	2943	protein-coding gene	gene with protein product		603340	"""dynein, axonemal, heavy polypeptide 12"", ""dynein heavy chain domain 2"", ""dynein heavy domain 2"", ""dynein, axonemal, heavy chain 12-like"", ""dynein, axonemal, heavy chain 7-like"""	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.66delC	3.37:g.57528532delG	ENSP00000295937:p.Pro22fs		57503572	NM_178504	A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Frame_Shift_Del	DEL	ENST00000351747.2	37																																																																																					0.413	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178504	
PDZRN3	23024	broad.mit.edu	37	3	73432614	73432614	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr3:73432614C>T	ENST00000263666.4	-	10	3217	c.3103G>A	c.(3103-3105)Gat>Aat	p.D1035N	PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000462146.2_Missense_Mutation_p.D692N|PDZRN3_ENST00000535920.1_Missense_Mutation_p.D757N|PDZRN3_ENST00000479530.1_Missense_Mutation_p.D752N|PDZRN3_ENST00000466780.1_Missense_Mutation_p.D692N	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	1035					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D1035N(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		ATCCAGTTATCGAAGATTTTC	0.438																																					p.D1035N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3103A	3						.						248.0	255.0	252.0					3																	73432614		2203	4300	6503	73515304	SO:0001583	missense	23024	exon10			AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.3103G>A	3.37:g.73432614C>T	ENSP00000263666:p.Asp1035Asn		73515304	NM_015009	A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.320054	0.60634	.	.	ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530	T;T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95;-0.95	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.87581	0.6213	M	0.80982	2.52	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;1.0;0.993	D	0.88546	0.3113	10	0.87932	D	0	.	19.3333	0.94303	0.0:1.0:0.0:0.0	.	757;752;752;1035	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.;.;.;PZRN3_HUMAN	N	1035;757;692;692;752	ENSP00000263666:D1035N;ENSP00000442026:D757N;ENSP00000418168:D692N;ENSP00000418484:D692N;ENSP00000418624:D752N	ENSP00000263666:D1035N	D	-	1	0	PDZRN3	73515304	1.000000	0.71417	0.954000	0.39281	0.155000	0.21991	7.591000	0.82666	2.659000	0.90383	0.655000	0.94253	GAT		0.438	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363	
ROBO2	6092	broad.mit.edu	37	3	77147461	77147461	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr3:77147461G>C	ENST00000461745.1	+	2	1258	c.358G>C	c.(358-360)Gtg>Ctg	p.V120L	ROBO2_ENST00000332191.8_Missense_Mutation_p.V120L|ROBO2_ENST00000487694.3_Missense_Mutation_p.V136L	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	120	Ig-like C2-type 1.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)	p.V120L(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TGGTGAAGCAGTGAGTCGAAA	0.438																																					p.S100T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G299C	3						.						94.0	97.0	96.0					3																	77147461		2050	4201	6251	77230151	SO:0001583	missense	6092	exon1			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.358G>C	3.37:g.77147461G>C	ENSP00000417164:p.Val120Leu		77230151	NM_001128929	O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	G	10.77	1.442774	0.25987	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191	T;T;T	0.68624	-0.34;-0.34;-0.34	5.59	4.53	0.55603	Immunoglobulin I-set (1);Immunoglobulin-like (1);	0.000000	0.34853	U	0.003621	T	0.54013	0.1832	L	0.35341	1.055	0.26412	N	0.976243	B;B;B	0.09022	0.002;0.0;0.001	B;B;B	0.10450	0.003;0.002;0.005	T	0.60151	-0.7319	9	0.36615	T	0.2	.	11.8264	0.52269	0.1503:0.0:0.8497:0.0	.	136;120;120	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	L	136;136;136;120;120	ENSP00000417335:V136L;ENSP00000417164:V120L;ENSP00000327536:V120L	ENSP00000327536:V120L	V	+	1	0	ROBO2	77230151	1.000000	0.71417	1.000000	0.80357	0.014000	0.08584	6.775000	0.75018	2.628000	0.89032	0.655000	0.94253	GTG		0.438	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246	
EPHA3	2042	broad.mit.edu	37	3	89259614	89259614	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr3:89259614C>A	ENST00000336596.2	+	3	983	c.758C>A	c.(757-759)cCc>cAc	p.P253H	EPHA3_ENST00000452448.2_Missense_Mutation_p.P253H|EPHA3_ENST00000494014.1_Missense_Mutation_p.P253H	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	253	Cys-rich.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.P253H(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TGGCTTGTACCCATTGGCAAG	0.453										TSP Lung(6;0.00050)																											p.P253H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C758A	3						.						190.0	185.0	187.0					3																	89259614		2203	4300	6503	89342304	SO:0001583	missense	2042	exon3			M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.758C>A	3.37:g.89259614C>A	ENSP00000337451:p.Pro253His		89342304	NM_005233	Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.455443	0.84209	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	D;D;D	0.97404	-4.37;-4.37;-4.37	5.93	5.93	0.95920	Tyrosine-protein kinase, receptor class V, conserved site (1);	0.056001	0.64402	D	0.000001	D	0.98998	0.9658	M	0.94142	3.5	0.80722	D	1	D;D	0.89917	0.991;1.0	P;D	0.77004	0.596;0.989	D	0.99198	1.0872	9	.	.	.	.	20.3465	0.98790	0.0:1.0:0.0:0.0	.	253;253	P29320;P29320-2	EPHA3_HUMAN;.	H	253	ENSP00000337451:P253H;ENSP00000399926:P253H;ENSP00000419190:P253H	.	P	+	2	0	EPHA3	89342304	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.798000	0.96311	0.655000	0.94253	CCC		0.453	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233	
EPHA6	285220	broad.mit.edu	37	3	96706733	96706733	+	Missense_Mutation	SNP	G	G	A	rs572811264		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr3:96706733G>A	ENST00000389672.5	+	3	1048	c.1010G>A	c.(1009-1011)cGt>cAt	p.R337H	EPHA6_ENST00000542517.1_Missense_Mutation_p.R243H|EPHA6_ENST00000470610.2_Missense_Mutation_p.R337H	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	243	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)	p.R243H(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GCTGAAGAGCGTGACACTCCT	0.468																																					p.R337H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1010A	3						.						145.0	142.0	143.0					3																	96706733		1973	4167	6140	98189423	SO:0001583	missense	285220	exon3			AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.1010G>A	3.37:g.96706733G>A	ENSP00000374323:p.Arg337His		98189423	NM_001080448	D6RAL5	Missense_Mutation	SNP	ENST00000389672.5	37	CCDS46876.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.027076	0.54683	.	.	ENSG00000080224	ENST00000470610;ENST00000389672;ENST00000542517	T;T;T	0.75154	4.99;-0.91;4.44	5.17	5.17	0.71159	.	0.788970	0.10687	U	0.645607	D	0.85331	0.5672	L	0.58810	1.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.81990	-0.0679	10	0.46703	T	0.11	.	18.0257	0.89268	0.0:0.0:1.0:0.0	.	337;337	B3KS12;E7EU71	.;.	H	337;337;243	ENSP00000420598:R337H;ENSP00000374323:R337H;ENSP00000439758:R243H	ENSP00000374323:R337H	R	+	2	0	EPHA6	98189423	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	6.717000	0.74707	2.549000	0.85964	0.650000	0.86243	CGT		0.468	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448	
EPHA6	285220	broad.mit.edu	37	3	97467474	97467474	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr3:97467474C>T	ENST00000389672.5	+	18	3360	c.3322C>T	c.(3322-3324)Cga>Tga	p.R1108*		NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	1014						integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)	p.R1014*(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						ACACCAGAGACGAATAGTCAG	0.428																																					p.R1108X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3322T	3						.						108.0	100.0	102.0					3																	97467474		1964	4159	6123	98950164	SO:0001587	stop_gained	285220	exon18			AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.3322C>T	3.37:g.97467474C>T	ENSP00000374323:p.Arg1108*		98950164	NM_001080448	D6RAL5	Nonsense_Mutation	SNP	ENST00000389672.5	37	CCDS46876.1	.	.	.	.	.	.	.	.	.	.	C	40	8.437440	0.98810	.	.	ENSG00000080224	ENST00000389672	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	14.1434	0.65334	0.15:0.85:0.0:0.0	.	.	.	.	X	1108	.	ENSP00000374323:R1108X	R	+	1	2	EPHA6	98950164	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.683000	0.37638	2.551000	0.86045	0.650000	0.86243	CGA		0.428	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448	
ATP13A4	84239	broad.mit.edu	37	3	193171906	193171906	+	Missense_Mutation	SNP	C	C	T	rs372189734		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr3:193171906C>T	ENST00000342695.4	-	17	2333	c.2011G>A	c.(2011-2013)Gct>Act	p.A671T	ATP13A4_ENST00000392443.3_Missense_Mutation_p.A652T	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	671						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.A671T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		AAGGTAGTAGCGTGATGGTCA	0.438																																					p.A671T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2011A	3						.	C	THR/ALA	0,4406		0,0,2203	148.0	124.0	132.0		2011	-1.4	0.0	3		132	1,8599	1.2+/-3.3	0,1,4299	no	missense	ATP13A4	NM_032279.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	671/1197	193171906	1,13005	2203	4300	6503	194654600	SO:0001583	missense	84239	exon17			AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.2011G>A	3.37:g.193171906C>T	ENSP00000339182:p.Ala671Thr		194654600	NM_032279	B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	ENST00000342695.4	37	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	C	4.100	0.016590	0.07959	0.0	1.16E-4	ENSG00000127249	ENST00000392443;ENST00000342695	T;T	0.67865	-0.29;-0.29	6.17	-1.38	0.09027	ATPase, cation-transporting, domain N (1);ATPase, P-type, cytoplasmic domain N (1);	1.237410	0.05518	N	0.561530	T	0.44393	0.1291	N	0.17800	0.525	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.19679	-1.0298	10	0.30078	T	0.28	-0.0895	0.6808	0.00875	0.25:0.176:0.1288:0.4452	.	652;671;671	B7WPN9;Q4VNC1-2;Q4VNC1	.;.;AT134_HUMAN	T	652;671	ENSP00000376238:A652T;ENSP00000339182:A671T	ENSP00000339182:A671T	A	-	1	0	ATP13A4	194654600	0.000000	0.05858	0.004000	0.12327	0.001000	0.01503	-0.533000	0.06157	0.153000	0.19213	-0.294000	0.09567	GCT		0.438	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279	
PCDH7	5099	broad.mit.edu	37	4	30725232	30725233	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	-	-	-	T	-	-	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr4:30725232_30725233insT	ENST00000361762.2	+	1	3196_3197	c.2188_2189insT	c.(2188-2190)cttfs	p.L730fs	PCDH7_ENST00000543491.1_Frame_Shift_Ins_p.L730fs	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	730	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V685fs*4(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						TACAGTCTCGCTTTTTGTGATG	0.465																																					p.L730fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.2188_2189insT	4						.																																			30334331	SO:0001589	frameshift_variant	5099	exon1			AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.2193dupT	4.37:g.30725237_30725237dupT	ENSP00000355243:p.Leu730fs		30334330	NM_001173523	O60246|O60247|Q4W5C4	Frame_Shift_Ins	INS	ENST00000361762.2	37	CCDS33971.1																																																																																				0.465	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589	
MTTP	4547	broad.mit.edu	37	4	100532503	100532503	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr4:100532503G>A	ENST00000265517.5	+	14	2085	c.1882G>A	c.(1882-1884)Gca>Aca	p.A628T	MTTP_ENST00000511045.1_Missense_Mutation_p.A655T|MTTP_ENST00000457717.1_Missense_Mutation_p.A628T|RP11-766F14.1_ENST00000508578.1_RNA			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	628	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.A628T(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)	TCCCCGTTCGGCATCTACTTA	0.448																																					p.A628T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1882A	4						.						229.0	214.0	219.0					4																	100532503		2203	4300	6503	100751526	SO:0001583	missense	4547	exon15				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.1882G>A	4.37:g.100532503G>A	ENSP00000265517:p.Ala628Thr		100751526	NM_000253	A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	ENST00000265517.5	37	CCDS3651.1	.	.	.	.	.	.	.	.	.	.	G	1.897	-0.454078	0.04540	.	.	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517	T;T;T	0.62105	0.05;0.07;0.07	5.62	4.76	0.60689	Lipid transport protein, N-terminal (1);	0.108387	0.64402	D	0.000003	T	0.53997	0.1831	L	0.45137	1.4	0.35076	D	0.762912	B;B	0.21821	0.0;0.061	B;B	0.17433	0.001;0.018	T	0.61222	-0.7106	10	0.46703	T	0.11	-12.336	12.8041	0.57603	0.0:0.0:0.5503:0.4497	.	655;628	E9PBP6;P55157	.;MTP_HUMAN	T	655;628;628	ENSP00000427679:A655T;ENSP00000400821:A628T;ENSP00000265517:A628T	ENSP00000265517:A628T	A	+	1	0	MTTP	100751526	0.356000	0.24930	0.351000	0.25721	0.010000	0.07245	0.790000	0.26900	1.332000	0.45431	0.655000	0.94253	GCA		0.448	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3		
NFKB1	4790	broad.mit.edu	37	4	103533681	103533681	+	Missense_Mutation	SNP	C	C	T	rs373165003		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr4:103533681C>T	ENST00000505458.1	+	22	2784	c.2507C>T	c.(2506-2508)gCg>gTg	p.A836V	NFKB1_ENST00000226574.4_Missense_Mutation_p.A837V|NFKB1_ENST00000394820.4_Missense_Mutation_p.A836V|NFKB1_ENST00000600343.1_Missense_Mutation_p.A656V			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	836	Death.|Interaction with CFLAR.				apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cytokine production (GO:0001818)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-12 biosynthetic process (GO:0045083)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|response to copper ion (GO:0046688)|response to oxidative stress (GO:0006979)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleic acid binding transcription factor activity (GO:0001071)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.A837V(1)		biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)	GCTACTCTGGCGCAGAAATTA	0.443																																					p.A836V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2507T	4						.	C	VAL/ALA,VAL/ALA	0,4406		0,0,2203	81.0	82.0	82.0		2507,2510	4.3	1.0	4		82	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	NFKB1	NM_001165412.1,NM_003998.3	64,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	836/969,837/970	103533681	1,13005	2203	4300	6503	103752727	SO:0001583	missense	4790	exon22			M58603	CCDS3657.1, CCDS54783.1	4q24	2013-01-10	2008-07-28		ENSG00000109320	ENSG00000109320		"""Ankyrin repeat domain containing"""	7794	protein-coding gene	gene with protein product		164011				1992489	Standard	NM_003998		Approved	KBF1, p105, NFKB-p50, p50, NF-kappaB, NFkappaB, NF-kB1	uc011cep.2	P19838	OTTHUMG00000161080	ENST00000505458.1:c.2507C>T	4.37:g.103533681C>T	ENSP00000424790:p.Ala836Val		103752727	NM_001165412	A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Missense_Mutation	SNP	ENST00000505458.1	37	CCDS54783.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.006370	0.74932	0.0	1.16E-4	ENSG00000109320	ENST00000226574;ENST00000394820;ENST00000505458	T;T;T	0.56941	0.43;0.43;0.43	5.12	4.28	0.50868	Death (2);DEATH-like (2);	0.166737	0.37437	N	0.002097	T	0.71213	0.3313	M	0.75615	2.305	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.75113	-0.3432	10	0.87932	D	0	-10.3887	13.5577	0.61770	0.0:0.9249:0.0:0.0751	.	656;836;837	B3KVE8;P19838;P19838-2	.;NFKB1_HUMAN;.	V	837;836;836	ENSP00000226574:A837V;ENSP00000378297:A836V;ENSP00000424790:A836V	ENSP00000226574:A837V	A	+	2	0	NFKB1	103752727	1.000000	0.71417	1.000000	0.80357	0.588000	0.36517	4.637000	0.61346	1.170000	0.42753	-0.259000	0.10710	GCG		0.443	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363411.1		
LEF1	51176	broad.mit.edu	37	4	109000748	109000748	+	Missense_Mutation	SNP	C	C	T	rs146861754		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr4:109000748C>T	ENST00000265165.1	-	7	1399	c.745G>A	c.(745-747)Ggt>Agt	p.G249S	LEF1_ENST00000510624.1_Missense_Mutation_p.G153S|LEF1_ENST00000503879.1_5'Flank|LEF1_ENST00000379951.2_Missense_Mutation_p.G221S|LEF1_ENST00000438313.2_Missense_Mutation_p.G221S	NM_016269.4	NP_057353.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	249	Pro-rich.				alpha-beta T cell differentiation (GO:0046632)|anatomical structure regression (GO:0060033)|apoptotic process involved in morphogenesis (GO:0060561)|apoptotic process involved in patterning of blood vessels (GO:1902262)|B cell proliferation (GO:0042100)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|cellular response to cytokine stimulus (GO:0071345)|cellular response to interleukin-4 (GO:0071353)|chorio-allantoic fusion (GO:0060710)|dentate gyrus development (GO:0021542)|embryonic limb morphogenesis (GO:0030326)|epithelial to mesenchymal transition (GO:0001837)|eye pigmentation (GO:0048069)|face morphogenesis (GO:0060325)|forebrain neuroblast division (GO:0021873)|forebrain neuron differentiation (GO:0021879)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|mammary gland development (GO:0030879)|muscle fiber development (GO:0048747)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process in bone marrow (GO:0071866)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA binding (GO:0043392)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neutrophil differentiation (GO:0030223)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesoderm formation (GO:0048341)|patterning of blood vessels (GO:0001569)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell cycle process (GO:0090068)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell-cell adhesion (GO:0022407)|regulation of striated muscle tissue development (GO:0016202)|sensory perception of taste (GO:0050909)|somitogenesis (GO:0001756)|sprouting angiogenesis (GO:0002040)|steroid hormone mediated signaling pathway (GO:0043401)|T cell receptor V(D)J recombination (GO:0033153)|T-helper 1 cell differentiation (GO:0045063)|tongue development (GO:0043586)|trachea gland development (GO:0061153)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|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)|C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer binding (GO:0035326)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|gamma-catenin binding (GO:0045295)|histone binding (GO:0042393)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.G249S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		CCAGGAGGACCGGGAATCATA	0.468																																					p.G153S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G457A	4						.	C	SER/GLY,SER/GLY,SER/GLY,SER/GLY	1,4405	2.1+/-5.4	0,1,2202	208.0	179.0	189.0		661,661,457,745	5.8	1.0	4	dbSNP_134	189	0,8600		0,0,4300	no	missense,missense,missense,missense	LEF1	NM_001130713.2,NM_001130714.2,NM_001166119.1,NM_016269.4	56,56,56,56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	221/372,221/387,153/304,249/400	109000748	1,13005	2203	4300	6503	109220197	SO:0001583	missense	51176	exon6				CCDS3679.1, CCDS47122.1, CCDS47123.1, CCDS54791.1	4q23-q25	2011-07-08			ENSG00000138795	ENSG00000138795			6551	protein-coding gene	gene with protein product		153245				1783375	Standard	NM_016269		Approved	TCF1ALPHA, TCF10, TCF7L3	uc003hyt.2	Q9UJU2	OTTHUMG00000131809	ENST00000265165.1:c.745G>A	4.37:g.109000748C>T	ENSP00000265165:p.Gly249Ser		109220197	NM_001166119	B4DG38|B7Z8E2|E9PDK3|Q3ZCU4|Q9HAZ0	Missense_Mutation	SNP	ENST00000265165.1	37	CCDS3679.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.275864	0.80580	2.27E-4	0.0	ENSG00000138795	ENST00000265165;ENST00000379951;ENST00000438313;ENST00000510624	D;D;D;D	0.99194	-5.38;-5.46;-5.48;-5.54	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.97726	0.9254	N	0.05306	-0.075	0.80722	D	1	D;D;D;P;B	0.89917	1.0;1.0;1.0;0.758;0.238	D;D;D;B;B	0.91635	0.987;0.991;0.999;0.249;0.079	D	0.94608	0.7802	10	0.06099	T	0.92	0.2914	20.1731	0.98165	0.0:1.0:0.0:0.0	.	153;106;221;221;249	E9PDK3;B4DZY5;Q9UJU2-6;Q9UJU2-5;Q9UJU2	.;.;.;.;LEF1_HUMAN	S	249;221;221;153	ENSP00000265165:G249S;ENSP00000369284:G221S;ENSP00000406176:G221S;ENSP00000422840:G153S	ENSP00000265165:G249S	G	-	1	0	LEF1	109220197	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.817000	0.62650	2.768000	0.95171	0.655000	0.94253	GGT		0.468	LEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254749.2		
SEC24B	10427	broad.mit.edu	37	4	110431204	110431204	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr4:110431204G>T	ENST00000265175.5	+	8	1768	c.1713G>T	c.(1711-1713)caG>caT	p.Q571H	SEC24B_ENST00000399100.2_Missense_Mutation_p.Q536H|SEC24B_ENST00000504968.2_Missense_Mutation_p.Q601H	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	571					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)	p.Q536H(1)|p.Q571H(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CACAGACACAGGCTTTACTGA	0.343																																					p.Q571H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1713T	4						.						137.0	115.0	122.0					4																	110431204		1834	4090	5924	110650653	SO:0001583	missense	10427	exon8			AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"""SEC24 (S. cerevisiae) related gene family, member B"", ""SEC24 family, member B (S. cerevisiae)"""			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.1713G>T	4.37:g.110431204G>T	ENSP00000265175:p.Gln571His		110650653	NM_006323	B7ZKM8|B7ZKN4|Q0VG08	Missense_Mutation	SNP	ENST00000265175.5	37	CCDS47124.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.042988	0.75732	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	T;T;T	0.22743	1.94;1.94;1.94	5.47	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.26738	0.0654	L	0.31926	0.97	0.80722	D	1	D;D;D;D;D	0.69078	0.995;0.984;0.995;0.997;0.995	P;P;P;P;P	0.57371	0.664;0.731;0.664;0.819;0.664	T	0.00456	-1.1728	10	0.37606	T	0.19	-8.3338	10.7695	0.46314	0.1454:0.0:0.8546:0.0	.	485;170;601;536;571	B4DTM6;B4E2E1;B7ZKM8;O95487-2;O95487	.;.;.;.;SC24B_HUMAN	H	601;536;571	ENSP00000428564:Q601H;ENSP00000382051:Q536H;ENSP00000265175:Q571H	ENSP00000265175:Q571H	Q	+	3	2	SEC24B	110650653	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.684000	0.61686	2.575000	0.86900	0.563000	0.77884	CAG		0.343	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2		
SEC24D	9871	broad.mit.edu	37	4	119673982	119673982	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr4:119673982G>A	ENST00000280551.6	-	12	1721	c.1483C>T	c.(1483-1485)Cat>Tat	p.H495Y	SEC24D_ENST00000511481.1_Missense_Mutation_p.H126Y|SEC24D_ENST00000505134.1_5'UTR|SEC24D_ENST00000419654.2_Missense_Mutation_p.H51Y|SEC24D_ENST00000429811.2_Missense_Mutation_p.H51Y|SEC24D_ENST00000379735.5_Missense_Mutation_p.H496Y			O94855	SC24D_HUMAN	SEC24 family member D	495					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)	p.H495Y(1)		breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						TTAAAGAAATGGAGAACTTTG	0.388																																					p.H495Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1483T	4						.						84.0	84.0	84.0					4																	119673982		2203	4300	6503	119893430	SO:0001583	missense	9871	exon12			AB018298	CCDS3710.1	4q26	2013-10-21	2013-10-21		ENSG00000150961	ENSG00000150961			10706	protein-coding gene	gene with protein product		607186	"""SEC24 (S. cerevisiae) related gene family, member D"", ""SEC24 family, member D (S. cerevisiae)"""			9872452, 10075675	Standard	NM_014822		Approved	KIAA0755	uc003ici.4	O94855	OTTHUMG00000132957	ENST00000280551.6:c.1483C>T	4.37:g.119673982G>A	ENSP00000280551:p.His495Tyr		119893430	NM_014822	Q8IYI7	Missense_Mutation	SNP	ENST00000280551.6	37	CCDS3710.1	.	.	.	.	.	.	.	.	.	.	G	33	5.254911	0.95336	.	.	ENSG00000150961	ENST00000280551;ENST00000379735;ENST00000429811;ENST00000511481;ENST00000419654	T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07	5.22	5.22	0.72569	Sec23/Sec24, trunk domain (1);	0.000000	0.85682	D	0.000000	D	0.90872	0.7132	M	0.91872	3.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.92843	0.6290	10	0.87932	D	0	-26.1672	18.7735	0.91901	0.0:0.0:1.0:0.0	.	496;495	O94855-2;O94855	.;SC24D_HUMAN	Y	495;496;51;126;51	ENSP00000280551:H495Y;ENSP00000369059:H496Y;ENSP00000409775:H51Y;ENSP00000425491:H126Y;ENSP00000388324:H51Y	ENSP00000280551:H495Y	H	-	1	0	SEC24D	119893430	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	9.787000	0.99055	2.434000	0.82447	0.467000	0.42956	CAT		0.388	SEC24D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256514.4		
KIAA1109	84162	broad.mit.edu	37	4	123265609	123265609	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr4:123265609A>T	ENST00000264501.4	+	74	12999	c.12626A>T	c.(12625-12627)aAa>aTa	p.K4209I	KIAA1109_ENST00000388738.3_Missense_Mutation_p.K4209I			Q2LD37	K1109_HUMAN	KIAA1109	4209					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.K4209I(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GAGTTTGTAAAAGTGAGTTTG	0.403																																					p.K4209I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A12626T	4						.						129.0	125.0	127.0					4																	123265609		1901	4127	6028	123485059	SO:0001583	missense	84162	exon72			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.12626A>T	4.37:g.123265609A>T	ENSP00000264501:p.Lys4209Ile		123485059	NM_015312	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	CCDS43267.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	33|33|33	5.195359|5.195359|5.195359	0.94960|0.94960|0.94960	.|.|.	.|.|.	ENSG00000138688|ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000438707|ENST00000442707|ENST00000306802	T;T;T|.|.	0.40476|.|.	1.77;1.77;1.03|.|.	5.7|5.7|5.7	5.7|5.7|5.7	0.88788|0.88788|0.88788	.|.|.	0.000000|0.000000|0.000000	0.85682|0.85682|0.85682	D|D|D	0.000000|0.000000|0.000000	T|T|.	0.74275|0.74275|.	0.3695|0.3695|.	M|M|M	0.68317|0.68317|0.68317	2.08|2.08|2.08	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D|.|.	0.76494|.|.	0.999;0.999|.|.	D;D|.|.	0.83275|.|.	0.996;0.994|.|.	T|T|.	0.77024|0.77024|.	-0.2741|-0.2741|.	10|6|.	0.87932|.|0.72032	D|.|D	0|.|0.01	.|.|.	15.9823|15.9823|15.9823	0.80121|0.80121|0.80121	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	4208;4209|.|.	Q2LD37-4;Q2LD37|.|.	.;K1109_HUMAN|.|.	I|N|X	4209;4209;878|154|585	ENSP00000264501:K4209I;ENSP00000373390:K4209I;ENSP00000410874:K878I|.|.	ENSP00000264501:K4209I|.|ENSP00000304374:K585X	K|K|K	+|+|+	2|3|1	0|2|0	KIAA1109|KIAA1109|KIAA1109	123485059|123485059|123485059	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.992000|0.992000|0.992000	0.81027|0.81027|0.81027	9.113000|9.113000|9.113000	0.94321|0.94321|0.94321	2.174000|2.174000|2.174000	0.68829|0.68829|0.68829	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	AAA|AAA|AAG		0.403	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797	
KIAA1109	84162	broad.mit.edu	37	4	123268880	123268880	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr4:123268880T>A	ENST00000264501.4	+	76	13448	c.13075T>A	c.(13075-13077)Tcc>Acc	p.S4359T	KIAA1109_ENST00000388738.3_Missense_Mutation_p.S4359T			Q2LD37	K1109_HUMAN	KIAA1109	4359					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.S4359T(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GAGCCTAAAATCCCCAGCTTC	0.468																																					p.S4359T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T13075A	4						.						124.0	124.0	124.0					4																	123268880		2030	4172	6202	123488330	SO:0001583	missense	84162	exon74			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.13075T>A	4.37:g.123268880T>A	ENSP00000264501:p.Ser4359Thr		123488330	NM_015312	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.7|23.7	4.442455|4.442455	0.83993|0.83993	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000306802|ENST00000264501;ENST00000388738;ENST00000438707	.|T;T;T	.|0.31769	.|2.46;2.46;1.48	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.39682|0.39682	0.1087|0.1087	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	.|D;D	.|0.58268	.|0.974;0.982	.|D;D	.|0.70487	.|0.969;0.952	T|T	0.12218|0.12218	-1.0556|-1.0556	5|10	.|0.12430	.|T	.|0.62	.|.	16.8061|16.8061	0.85666|0.85666	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|4358;4359	.|Q2LD37-4;Q2LD37	.|.;K1109_HUMAN	K|T	734|4359;4359;1028	.|ENSP00000264501:S4359T;ENSP00000373390:S4359T;ENSP00000410874:S1028T	.|ENSP00000264501:S4359T	N|S	+|+	3|1	2|0	KIAA1109|KIAA1109	123488330|123488330	1.000000|1.000000	0.71417|0.71417	0.799000|0.799000	0.32177|0.32177	0.991000|0.991000	0.79684|0.79684	7.358000|7.358000	0.79466|0.79466	2.367000|2.367000	0.80283|0.80283	0.528000|0.528000	0.53228|0.53228	AAT|TCC		0.468	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797	
ANKRD50	57182	broad.mit.edu	37	4	125592894	125592894	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr4:125592894C>T	ENST00000504087.1	-	4	2575	c.1538G>A	c.(1537-1539)cGc>cAc	p.R513H	ANKRD50_ENST00000515641.1_Missense_Mutation_p.R334H	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	513										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						GCATGATGTGCGATCGTCTTC	0.428																																					p.R334H												.	.	0			c.G1001A	4						.						113.0	107.0	109.0					4																	125592894		2203	4300	6503	125812344	SO:0001583	missense	57182	exon3			AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.1538G>A	4.37:g.125592894C>T	ENSP00000425658:p.Arg513His		125812344	NM_001167882	A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	C	7.956	0.745906	0.15710	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.66280	-0.2;2.37	4.74	3.89	0.44902	Ankyrin repeat-containing domain (4);	0.137768	0.47455	D	0.000221	T	0.41236	0.1150	N	0.12746	0.255	0.42862	D	0.994117	B	0.14438	0.01	B	0.08055	0.003	T	0.21008	-1.0258	10	0.14656	T	0.56	.	13.4289	0.61042	0.0:0.9231:0.0:0.0769	.	513	Q9ULJ7	ANR50_HUMAN	H	513;334	ENSP00000425658:R513H;ENSP00000425355:R334H	ENSP00000425658:R513H	R	-	2	0	ANKRD50	125812344	1.000000	0.71417	0.994000	0.49952	0.986000	0.74619	4.221000	0.58574	1.199000	0.43173	0.555000	0.69702	CGC		0.428	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337	
FAT4	79633	broad.mit.edu	37	4	126373047	126373047	+	Missense_Mutation	SNP	A	A	G	rs374041907		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr4:126373047A>G	ENST00000394329.3	+	9	10889	c.10876A>G	c.(10876-10878)Aac>Gac	p.N3626D	FAT4_ENST00000335110.5_Missense_Mutation_p.N1924D	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3626					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N3626D(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTATTATGGTAACTTGTTTCC	0.438																																					p.N3626D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A10876G	4						.						68.0	71.0	70.0					4																	126373047		2203	4300	6503	126592497	SO:0001583	missense	79633	exon9			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.10876A>G	4.37:g.126373047A>G	ENSP00000377862:p.Asn3626Asp		126592497	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	A	8.759	0.923117	0.18056	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.16897	2.31;2.31	5.91	3.53	0.40419	.	0.000000	0.36854	U	0.002370	T	0.09992	0.0245	L	0.29908	0.895	0.37537	D	0.918146	B;B;B	0.32467	0.241;0.255;0.372	B;B;B	0.30316	0.08;0.053;0.114	T	0.11397	-1.0589	10	0.07644	T	0.81	.	9.799	0.40753	0.8629:0.0:0.1371:0.0	.	1924;3626;3626	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	D	3626;1924	ENSP00000377862:N3626D;ENSP00000335169:N1924D	ENSP00000335169:N1924D	N	+	1	0	FAT4	126592497	1.000000	0.71417	0.094000	0.20943	0.003000	0.03518	6.169000	0.71913	1.066000	0.40716	-0.250000	0.11733	AAC		0.438	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
BOD1L1	259282	broad.mit.edu	37	4	13604301	13604301	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr4:13604301T>C	ENST00000040738.5	-	10	4358	c.4223A>G	c.(4222-4224)gAc>gGc	p.D1408G		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1408						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.D1408G(1)									CTTGGCCATGTCCACTAAGCC	0.398																																					p.D1408G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4223G	4						.						117.0	116.0	116.0					4																	13604301		2203	4300	6503	13213399	SO:0001583	missense	259282	exon10			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.4223A>G	4.37:g.13604301T>C	ENSP00000040738:p.Asp1408Gly		13213399	NM_148894	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	T	9.536	1.112217	0.20795	.	.	ENSG00000038219	ENST00000040738	T	0.06849	3.25	5.55	4.37	0.52481	.	0.417649	0.22024	N	0.065684	T	0.04907	0.0132	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.35724	-0.9777	10	0.39692	T	0.17	-6.1693	5.7253	0.18010	0.0:0.0873:0.1703:0.7424	.	1408	Q8NFC6	BOD1L_HUMAN	G	1408	ENSP00000040738:D1408G	ENSP00000040738:D1408G	D	-	2	0	BOD1L	13213399	0.002000	0.14202	0.009000	0.14445	0.002000	0.02628	1.135000	0.31454	0.944000	0.37579	0.533000	0.62120	GAC		0.398	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894	
C4orf29	80167	broad.mit.edu	37	4	128941248	128941248	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr4:128941248C>T	ENST00000444616.1	+	9	870	c.623C>T	c.(622-624)gCg>gTg	p.A208V	C4orf29_ENST00000398965.1_Missense_Mutation_p.A208V|C4orf29_ENST00000388795.5_Missense_Mutation_p.A126V			Q0P651	CD029_HUMAN	chromosome 4 open reading frame 29	208						extracellular region (GO:0005576)		p.A208V(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						GCTTCCTTAGCGGTATCCAAC	0.358																																					p.A208V												.	.	2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	c.C623T	4						.						53.0	52.0	53.0					4																	128941248		1847	4080	5927	129160698	SO:0001583	missense	80167	exon9			AK024759	CCDS47131.1	4q28.2	2008-02-05			ENSG00000164074	ENSG00000164074			26111	protein-coding gene	gene with protein product						12477932	Standard	XM_006714318		Approved	FLJ21106	uc021xrt.1	Q0P651	OTTHUMG00000133304	ENST00000444616.1:c.623C>T	4.37:g.128941248C>T	ENSP00000397229:p.Ala208Val		129160698	NM_001039717	A1A4W8|A1A4W9|Q9H7A7	Missense_Mutation	SNP	ENST00000444616.1	37		.	.	.	.	.	.	.	.	.	.	C	34	5.360807	0.95877	.	.	ENSG00000164074	ENST00000454347;ENST00000398961;ENST00000398965;ENST00000444616;ENST00000388795;ENST00000545758;ENST00000437077	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.75258	0.3825	L	0.49350	1.555	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.72701	-0.4214	9	0.35671	T	0.21	-15.5728	18.9776	0.92743	0.0:1.0:0.0:0.0	.	126;208	B7WP89;Q0P651	.;CD029_HUMAN	V	208;5;208;208;126;126;81	.	ENSP00000373447:A126V	A	+	2	0	C4orf29	129160698	1.000000	0.71417	0.991000	0.47740	0.936000	0.57629	7.425000	0.80255	2.486000	0.83907	0.558000	0.71614	GCG		0.358	C4orf29-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257098.1	NM_001039717	
ELMOD2	255520	broad.mit.edu	37	4	141461344	141461344	+	Missense_Mutation	SNP	C	C	T	rs373389261		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr4:141461344C>T	ENST00000323570.3	+	6	554	c.422C>T	c.(421-423)aCg>aTg	p.T141M		NM_153702.3	NP_714913.1	Q8IZ81	ELMD2_HUMAN	ELMO/CED-12 domain containing 2	141	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				defense response to virus (GO:0051607)|phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)|regulation of defense response to virus (GO:0050688)	cytoskeleton (GO:0005856)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)	p.T141M(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7	all_hematologic(180;0.162)					CTAATGCCCACGAAGAAGTTA	0.373																																					p.T141M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C422T	4						.	C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	87.0	85.0	86.0		422	4.0	0.6	4		86	0,8600		0,0,4300	no	missense	ELMOD2	NM_153702.3	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	141/294	141461344	1,13005	2203	4300	6503	141680794	SO:0001583	missense	255520	exon6			BX648349	CCDS3752.1	4q31.1	2006-10-24	2006-01-20		ENSG00000179387	ENSG00000179387			28111	protein-coding gene	gene with protein product		610196	"""ELMO domain containing 2"""			16773575	Standard	NM_153702		Approved	MGC10084	uc003iik.3	Q8IZ81	OTTHUMG00000133417	ENST00000323570.3:c.422C>T	4.37:g.141461344C>T	ENSP00000326342:p.Thr141Met		141680794	NM_153702	B2R712|D3DNZ0	Missense_Mutation	SNP	ENST00000323570.3	37	CCDS3752.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.700402	0.48307	2.27E-4	0.0	ENSG00000179387	ENST00000323570;ENST00000502397;ENST00000513606	T;T;T	0.30448	1.53;1.53;1.53	5.9	3.99	0.46301	Engulfment/cell motility, ELMO (2);	0.623994	0.17848	N	0.159949	T	0.31606	0.0802	L	0.48642	1.525	0.09310	N	1	D	0.53885	0.963	P	0.48795	0.59	T	0.10019	-1.0648	10	0.42905	T	0.14	-0.2803	7.134	0.25517	0.5144:0.3917:0.0:0.0939	.	141	Q8IZ81	ELMD2_HUMAN	M	141;141;64	ENSP00000326342:T141M;ENSP00000422582:T141M;ENSP00000427592:T64M	ENSP00000326342:T141M	T	+	2	0	ELMOD2	141680794	0.984000	0.35163	0.628000	0.29241	0.660000	0.38997	3.356000	0.52269	0.777000	0.33496	0.650000	0.86243	ACG		0.373	ELMOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257277.2	NM_153702	
TBC1D9	23158	broad.mit.edu	37	4	141590098	141590098	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr4:141590098G>A	ENST00000442267.2	-	9	1635	c.1561C>T	c.(1561-1563)Cgt>Tgt	p.R521C		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	521	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.R521C(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				AGCTCCCCACGCATGCTCTCC	0.602																																					p.R521C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1561T	4						.						40.0	48.0	45.0					4																	141590098		2183	4275	6458	141809548	SO:0001583	missense	23158	exon9			AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.1561C>T	4.37:g.141590098G>A	ENSP00000411197:p.Arg521Cys		141809548	NM_015130	A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	ENST00000442267.2	37	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027261	0.75390	.	.	ENSG00000109436	ENST00000442267	T	0.34667	1.35	5.61	4.72	0.59763	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.76912	0.4054	H	0.99525	4.61	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86651	0.1898	10	0.87932	D	0	-7.6536	15.5753	0.76373	0.0:0.0:0.8104:0.1896	.	521	Q6ZT07	TBCD9_HUMAN	C	521	ENSP00000411197:R521C	ENSP00000411197:R521C	R	-	1	0	TBC1D9	141809548	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.070000	0.41491	2.793000	0.96121	0.655000	0.94253	CGT		0.602	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130	
HHIP	64399	broad.mit.edu	37	4	145567966	145567966	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr4:145567966C>T	ENST00000296575.3	+	1	794	c.139C>T	c.(139-141)Cgc>Tgc	p.R47C	HHIP-AS1_ENST00000512359.1_RNA|HHIP-AS1_ENST00000508269.1_RNA|HHIP_ENST00000434550.2_Missense_Mutation_p.R47C|HHIP-AS1_ENST00000503066.1_RNA	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	47	Arg-rich.				carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)	p.R47C(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		CCCCCCGAAGCGCCTGAAAAG	0.587																																					p.R47C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C139T	4						.						74.0	82.0	79.0					4																	145567966		2203	4300	6503	145787416	SO:0001583	missense	64399	exon1			AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"""hedgehog-interacting protein"""			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.139C>T	4.37:g.145567966C>T	ENSP00000296575:p.Arg47Cys		145787416	NM_022475	Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Missense_Mutation	SNP	ENST00000296575.3	37	CCDS3762.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550574	0.65311	.	.	ENSG00000164161	ENST00000296575;ENST00000434550	T;T	0.77877	-1.13;-1.13	5.11	4.2	0.49525	Folate receptor-like (1);	0.055749	0.64402	D	0.000001	D	0.83940	0.5363	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	0.996;1.0	P;P	0.60682	0.823;0.878	D	0.86076	0.1541	10	0.87932	D	0	-15.1929	14.3452	0.66658	0.1487:0.8513:0.0:0.0	.	47;47	Q96QV1;Q96QV1-2	HHIP_HUMAN;.	C	47	ENSP00000296575:R47C;ENSP00000408587:R47C	ENSP00000296575:R47C	R	+	1	0	HHIP	145787416	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.706000	0.61845	2.373000	0.80994	0.650000	0.86243	CGC		0.587	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2		
EDNRA	1909	broad.mit.edu	37	4	148407113	148407113	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr4:148407113G>T	ENST00000324300.5	+	2	795	c.280G>T	c.(280-282)Gga>Tga	p.G94*	EDNRA_ENST00000358556.4_Nonsense_Mutation_p.G94*|EDNRA_ENST00000506066.1_Nonsense_Mutation_p.G94*|EDNRA_ENST00000511804.1_Intron|EDNRA_ENST00000339690.5_Nonsense_Mutation_p.G94*	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	94					activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|glomerular filtration (GO:0003094)|glucose transport (GO:0015758)|head development (GO:0060322)|heart development (GO:0007507)|histamine secretion (GO:0001821)|in utero embryonic development (GO:0001701)|maternal process involved in parturition (GO:0060137)|metabolic process (GO:0008152)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP biosynthetic process (GO:0030818)|neural crest cell development (GO:0014032)|patterning of blood vessels (GO:0001569)|penile erection (GO:0043084)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of kidney development (GO:0090184)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of odontogenesis (GO:0042482)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|smooth muscle cell proliferation (GO:0048659)|smooth muscle contraction (GO:0006939)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	endothelin receptor activity (GO:0004962)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.G94*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Acetylsalicylic acid(DB00945)|Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	TTTCATCGTGGGAATGGTGGG	0.443																																					p.G94X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G280T	4						.						167.0	160.0	162.0					4																	148407113		2203	4300	6503	148626563	SO:0001587	stop_gained	1909	exon2			D90348	CCDS3769.1, CCDS54810.1, CCDS58927.1	4q31.22	2013-09-20			ENSG00000151617	ENSG00000151617		"""GPCR / Class A : Endothelin receptors"""	3179	protein-coding gene	gene with protein product		131243				1659806	Standard	NM_001957		Approved		uc003iky.3	P25101	OTTHUMG00000161354	ENST00000324300.5:c.280G>T	4.37:g.148407113G>T	ENSP00000315011:p.Gly94*		148626563	NM_001166055	B2R723|B4E2V6|B7Z9G6|D3DP03|E7ER36|O43441|Q16432|Q16433|Q8TBH2	Nonsense_Mutation	SNP	ENST00000324300.5	37	CCDS3769.1	.	.	.	.	.	.	.	.	.	.	G	38	7.118047	0.98074	.	.	ENSG00000151617	ENST00000358556;ENST00000339690;ENST00000394047;ENST00000324300;ENST00000506066	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-13.3201	20.422	0.99049	0.0:0.0:1.0:0.0	.	.	.	.	X	94	.	ENSP00000315011:G94X	G	+	1	0	EDNRA	148626563	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.414000	0.97362	2.832000	0.97577	0.655000	0.94253	GGA		0.443	EDNRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364635.1		
NR3C2	4306	broad.mit.edu	37	4	149357477	149357477	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr4:149357477G>A	ENST00000358102.3	-	2	898	c.536C>T	c.(535-537)gCc>gTc	p.A179V	NR3C2_ENST00000355292.3_Missense_Mutation_p.A179V|NR3C2_ENST00000511528.1_Missense_Mutation_p.A179V|NR3C2_ENST00000344721.4_Missense_Mutation_p.A179V|NR3C2_ENST00000512865.1_Missense_Mutation_p.A179V	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	179	Modulating.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.A179V(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	TTTAACAACGGCGCGCATGAC	0.507																																					p.A179V	Melanoma(27;428 957 40335 51025 51111)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C536T	4						.						105.0	105.0	105.0					4																	149357477		2203	4300	6503	149576927	SO:0001583	missense	4306	exon2			M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.536C>T	4.37:g.149357477G>A	ENSP00000350815:p.Ala179Val		149576927	NM_001166104	B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	ENST00000358102.3	37	CCDS3772.1	.	.	.	.	.	.	.	.	.	.	G	2.744	-0.261489	0.05791	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000544252;ENST00000342437;ENST00000511528	D;D;D;D;D;D	0.90324	-2.65;-2.65;-2.65;-2.23;-2.25;-2.65	5.38	4.53	0.55603	.	1.218750	0.05693	N	0.592650	D	0.87350	0.6155	L	0.36672	1.1	0.09310	N	1	B;B	0.14805	0.0;0.011	B;B	0.08055	0.001;0.003	T	0.71293	-0.4636	9	.	.	.	.	13.2096	0.59817	0.0:0.0:0.7103:0.2897	.	179;179	B0ZBF5;B0ZBF6	.;.	V	179	ENSP00000341390:A179V;ENSP00000347441:A179V;ENSP00000350815:A179V;ENSP00000423510:A179V;ENSP00000343907:A179V;ENSP00000421481:A179V	.	A	-	2	0	NR3C2	149576927	0.914000	0.31030	0.006000	0.13384	0.117000	0.20001	4.358000	0.59442	1.247000	0.43917	0.467000	0.42956	GCC		0.507	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1		
SH3D19	152503	broad.mit.edu	37	4	152049322	152049322	+	Splice_Site	SNP	C	C	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr4:152049322C>A	ENST00000409252.2	-	18	2865	c.2158G>T	c.(2158-2160)Gct>Tct	p.A720S	SH3D19_ENST00000304527.4_Splice_Site_p.A720S|SH3D19_ENST00000455740.1_Splice_Site_p.A697S|SH3D19_ENST00000409598.4_Splice_Site_p.A697S|SH3D19_ENST00000514152.1_Splice_Site_p.A697S|SH3D19_ENST00000427414.2_Splice_Site_p.A661S|SH3D19_ENST00000424281.1_Splice_Site_p.A661S			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	720	SH3 4. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cytoskeleton organization (GO:0007010)|membrane organization (GO:0061024)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of cell morphogenesis (GO:0022604)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)	p.A717S(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				GTTGTCATACCTGGGCAGGGC	0.542																																					p.A720S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2158T	4						.						74.0	70.0	71.0					4																	152049322		2203	4300	6503	152268772	SO:0001630	splice_region_variant	152503	exon19			BX647422	CCDS34077.2, CCDS47143.1, CCDS47144.1	4q31.3	2009-03-05	2009-03-05	2009-03-05	ENSG00000109686	ENSG00000109686			30418	protein-coding gene	gene with protein product	"""EEN binding protein"""	608674				12477932	Standard	NM_001009555		Approved	DKFZp434D0215, EVE1, EBP, Kryn, SH3P19	uc010ipl.1	Q5HYK7	OTTHUMG00000154051	ENST00000409252.2:c.2158+1G>T	4.37:g.152049322C>A			152268772	NM_001009555	B7Z296|Q08EK1|Q32N10|Q5U3B8|Q86XB3|Q8N5E7|Q9UFC8	Missense_Mutation	SNP	ENST00000409252.2	37	CCDS34077.2	.	.	.	.	.	.	.	.	.	.	C	17.98	3.520205	0.64747	.	.	ENSG00000109686	ENST00000409598;ENST00000304527;ENST00000455740;ENST00000424281;ENST00000427414;ENST00000409252;ENST00000514152	T;T;T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62;1.62;1.62	5.26	5.26	0.73747	Src homology-3 domain (2);	0.000000	0.52532	D	0.000063	T	0.47284	0.1437	L	0.42245	1.32	0.58432	D	0.999999	P;P;P;D	0.67145	0.86;0.914;0.715;0.996	P;P;P;D	0.65233	0.512;0.706;0.483;0.933	T	0.25467	-1.0131	9	.	.	.	-6.4131	18.8654	0.92290	0.0:1.0:0.0:0.0	.	720;697;661;475	Q5HYK7;Q5HYK7-2;Q5HYK7-3;B3KY23	SH319_HUMAN;.;.;.	S	697;720;697;661;661;720;697	ENSP00000387030:A697S;ENSP00000302913:A720S;ENSP00000416708:A697S;ENSP00000404542:A661S;ENSP00000415694:A661S;ENSP00000386848:A720S;ENSP00000423449:A697S	.	A	-	1	0	SH3D19	152268772	1.000000	0.71417	0.999000	0.59377	0.451000	0.32288	7.050000	0.76620	2.469000	0.83416	0.655000	0.94253	GCT		0.542	SH3D19-002	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335132.3	NM_001009555	Missense_Mutation
SH3D19	152503	broad.mit.edu	37	4	152060948	152060948	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr4:152060948C>T	ENST00000409252.2	-	13	2211	c.1504G>A	c.(1504-1506)Gtt>Att	p.V502I	SH3D19_ENST00000304527.4_Missense_Mutation_p.V502I|SH3D19_ENST00000455740.1_Missense_Mutation_p.V479I|SH3D19_ENST00000409598.4_Missense_Mutation_p.V479I|RP11-372K14.2_ENST00000603472.1_RNA|SH3D19_ENST00000514152.1_Missense_Mutation_p.V479I|SH3D19_ENST00000427414.2_Missense_Mutation_p.V443I|SH3D19_ENST00000424281.1_Missense_Mutation_p.V443I			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	502	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cytoskeleton organization (GO:0007010)|membrane organization (GO:0061024)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of cell morphogenesis (GO:0022604)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)	p.V499I(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TCATGAAGAACGACAGCATGA	0.512																																					p.V502I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1504A	4						.						107.0	100.0	102.0					4																	152060948		2203	4300	6503	152280398	SO:0001583	missense	152503	exon14			BX647422	CCDS34077.2, CCDS47143.1, CCDS47144.1	4q31.3	2009-03-05	2009-03-05	2009-03-05	ENSG00000109686	ENSG00000109686			30418	protein-coding gene	gene with protein product	"""EEN binding protein"""	608674				12477932	Standard	NM_001009555		Approved	DKFZp434D0215, EVE1, EBP, Kryn, SH3P19	uc010ipl.1	Q5HYK7	OTTHUMG00000154051	ENST00000409252.2:c.1504G>A	4.37:g.152060948C>T	ENSP00000386848:p.Val502Ile		152280398	NM_001009555	B7Z296|Q08EK1|Q32N10|Q5U3B8|Q86XB3|Q8N5E7|Q9UFC8	Missense_Mutation	SNP	ENST00000409252.2	37	CCDS34077.2	.	.	.	.	.	.	.	.	.	.	C	12.96	2.093237	0.36952	.	.	ENSG00000109686	ENST00000409598;ENST00000304527;ENST00000455740;ENST00000424281;ENST00000427414;ENST00000409252;ENST00000514152	T;T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69;0.69	5.35	5.35	0.76521	Src homology-3 domain (4);	0.941049	0.08860	N	0.883162	T	0.50360	0.1611	M	0.61387	1.9	0.09310	N	0.999993	B;B;B;B	0.18461	0.028;0.023;0.021;0.007	B;B;B;B	0.24394	0.053;0.021;0.013;0.008	T	0.42799	-0.9430	10	0.56958	D	0.05	-4.1908	12.4166	0.55496	0.0:0.9228:0.0:0.0772	.	502;479;443;257	Q5HYK7;Q5HYK7-2;Q5HYK7-3;B3KY23	SH319_HUMAN;.;.;.	I	479;502;479;443;443;502;479	ENSP00000387030:V479I;ENSP00000302913:V502I;ENSP00000416708:V479I;ENSP00000404542:V443I;ENSP00000415694:V443I;ENSP00000386848:V502I;ENSP00000423449:V479I	ENSP00000302913:V502I	V	-	1	0	SH3D19	152280398	0.984000	0.35163	0.876000	0.34364	0.945000	0.59286	2.813000	0.48002	2.484000	0.83849	0.655000	0.94253	GTT		0.512	SH3D19-002	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335132.3	NM_001009555	
TLR2	7097	broad.mit.edu	37	4	154624408	154624408	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr4:154624408T>G	ENST00000260010.6	+	1	1757	c.349T>G	c.(349-351)Tct>Gct	p.S117A		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	117					apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|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)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)	p.S117A(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	TAATTTATCGTCTTCCTGGTT	0.353																																					p.S117A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T349G	4						.						41.0	45.0	43.0					4																	154624408		2203	4300	6503	154843858	SO:0001583	missense	7097	exon3			U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"""CD molecules"""	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.349T>G	4.37:g.154624408T>G	ENSP00000260010:p.Ser117Ala		154843858	NM_003264	B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Missense_Mutation	SNP	ENST00000260010.6	37	CCDS3784.1	.	.	.	.	.	.	.	.	.	.	T	2.501	-0.315212	0.05422	.	.	ENSG00000137462	ENST00000260010	T	0.00995	5.46	6.03	0.806	0.18708	.	0.257189	0.38326	N	0.001726	T	0.00552	0.0018	N	0.12422	0.21	0.24151	N	0.995696	B	0.02656	0.0	B	0.17098	0.017	T	0.48927	-0.8991	10	0.02654	T	1	.	6.4446	0.21869	0.0:0.1156:0.5201:0.3643	.	117	O60603	TLR2_HUMAN	A	117	ENSP00000260010:S117A	ENSP00000260010:S117A	S	+	1	0	TLR2	154843858	0.000000	0.05858	0.664000	0.29753	0.862000	0.49288	0.242000	0.18087	0.141000	0.18875	0.533000	0.62120	TCT		0.353	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365205.1		
DCHS2	54798	broad.mit.edu	37	4	155226284	155226284	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	A	A	A	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr4:155226284A>G	ENST00000357232.4	-	16	3994	c.3995T>C	c.(3994-3996)cTt>cCt	p.L1332P		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1332	Cadherin 11. {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)			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)		TTCTCTGTCAAGTATGGTGGT	0.343																																					p.L1332P												.	.	0			c.T3995C	4						.						43.0	43.0	43.0					4																	155226284		2203	4300	6503	155445734	SO:0001583	missense	54798	exon16			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.3995T>C	4.37:g.155226284A>G	ENSP00000349768:p.Leu1332Pro		155445734	NM_017639	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	A	18.53	3.643115	0.67244	.	.	ENSG00000197410	ENST00000357232	T	0.75154	-0.91	6.03	6.03	0.97812	Cadherin (4);Cadherin-like (1);	0.337900	0.25668	N	0.029092	D	0.87900	0.6294	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.89052	0.3456	10	0.54805	T	0.06	.	16.5655	0.84588	1.0:0.0:0.0:0.0	.	1332	Q6V1P9	PCD23_HUMAN	P	1332	ENSP00000349768:L1332P	ENSP00000349768:L1332P	L	-	2	0	DCHS2	155445734	0.986000	0.35501	0.308000	0.25141	0.598000	0.36846	6.261000	0.72509	2.302000	0.77476	0.533000	0.62120	CTT		0.343	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552	
FGG	2266	broad.mit.edu	37	4	155530902	155530902	+	Silent	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr4:155530902A>G	ENST00000336098.3	-	6	584	c.546T>C	c.(544-546)atT>atC	p.I182I	FGG_ENST00000405164.1_Silent_p.I190I|FGG_ENST00000404648.3_Silent_p.I182I|FGG_ENST00000407946.1_Silent_p.I190I	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	182	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)	p.I182I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CCTTATTGGCAATGTCTTGAC	0.393																																					p.I182I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T546C	4						.						99.0	96.0	97.0					4																	155530902		2203	4300	6503	155750352	SO:0001819	synonymous_variant	2266	exon6				CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3694	protein-coding gene	gene with protein product		134850	"""fibrinogen, gamma polypeptide"""				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.546T>C	4.37:g.155530902A>G			155750352	NM_021870	A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Silent	SNP	ENST00000336098.3	37	CCDS3788.1																																																																																				0.393	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1	NM_021870	
RBM46	166863	broad.mit.edu	37	4	155720155	155720155	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr4:155720155C>T	ENST00000281722.3	+	4	1076	c.841C>T	c.(841-843)Cga>Tga	p.R281*	RBM46_ENST00000514866.1_Nonsense_Mutation_p.R281*|RBM46_ENST00000510397.1_Nonsense_Mutation_p.R281*	NM_144979.3	NP_659416.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	281	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.R281*(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				CTTTTTCAACCGAGAAGATGC	0.363																																					p.R281X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C841T	4						.						93.0	84.0	87.0					4																	155720155		2203	4300	6503	155939605	SO:0001587	stop_gained	166863	exon4			BC028588	CCDS3790.1, CCDS64085.1, CCDS64086.1	4q32.1	2013-02-12				ENSG00000151962		"""RNA binding motif (RRM) containing"""	28401	protein-coding gene	gene with protein product	"""cancer/testis antigen 68"""					12477932	Standard	NM_144979		Approved	MGC27016, CT68	uc003ioo.4	Q8TBY0		ENST00000281722.3:c.841C>T	4.37:g.155720155C>T	ENSP00000281722:p.Arg281*		155939605	NM_144979	B3KWU8|B4DZ27	Nonsense_Mutation	SNP	ENST00000281722.3	37	CCDS3790.1	.	.	.	.	.	.	.	.	.	.	C	37	6.108381	0.97291	.	.	ENSG00000151962	ENST00000514866;ENST00000281722;ENST00000510397	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.0731	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	281	.	ENSP00000281722:R281X	R	+	1	2	RBM46	155939605	0.989000	0.36119	1.000000	0.80357	0.993000	0.82548	2.179000	0.42528	2.941000	0.99782	0.655000	0.94253	CGA		0.363	RBM46-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365259.1	NM_144979	
GUCY1A3	2982	broad.mit.edu	37	4	156634713	156634713	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr4:156634713G>T	ENST00000296518.7	+	7	1759	c.1550G>T	c.(1549-1551)tGt>tTt	p.C517F	GUCY1A3_ENST00000455639.2_Missense_Mutation_p.C517F|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.C517F|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.C517F|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.C517F|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.C259F|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.C517F			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	517	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				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.C517F(2)		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)		GACCAGCAGTGTGGAGAGCTG	0.512																																					p.C517F												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G1550T	4						.						46.0	40.0	42.0					4																	156634713		2203	4300	6503	156854163	SO:0001583	missense	2982	exon7				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.1550G>T	4.37:g.156634713G>T	ENSP00000296518:p.Cys517Phe		156854163	NM_001130682	D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	ENST00000296518.7	37	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.634672	0.87660	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000393832;ENST00000296518;ENST00000513574	D;D;D;D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87;-1.87;-1.87;-1.87	5.78	5.78	0.91487	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.64402	D	0.000001	D	0.93789	0.8014	M	0.87038	2.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94114	0.7373	10	0.87932	D	0	.	20.0086	0.97443	0.0:0.0:1.0:0.0	.	517;517	B3KU69;Q02108	.;GCYA3_HUMAN	F	517;517;517;517;259;517;517	ENSP00000424361:C517F;ENSP00000421493:C517F;ENSP00000426968:C517F;ENSP00000412201:C517F;ENSP00000377418:C259F;ENSP00000296518:C517F;ENSP00000426040:C517F	ENSP00000296518:C517F	C	+	2	0	GUCY1A3	156854163	1.000000	0.71417	0.979000	0.43373	0.997000	0.91878	9.835000	0.99442	2.717000	0.92951	0.655000	0.94253	TGT		0.512	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2		
TRIM60	166655	broad.mit.edu	37	4	165962393	165962393	+	Missense_Mutation	SNP	G	G	A	rs143583038		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr4:165962393G>A	ENST00000512596.1	+	3	1385	c.1169G>A	c.(1168-1170)cGa>cAa	p.R390Q	TRIM60_ENST00000341062.5_Missense_Mutation_p.R390Q|TRIM60_ENST00000508504.1_Missense_Mutation_p.R390Q	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	390	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.R390Q(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		GCAATTGGGCGATACATGAAG	0.448													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17987	0.0		0.0	False		,,,				2504	0.0				p.R390Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1169A	4						.	G	GLN/ARG	0,4406		0,0,2203	119.0	122.0	121.0		1169	-3.1	0.0	4	dbSNP_134	121	1,8599	1.2+/-3.3	0,1,4299	no	missense	TRIM60	NM_152620.2	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	390/472	165962393	1,13005	2203	4300	6503	166181843	SO:0001583	missense	166655	exon3			AK093201	CCDS3808.1	4q32.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000176979	ENSG00000176979		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21162	protein-coding gene	gene with protein product			"""ring finger protein 129"", ""tripartite motif-containing 60"""	RNF129, RNF33			Standard	NM_152620		Approved	FLJ35882	uc003iqy.1	Q495X7	OTTHUMG00000161262	ENST00000512596.1:c.1169G>A	4.37:g.165962393G>A	ENSP00000421142:p.Arg390Gln		166181843	NM_152620	Q8NA35	Missense_Mutation	SNP	ENST00000512596.1	37	CCDS3808.1	.	.	.	.	.	.	.	.	.	.	G	8.133	0.783620	0.16189	0.0	1.16E-4	ENSG00000176979	ENST00000512596;ENST00000508504;ENST00000341062	T;T;T	0.61158	0.13;0.13;0.13	2.55	-3.06	0.05379	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.272689	0.17470	U	0.173136	T	0.32102	0.0818	N	0.20574	0.59	0.09310	N	1	B	0.22414	0.069	B	0.17098	0.017	T	0.06789	-1.0807	10	0.49607	T	0.09	.	3.3293	0.07079	0.2402:0.0:0.2502:0.5096	.	390	Q495X7	TRI60_HUMAN	Q	390	ENSP00000421142:R390Q;ENSP00000426496:R390Q;ENSP00000343765:R390Q	ENSP00000343765:R390Q	R	+	2	0	TRIM60	166181843	0.000000	0.05858	0.001000	0.08648	0.042000	0.13812	-1.433000	0.02428	-0.958000	0.03622	-1.431000	0.01090	CGA		0.448	TRIM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364325.1	NM_152620	
LETM1	3954	broad.mit.edu	37	4	1843148	1843148	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr4:1843148C>T	ENST00000302787.2	-	3	816	c.520G>A	c.(520-522)Gac>Aac	p.D174N		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	174	LETM1.				cristae formation (GO:0042407)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)	p.D174N(1)		breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			ATCTTGGTGTCGATCCATAGC	0.632																																					p.D174N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G520A	4						.						49.0	45.0	46.0					4																	1843148		2203	4300	6503	1812946	SO:0001583	missense	3954	exon3			AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924		"""EF-hand domain containing"""	6556	protein-coding gene	gene with protein product	"""Mdm38 homolog (yeast)"""	604407				10486213	Standard	NM_012318		Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.520G>A	4.37:g.1843148C>T	ENSP00000305653:p.Asp174Asn		1812946	NM_012318	B4DED2|Q9UF65	Missense_Mutation	SNP	ENST00000302787.2	37	CCDS3355.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.495504	0.85069	.	.	ENSG00000168924	ENST00000302787;ENST00000417150	T	0.53857	0.6	4.75	4.75	0.60458	LETM1-like (1);	0.000000	0.85682	D	0.000000	T	0.65790	0.2725	L	0.44542	1.39	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.71870	0.975;0.895	T	0.67719	-0.5598	10	0.56958	D	0.05	-47.2191	17.9358	0.89012	0.0:1.0:0.0:0.0	.	174;174	O95202-3;O95202	.;LETM1_HUMAN	N	174;134	ENSP00000305653:D174N	ENSP00000305653:D174N	D	-	1	0	LETM1	1812946	1.000000	0.71417	0.989000	0.46669	0.094000	0.18550	7.512000	0.81728	2.477000	0.83638	0.563000	0.77884	GAC		0.632	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241634.1		
SH3RF1	57630	broad.mit.edu	37	4	170057676	170057676	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr4:170057676G>A	ENST00000284637.9	-	5	1202	c.861C>T	c.(859-861)agC>agT	p.S287S	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	287					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|protein ubiquitination (GO:0016567)|regulation of JNK cascade (GO:0046328)	cell projection (GO:0042995)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.S287S(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TTGGGGCAGTGCTGCTCTGGG	0.547																																					p.S287S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C861T	4						.						170.0	153.0	159.0					4																	170057676		2203	4300	6503	170294251	SO:0001819	synonymous_variant	57630	exon5			BC033203	CCDS34099.1	4q32.3	2013-01-09	2006-02-13	2006-02-13	ENSG00000154447	ENSG00000154447		"""RING-type (C3HC4) zinc fingers"""	17650	protein-coding gene	gene with protein product	"""plenty of SH3 domains"""		"""SH3 multiple domains 2"""	SH3MD2		9482736	Standard	NM_020870		Approved	POSH, RNF142, KIAA1494	uc003isa.1	Q7Z6J0	OTTHUMG00000161010	ENST00000284637.9:c.861C>T	4.37:g.170057676G>A			170294251	NM_020870	Q05BT2|Q8IW46|Q9HAM2|Q9P234	Missense_Mutation	SNP	ENST00000284637.9	37	CCDS34099.1																																																																																				0.547	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363382.3	NM_020870	
CENPU	79682	broad.mit.edu	37	4	185637730	185637730	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr4:185637730T>C	ENST00000281453.5	-	6	509	c.439A>G	c.(439-441)Aca>Gca	p.T147A	MLF1IP_ENST00000506535.1_5'Flank|MLF1IP_ENST00000541971.1_Missense_Mutation_p.T147A	NM_024629.3	NP_078905.2												p.T147A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|stomach(1)	13		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146)		all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419)		TTTCTCCTTGTATCACTTTCT	0.393																																					p.T147A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A439G	4						.						123.0	109.0	114.0					4																	185637730		2203	4300	6503	185874724	SO:0001583	missense	79682	exon6																														ENST00000281453.5:c.439A>G	4.37:g.185637730T>C	ENSP00000281453:p.Thr147Ala		185874724	NM_024629		Missense_Mutation	SNP	ENST00000281453.5	37	CCDS3838.1	.	.	.	.	.	.	.	.	.	.	T	6.978	0.550481	0.13374	.	.	ENSG00000151725	ENST00000281453;ENST00000541665;ENST00000541971;ENST00000514781	T;T;T	0.23147	1.92;1.92;1.92	4.06	-5.99	0.02213	.	1.148870	0.06537	N	0.742591	T	0.17662	0.0424	N	0.22421	0.69	0.09310	N	1	B;B	0.21688	0.016;0.059	B;B	0.25506	0.016;0.061	T	0.31530	-0.9940	10	0.39692	T	0.17	-26.3597	13.5144	0.61533	0.0:0.7843:0.0:0.2157	.	147;147	Q09GN1;Q71F23	.;CENPU_HUMAN	A	147;147;147;118	ENSP00000281453:T147A;ENSP00000445862:T147A;ENSP00000423167:T118A	ENSP00000281453:T147A	T	-	1	0	MLF1IP	185874724	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.986000	0.01484	-1.322000	0.02278	-0.605000	0.04089	ACA		0.393	MLF1IP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360841.2		
TLR3	7098	broad.mit.edu	37	4	187005256	187005256	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr4:187005256A>G	ENST00000296795.3	+	4	2520	c.2416A>G	c.(2416-2418)Agc>Ggc	p.S806G	TLR3_ENST00000504367.1_Missense_Mutation_p.S529G	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	806	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.S806G(1)		breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		AATTGTTAACAGCATCAAAAG	0.333																																					p.S806G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2416G	4						.						59.0	63.0	62.0					4																	187005256		2202	4299	6501	187242250	SO:0001583	missense	7098	exon4			U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"""CD molecules"""	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.2416A>G	4.37:g.187005256A>G	ENSP00000296795:p.Ser806Gly		187242250	NM_003265	B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Missense_Mutation	SNP	ENST00000296795.3	37	CCDS3846.1	.	.	.	.	.	.	.	.	.	.	A	9.639	1.138431	0.21123	.	.	ENSG00000164342	ENST00000296795;ENST00000542020;ENST00000504367	T;T	0.02323	4.34;4.34	5.98	4.82	0.62117	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.163357	0.64402	D	0.000002	T	0.03695	0.0105	L	0.54863	1.705	0.33642	D	0.607423	B	0.21381	0.055	B	0.26969	0.075	T	0.11817	-1.0572	10	0.31617	T	0.26	.	6.0114	0.19578	0.6836:0.0:0.0689:0.2474	.	806	O15455	TLR3_HUMAN	G	806;806;529	ENSP00000296795:S806G;ENSP00000423684:S529G	ENSP00000296795:S806G	S	+	1	0	TLR3	187242250	0.999000	0.42202	0.963000	0.40424	0.968000	0.65278	4.078000	0.57606	2.288000	0.76882	0.528000	0.53228	AGC		0.333	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4		
FAT1	2195	broad.mit.edu	37	4	187539874	187539874	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr4:187539874A>T	ENST00000441802.2	-	10	8075	c.7866T>A	c.(7864-7866)gaT>gaA	p.D2622E		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2622	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D2622E(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CCTCATCGGCATCACTTGCAA	0.438										HNSCC(5;0.00058)																											p.D2622E	Colon(197;1040 2055 4143 4984 49344)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T7866A	4						.						63.0	60.0	61.0					4																	187539874		1959	4132	6091	187776868	SO:0001583	missense	2195	exon10			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.7866T>A	4.37:g.187539874A>T	ENSP00000406229:p.Asp2622Glu		187776868	NM_005245		Missense_Mutation	SNP	ENST00000441802.2	37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	A	11.73	1.726009	0.30593	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.73897	-0.79	5.2	-10.4	0.00318	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.89354	0.6691	H	0.97758	4.07	0.40913	D	0.984242	D	0.89917	1.0	D	0.91635	0.999	D	0.93408	0.6766	10	0.87932	D	0	.	22.7218	0.99975	0.822:0.0:0.178:0.0	.	2622	Q14517	FAT1_HUMAN	E	2622;2624	ENSP00000406229:D2622E	ENSP00000260147:D2624E	D	-	3	2	FAT1	187776868	0.331000	0.24713	0.027000	0.17364	0.075000	0.17131	-0.087000	0.11215	-3.253000	0.00204	-1.125000	0.01998	GAT		0.438	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245	
HTT	3064	broad.mit.edu	37	4	3131671	3131671	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr4:3131671C>G	ENST00000355072.5	+	13	1909	c.1764C>G	c.(1762-1764)aaC>aaG	p.N588K		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	588		Cleavage; by apopain. {ECO:0000255}.			anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)	p.N588K(1)		breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GTACCGACAACCAGTATTTGG	0.507																																					p.N588K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1764G	4						.						97.0	94.0	95.0					4																	3131671		1899	4133	6032	3101469	SO:0001583	missense	3064	exon13			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.1764C>G	4.37:g.3131671C>G	ENSP00000347184:p.Asn588Lys		3101469	NM_002111	Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.489598	0.26686	.	.	ENSG00000197386	ENST00000355072	T	0.04551	3.6	4.5	4.5	0.54988	Armadillo-type fold (1);	0.216960	0.56097	D	0.000036	T	0.03348	0.0097	N	0.08118	0	0.45076	D	0.998097	B	0.15930	0.015	B	0.16289	0.015	T	0.50906	-0.8772	10	0.45353	T	0.12	.	13.5373	0.61653	0.1661:0.8339:0.0:0.0	.	588	P42858	HD_HUMAN	K	588	ENSP00000347184:N588K	ENSP00000347184:N588K	N	+	3	2	HTT	3101469	1.000000	0.71417	0.984000	0.44739	0.581000	0.36288	1.473000	0.35387	2.224000	0.72417	0.561000	0.74099	AAC		0.507	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111	
EVC2	132884	broad.mit.edu	37	4	5682992	5682992	+	Missense_Mutation	SNP	C	C	T	rs560409382	byFrequency	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr4:5682992C>T	ENST00000344408.5	-	7	918	c.865G>A	c.(865-867)Gta>Ata	p.V289I	EVC2_ENST00000344938.1_Missense_Mutation_p.V289I|EVC2_ENST00000310917.2_Missense_Mutation_p.V209I	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	289					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.V289I(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CTTACCGTTACGTTTTCTTCT	0.502																																					p.V209I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G625A	4						.						272.0	227.0	242.0					4																	5682992		2203	4300	6503	5733893	SO:0001583	missense	132884	exon7			AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.865G>A	4.37:g.5682992C>T	ENSP00000342144:p.Val289Ile		5733893	NM_001166136	Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.281878	0.00251	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.76448	-1.02;-1.02;-1.02	3.98	-4.0	0.04057	.	0.147922	0.46145	N	0.000318	T	0.30510	0.0767	N	0.00197	-1.87	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.53337	-0.8453	10	0.09084	T	0.74	-0.5474	6.8976	0.24265	0.0:0.5012:0.1585:0.3403	.	289	Q86UK5	LBN_HUMAN	I	289;209;289	ENSP00000339954:V289I;ENSP00000311683:V209I;ENSP00000342144:V289I	ENSP00000311683:V209I	V	-	1	0	EVC2	5733893	0.001000	0.12720	0.070000	0.20053	0.012000	0.07955	-2.177000	0.01261	-0.800000	0.04433	-0.360000	0.07572	GTA		0.502	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127	
SH3TC1	54436	broad.mit.edu	37	4	8242592	8242592	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr4:8242592C>T	ENST00000245105.3	+	18	3988	c.3921C>T	c.(3919-3921)ttC>ttT	p.F1307F	SH3TC1_ENST00000539824.1_Silent_p.F1231F	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	1307								p.F1307F(1)		NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CCAGGACCTTCGCCACAGAGC	0.627																																					p.F1307F	NSCLC(145;2298 2623 35616 37297)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3921T	4						.						73.0	73.0	73.0					4																	8242592		2203	4300	6503	8293492	SO:0001819	synonymous_variant	54436	exon18			AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.3921C>T	4.37:g.8242592C>T			8293492	NM_018986	Q4W5G5	Silent	SNP	ENST00000245105.3	37	CCDS3399.1																																																																																				0.627	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986	
ARAP2	116984	broad.mit.edu	37	4	36230298	36230298	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr4:36230298G>A	ENST00000303965.4	-	2	1300	c.811C>T	c.(811-813)Cgt>Tgt	p.R271C		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	271					regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)	p.R271C(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						AACTTGCTACGACTTCTCACA	0.428																																					p.R271C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C811T	4						.						132.0	125.0	128.0					4																	36230298		2203	4300	6503	35906693	SO:0001583	missense	116984	exon2			AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.811C>T	4.37:g.36230298G>A	ENSP00000302895:p.Arg271Cys		35906693	NM_015230	Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	ENST00000303965.4	37	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.218679	0.39201	.	.	ENSG00000047365	ENST00000303965	T	0.08458	3.09	5.98	5.14	0.70334	.	0.152597	0.42821	D	0.000643	T	0.09024	0.0223	L	0.40543	1.245	0.40159	D	0.977049	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.09729	-1.0661	10	0.40728	T	0.16	.	13.4438	0.61129	0.0:0.1567:0.8433:0.0	.	201;271	A7E2A5;Q8WZ64	.;ARAP2_HUMAN	C	271	ENSP00000302895:R271C	ENSP00000302895:R271C	R	-	1	0	ARAP2	35906693	0.206000	0.23470	1.000000	0.80357	0.964000	0.63967	1.045000	0.30341	1.555000	0.49500	-0.155000	0.13514	CGT		0.428	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230	
RPL9	6133	broad.mit.edu	37	4	39458151	39458151	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr4:39458151C>T	ENST00000449470.2	-	4	714	c.266G>A	c.(265-267)cGt>cAt	p.R89H	LIAS_ENST00000261434.3_5'Flank|LIAS_ENST00000340169.2_5'Flank|LIAS_ENST00000381846.1_5'Flank|LIAS_ENST00000513731.1_5'Flank|RPL9_ENST00000295955.9_Missense_Mutation_p.R89H	NM_001024921.2	NP_001020092.1	P32969	RL9_HUMAN	ribosomal protein L9	89					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribosome (GO:0005840)	RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)	p.R89H(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|skin(1)	8						CATCTTGTAACGGAAGCCCTA	0.328																																					p.R89H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G266A	4						.						38.0	40.0	39.0					4																	39458151		2203	4300	6503	39134546	SO:0001583	missense	6133	exon5			D14531	CCDS3452.1	4p13	2011-04-06			ENSG00000163682	ENSG00000163682		"""L ribosomal proteins"""	10369	protein-coding gene	gene with protein product		603686				8597601, 8415001	Standard	XM_005262661		Approved	L9	uc021sso.1	P32969	OTTHUMG00000099367	ENST00000449470.2:c.266G>A	4.37:g.39458151C>T	ENSP00000400467:p.Arg89His		39134546	NM_000661		Missense_Mutation	SNP	ENST00000449470.2	37	CCDS3452.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.386095	0.61956	.	.	ENSG00000163682	ENST00000295955;ENST00000449470;ENST00000394452;ENST00000503040;ENST00000504470	.	.	.	5.66	4.82	0.62117	Ribosomal protein L6, alpha-beta domain (2);	0.000000	0.85682	U	0.000000	T	0.58047	0.2095	L	0.55990	1.75	0.80722	D	1	B;B	0.14012	0.009;0.0	B;B	0.14578	0.011;0.001	T	0.56208	-0.8017	9	0.49607	T	0.09	.	13.6461	0.62281	0.0:0.9261:0.0:0.0739	.	89;89	B4DLV8;P32969	.;RL9_HUMAN	H	89	.	ENSP00000346022:R89H	R	-	2	0	RPL9	39134546	1.000000	0.71417	0.995000	0.50966	0.963000	0.63663	6.019000	0.70818	1.398000	0.46701	0.561000	0.74099	CGT		0.328	RPL9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361018.1		
PDS5A	23244	broad.mit.edu	37	4	39905808	39905808	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr4:39905808G>A	ENST00000303538.8	-	12	1776	c.1237C>T	c.(1237-1239)Cga>Tga	p.R413*	PDS5A_ENST00000503396.1_Nonsense_Mutation_p.R413*	NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)									p.R413*(1)		breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						TTTCTTACTCGCCACTAAAAA	0.388																																					p.R413X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1237T	4						.						33.0	29.0	30.0					4																	39905808		1827	4095	5922	39582203	SO:0001587	stop_gained	23244	exon12			AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.1237C>T	4.37:g.39905808G>A	ENSP00000303427:p.Arg413*		39582203	NM_001100399		Nonsense_Mutation	SNP	ENST00000303538.8	37	CCDS47045.1	.	.	.	.	.	.	.	.	.	.	G	41	8.615656	0.98886	.	.	ENSG00000121892	ENST00000303538;ENST00000503396	.	.	.	5.04	2.08	0.27032	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.5614	14.246	0.65988	0.0:0.0:0.6169:0.3831	.	.	.	.	X	413	.	.	R	-	1	2	PDS5A	39582203	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.842000	0.55858	0.584000	0.29591	0.655000	0.94253	CGA		0.388	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200	
APBB2	323	broad.mit.edu	37	4	40825662	40825662	+	Splice_Site	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr4:40825662T>C	ENST00000295974.8	-	16	2557	c.1928A>G	c.(1927-1929)aAg>aGg	p.K643R	APBB2_ENST00000513140.1_Splice_Site_p.K621R|APBB2_ENST00000506352.1_Splice_Site_p.K622R|APBB2_ENST00000508593.1_Splice_Site_p.K644R|APBB2_ENST00000504305.1_Splice_Site_p.K95R|RP11-632F7.3_ENST00000513127.1_RNA|APBB2_ENST00000543538.1_Splice_Site_p.K95R|APBB2_ENST00000502841.1_Splice_Site_p.K95R	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	643	PID 2. {ECO:0000255|PROSITE- ProRule:PRU00148}.				axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|extracellular matrix organization (GO:0030198)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|transcription factor binding (GO:0008134)	p.K621R(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						CCTTCTCACCTTTTCACTGAT	0.438																																					p.K643R	Ovarian(3;20 75 16686 49997)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1928G	4						.						107.0	107.0	107.0					4																	40825662		1998	4167	6165	40520419	SO:0001630	splice_region_variant	323	exon16			U62325	CCDS43224.1, CCDS54760.1, CCDS54761.1, CCDS54762.1	4p13	2011-10-10	2008-07-31		ENSG00000163697	ENSG00000163697			582	protein-coding gene	gene with protein product	"""Fe65-like"""	602710				8955346, 9585438	Standard	NM_173075		Approved	FE65L, FE65L1, MGC35575	uc003gvn.3	Q92870	OTTHUMG00000160416	ENST00000295974.8:c.1929+1A>G	4.37:g.40825662T>C			40520419	NM_001166050	B4DSL4|E9PG87|Q8IUI6	Missense_Mutation	SNP	ENST00000295974.8	37	CCDS54761.1	.	.	.	.	.	.	.	.	.	.	T	15.47	2.841885	0.51057	.	.	ENSG00000163697	ENST00000295974;ENST00000316212;ENST00000543538;ENST00000513140;ENST00000508593;ENST00000502841;ENST00000506352;ENST00000504305;ENST00000512510;ENST00000510670;ENST00000514920	T;T;T;T;T;T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01	5.85	4.65	0.58169	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.216882	0.48767	D	0.000173	T	0.18882	0.0453	L	0.60455	1.87	0.38514	D	0.948545	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.002;0.003	T	0.09250	-1.0683	10	0.28530	T	0.3	-23.1609	6.227	0.20714	0.0:0.1021:0.1592:0.7387	.	644;621;643	E9PG87;Q92870-2;Q92870	.;.;APBB2_HUMAN	R	643;642;95;621;644;95;622;95;157;95;95	ENSP00000295974:K643R;ENSP00000439357:K95R;ENSP00000426018:K621R;ENSP00000427211:K644R;ENSP00000425802:K95R;ENSP00000421539:K622R;ENSP00000423765:K95R;ENSP00000426429:K157R;ENSP00000427107:K95R;ENSP00000421751:K95R	ENSP00000295974:K643R	K	-	2	0	APBB2	40520419	1.000000	0.71417	0.970000	0.41538	0.847000	0.48162	3.296000	0.51802	1.018000	0.39521	0.533000	0.62120	AAG		0.438	APBB2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360523.3	NM_173075	Missense_Mutation
APBB2	323	broad.mit.edu	37	4	40946907	40946907	+	Missense_Mutation	SNP	G	G	A	rs374925325		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr4:40946907G>A	ENST00000295974.8	-	7	1645	c.1016C>T	c.(1015-1017)aCg>aTg	p.T339M	APBB2_ENST00000506352.1_Missense_Mutation_p.T339M|APBB2_ENST00000513140.1_Missense_Mutation_p.T339M|APBB2_ENST00000508593.1_Missense_Mutation_p.T340M	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	339					axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|extracellular matrix organization (GO:0030198)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|transcription factor binding (GO:0008134)	p.T339M(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						GGGAGATGGCGTTACAGAACT	0.478																																					p.T339M	Ovarian(3;20 75 16686 49997)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1016T	4						.	G	MET/THR,MET/THR,MET/THR	0,3922		0,0,1961	111.0	109.0	110.0		1016,1019,1016	5.2	1.0	4		110	1,8315		0,1,4157	no	missense,missense,missense	APBB2	NM_001166050.1,NM_004307.1,NM_173075.4	81,81,81	0,1,6118	AA,AG,GG		0.012,0.0,0.0082	probably-damaging,probably-damaging,probably-damaging	339/759,340/760,339/737	40946907	1,12237	1961	4158	6119	40641664	SO:0001583	missense	323	exon7			U62325	CCDS43224.1, CCDS54760.1, CCDS54761.1, CCDS54762.1	4p13	2011-10-10	2008-07-31		ENSG00000163697	ENSG00000163697			582	protein-coding gene	gene with protein product	"""Fe65-like"""	602710				8955346, 9585438	Standard	NM_173075		Approved	FE65L, FE65L1, MGC35575	uc003gvn.3	Q92870	OTTHUMG00000160416	ENST00000295974.8:c.1016C>T	4.37:g.40946907G>A	ENSP00000295974:p.Thr339Met		40641664	NM_001166050	B4DSL4|E9PG87|Q8IUI6	Missense_Mutation	SNP	ENST00000295974.8	37	CCDS54761.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.441877	0.63067	0.0	1.2E-4	ENSG00000163697	ENST00000295974;ENST00000316212;ENST00000513140;ENST00000508593;ENST00000506352	T;T;T;T	0.15603	2.48;2.41;2.49;2.41	6.02	5.18	0.71444	.	0.093706	0.64402	D	0.000001	T	0.28732	0.0712	N	0.24115	0.695	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	D;D;D;D	0.81914	0.995;0.935;0.97;0.935	T	0.06516	-1.0822	10	0.56958	D	0.05	-17.9586	15.254	0.73571	0.0668:0.0:0.9332:0.0	.	322;340;339;339	B4DJ88;E9PG87;Q92870-2;Q92870	.;.;.;APBB2_HUMAN	M	339;338;339;340;339	ENSP00000295974:T339M;ENSP00000426018:T339M;ENSP00000427211:T340M;ENSP00000421539:T339M	ENSP00000295974:T339M	T	-	2	0	APBB2	40641664	1.000000	0.71417	0.970000	0.41538	0.695000	0.40330	6.646000	0.74348	1.569000	0.49696	0.655000	0.94253	ACG		0.478	APBB2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360523.3	NM_173075	
GABRB1	2560	broad.mit.edu	37	4	47427833	47427833	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr4:47427833T>C	ENST00000295454.3	+	9	1515	c.1223T>C	c.(1222-1224)cTg>cCg	p.L408P	GABRB1_ENST00000538619.1_Missense_Mutation_p.L338P	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	408					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)	p.L408P(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CGCAAGCCCCTGAGCAGCCGC	0.667																																					p.L408P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1223C	4						.						37.0	44.0	42.0					4																	47427833		2203	4299	6502	47122590	SO:0001583	missense	2560	exon9				CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.1223T>C	4.37:g.47427833T>C	ENSP00000295454:p.Leu408Pro		47122590	NM_000812	B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	ENST00000295454.3	37	CCDS3474.1	.	.	.	.	.	.	.	.	.	.	T	1.906	-0.451854	0.04572	.	.	ENSG00000163288	ENST00000295454;ENST00000538619	D;D	0.83837	-1.77;-1.77	5.38	1.58	0.23477	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.802151	0.11254	N	0.583311	T	0.65059	0.2655	N	0.12182	0.205	0.24115	N	0.995826	B;B	0.06786	0.0;0.001	B;B	0.08055	0.003;0.003	T	0.50841	-0.8780	10	0.28530	T	0.3	-0.037	5.6656	0.17693	0.0:0.2246:0.145:0.6305	.	338;408	F5GXV5;P18505	.;GBRB1_HUMAN	P	408;338	ENSP00000295454:L408P;ENSP00000440330:L338P	ENSP00000295454:L408P	L	+	2	0	GABRB1	47122590	0.064000	0.20934	0.204000	0.23530	0.012000	0.07955	1.028000	0.30128	0.467000	0.27218	-0.297000	0.09499	CTG		0.667	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1		
FRYL	285527	broad.mit.edu	37	4	48529536	48529536	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr4:48529536delA	ENST00000503238.1	-	50	7274	c.7275delT	c.(7273-7275)tttfs	p.F2425fs	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000537810.1_Frame_Shift_Del_p.F2425fs|FRYL_ENST00000358350.4_Frame_Shift_Del_p.F2425fs			O94915	FRYL_HUMAN	FRY-like	2425					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)			p.F2425fs*7(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CAAAATCCTTAAAAACACCAA	0.353																																					p.F2425fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.7275delT	4						.						217.0	209.0	211.0					4																	48529536		1851	4101	5952	48224293	SO:0001589	frameshift_variant	285527	exon53			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.7275delT	4.37:g.48529536delA	ENSP00000426064:p.Phe2425fs		48224293	NM_015030	O95640|Q8WTZ5|Q9NT40	Frame_Shift_Del	DEL	ENST00000503238.1	37	CCDS43227.1																																																																																				0.353	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2		
USP46	64854	broad.mit.edu	37	4	53494204	53494204	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr4:53494204C>T	ENST00000441222.3	-	3	428	c.244G>A	c.(244-246)Gac>Aac	p.D82N	USP46_ENST00000451218.2_Missense_Mutation_p.D55N|USP46_ENST00000508499.1_Missense_Mutation_p.D75N	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46	82	USP.				adult feeding behavior (GO:0008343)|behavioral fear response (GO:0001662)|behavioral response to ethanol (GO:0048149)|protein deubiquitination (GO:0016579)|regulation of synaptic transmission, GABAergic (GO:0032228)|righting reflex (GO:0060013)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.D82N(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			TGGAAAAGGTCCGCCAGGCAC	0.493																																					p.D82N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G244A	4						.						104.0	99.0	101.0					4																	53494204		2009	4165	6174	53188961	SO:0001583	missense	64854	exon3			AK022614	CCDS47053.1, CCDS47054.1	4q12	2008-02-05	2005-08-08		ENSG00000109189	ENSG00000109189		"""Ubiquitin-specific peptidases"""	20075	protein-coding gene	gene with protein product		612849	"""ubiquitin specific protease 46"""			12838346	Standard	NM_022832		Approved	FLJ12552	uc003gzn.3	P62068	OTTHUMG00000160640	ENST00000441222.3:c.244G>A	4.37:g.53494204C>T	ENSP00000407818:p.Asp82Asn		53188961	NM_022832	B7Z3Y7|B7Z675|B7Z7S3|G8ACC7|Q80V95|Q9H7U4|Q9H9T8	Missense_Mutation	SNP	ENST00000441222.3	37	CCDS47053.1	.	.	.	.	.	.	.	.	.	.	C	35	5.572413	0.96553	.	.	ENSG00000109189	ENST00000441222;ENST00000451218;ENST00000508499	T;T;T	0.32515	1.45;1.45;1.45	5.25	5.25	0.73442	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.64402	D	0.000004	T	0.60881	0.2303	M	0.82823	2.61	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.992	D;D;P	0.97110	0.984;1.0;0.891	T	0.65290	-0.6204	10	0.62326	D	0.03	-27.1776	18.2056	0.89853	0.0:1.0:0.0:0.0	.	70;82;75	P62068-4;P62068;P62068-3	.;UBP46_HUMAN;.	N	82;55;75	ENSP00000407818:D82N;ENSP00000390102:D55N;ENSP00000423244:D75N	ENSP00000407818:D82N	D	-	1	0	USP46	53188961	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.672000	0.83956	2.618000	0.88619	0.655000	0.94253	GAC		0.493	USP46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361516.2	NM_022832	
KDR	3791	broad.mit.edu	37	4	55946246	55946246	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr4:55946246G>A	ENST00000263923.4	-	30	4228	c.3933C>T	c.(3931-3933)tcC>tcT	p.S1311S	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1311					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTGTGTCATCGGAGTGATATC	0.522			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																											p.S1311S			Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	.	.	0			c.C3933T	4						.						191.0	180.0	184.0					4																	55946246		2203	4300	6503	55641003	SO:0001819	synonymous_variant	3791	exon30			AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.3933C>T	4.37:g.55946246G>A			55641003	NM_002253	A2RRS0|B5A925|C5IFA0|O60723|Q14178	Silent	SNP	ENST00000263923.4	37	CCDS3497.1																																																																																				0.522	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1		
CEP135	9662	broad.mit.edu	37	4	56830504	56830504	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr4:56830504A>T	ENST00000257287.4	+	7	888	c.764A>T	c.(763-765)gAt>gTt	p.D255V		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	255					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)	p.D255V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					CGGTCCCCTGATGTCCTTTCT	0.353																																					p.D255V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A764T	4						.						139.0	137.0	138.0					4																	56830504		2203	4300	6503	56525261	SO:0001583	missense	9662	exon7			AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.764A>T	4.37:g.56830504A>T	ENSP00000257287:p.Asp255Val		56525261	NM_025009	B2RMY0|O75130|Q58F25|Q9H8H7	Missense_Mutation	SNP	ENST00000257287.4	37	CCDS33986.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.491018	0.84962	.	.	ENSG00000174799	ENST00000257287	T	0.51574	0.7	5.36	5.36	0.76844	.	0.095820	0.64402	D	0.000001	T	0.65217	0.2670	M	0.69823	2.125	0.80722	D	1	D	0.55800	0.973	P	0.61533	0.89	T	0.66799	-0.5832	10	0.48119	T	0.1	.	15.6604	0.77182	1.0:0.0:0.0:0.0	.	255	Q66GS9	CP135_HUMAN	V	255	ENSP00000257287:D255V	ENSP00000257287:D255V	D	+	2	0	CEP135	56525261	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.184000	0.89702	2.161000	0.67846	0.533000	0.62120	GAT		0.353	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009	
CENPC	1060	broad.mit.edu	37	4	68385111	68385111	+	Silent	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr4:68385111T>C	ENST00000273853.6	-	6	691	c.441A>G	c.(439-441)gaA>gaG	p.E147E		NM_001812.2	NP_001803.2	Q03188	CENPC_HUMAN	centromere protein C	147					chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	centromeric DNA binding (GO:0019237)|DNA binding (GO:0003677)	p.E147E(1)									CTTCATCAGCTTCACTGTGAT	0.343																																					p.E147E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A441G	4						.						98.0	89.0	92.0					4																	68385111		1825	4101	5926	68067706	SO:0001819	synonymous_variant	1060	exon6			M95724	CCDS47063.1	4q13.2	2013-11-05	2013-07-03	2013-07-03	ENSG00000145241	ENSG00000145241			1854	protein-coding gene	gene with protein product		117141	"""centromere protein C 1"""	CENPC1		7959789	Standard	XR_245245		Approved	CENP-C, hcp-4, MIF2	uc003hdd.1	Q03188	OTTHUMG00000160735	ENST00000273853.6:c.441A>G	4.37:g.68385111T>C			68067706	NM_001812	Q8IW27|Q9P0M5	Silent	SNP	ENST00000273853.6	37	CCDS47063.1																																																																																				0.343	CENPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362001.2		
AMBN	258	broad.mit.edu	37	4	71465293	71465293	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr4:71465293G>T	ENST00000322937.6	+	5	327	c.224G>T	c.(223-225)tGg>tTg	p.W75L	AMBN_ENST00000449493.2_Missense_Mutation_p.W75L	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	75					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|odontogenesis of dentin-containing tooth (GO:0042475)	proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|structural constituent of tooth enamel (GO:0030345)	p.W75L(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			AATTCTTTGTGGATGCACGGT	0.353																																					p.W75L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G224T	4						.						93.0	93.0	93.0					4																	71465293		2203	4300	6503	71499882	SO:0001583	missense	258	exon5			AF209780	CCDS3543.1	4q21	2006-11-28	2006-04-27		ENSG00000178522	ENSG00000178522			452	protein-coding gene	gene with protein product		601259	"""ameloblastin, enamel matrix protein"""			9126491	Standard	NM_016519		Approved		uc003hfl.3	Q9NP70	OTTHUMG00000129913	ENST00000322937.6:c.224G>T	4.37:g.71465293G>T	ENSP00000313809:p.Trp75Leu		71499882	NM_016519	Q3B862|Q9H2X1|Q9H4L1	Missense_Mutation	SNP	ENST00000322937.6	37	CCDS3543.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.760310	0.69763	.	.	ENSG00000178522	ENST00000322937;ENST00000538728;ENST00000449493	T;T	0.47528	0.84;0.84	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000006	T	0.68128	0.2967	M	0.71581	2.175	0.47123	D	0.999323	D	0.89917	1.0	D	0.87578	0.998	T	0.70457	-0.4866	10	0.87932	D	0	-5.2656	15.3732	0.74584	0.0:0.0:1.0:0.0	.	75	Q9NP70	AMBN_HUMAN	L	75	ENSP00000313809:W75L;ENSP00000391234:W75L	ENSP00000313809:W75L	W	+	2	0	AMBN	71499882	1.000000	0.71417	1.000000	0.80357	0.385000	0.30292	4.856000	0.62932	2.690000	0.91761	0.591000	0.81541	TGG		0.353	AMBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252165.1	NM_016519	
RASSF6	166824	broad.mit.edu	37	4	74459265	74459265	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr4:74459265A>G	ENST00000342081.3	-	4	416	c.286T>C	c.(286-288)Tgg>Cgg	p.W96R	RASSF6_ENST00000307439.5_Missense_Mutation_p.W64R|RASSF6_ENST00000335049.5_Missense_Mutation_p.W52R|RASSF6_ENST00000395777.2_Missense_Mutation_p.W64R	NM_201431.2	NP_958834.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6	96					apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)			p.W96R(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TTTACTCCCCAGAAAATGTCC	0.363																																					p.W64R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T190C	4						.						109.0	111.0	110.0					4																	74459265		2203	4300	6503	74678129	SO:0001583	missense	166824	exon4			AY217664	CCDS3558.1, CCDS3559.1, CCDS58904.1, CCDS58905.1	4q21.1	2008-02-22	2008-02-22		ENSG00000169435	ENSG00000169435			20796	protein-coding gene	gene with protein product		612620					Standard	NM_177532		Approved		uc003hhd.2	Q6ZTQ3	OTTHUMG00000130007	ENST00000342081.3:c.286T>C	4.37:g.74459265A>G	ENSP00000340578:p.Trp96Arg		74678129	NM_177532	Q68DT2|Q6PDA6|Q86WG9|Q86WH0	Missense_Mutation	SNP	ENST00000342081.3	37	CCDS3558.1	.	.	.	.	.	.	.	.	.	.	A	18.60	3.659694	0.67586	.	.	ENSG00000169435	ENST00000307439;ENST00000342081;ENST00000395777;ENST00000335049	T;T;T;T	0.61158	0.13;0.13;0.13;0.13	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.75722	0.3888	M	0.81112	2.525	0.53688	D	0.99997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.79288	-0.1865	10	0.87932	D	0	-6.7348	11.8484	0.52397	1.0:0.0:0.0:0.0	.	52;64;96	Q6ZTQ3-3;Q6ZTQ3-4;Q6ZTQ3	.;.;RASF6_HUMAN	R	64;96;64;52	ENSP00000303877:W64R;ENSP00000340578:W96R;ENSP00000379123:W64R;ENSP00000335582:W52R	ENSP00000303877:W64R	W	-	1	0	RASSF6	74678129	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.908000	0.69916	2.071000	0.62044	0.443000	0.29094	TGG		0.363	RASSF6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252279.1	NM_177532	
TMEM150C	441027	broad.mit.edu	37	4	83423903	83423903	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	A	A	A	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr4:83423903A>C	ENST00000515780.2	-	5	416	c.212T>G	c.(211-213)gTt>gGt	p.V71G	TMEM150C_ENST00000508701.1_Missense_Mutation_p.V71G|TMEM150C_ENST00000449862.2_Missense_Mutation_p.V71G			B9EJG8	T150C_HUMAN	transmembrane protein 150C	71						integral component of membrane (GO:0016021)				ovary(1)	1						CATGTTCATAACTTGACTAAA	0.358																																					p.V71G												.	.	0			c.T212G	4						.						66.0	62.0	63.0					4																	83423903		1880	4102	5982	83642927	SO:0001583	missense	441027	exon5			BC147027	CCDS47087.1	4q21.22	2010-06-25			ENSG00000249242	ENSG00000249242			37263	protein-coding gene	gene with protein product							Standard	NM_001080506		Approved	FLJ12993	uc003hmy.1	B9EJG8	OTTHUMG00000161083	ENST00000515780.2:c.212T>G	4.37:g.83423903A>C	ENSP00000420919:p.Val71Gly		83642927	NM_001080506	B7Z4J5|B7Z4L3|B7Z692|B7Z6X6	Missense_Mutation	SNP	ENST00000515780.2	37	CCDS47087.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.511918	0.85389	.	.	ENSG00000249242	ENST00000449862;ENST00000515780;ENST00000508701	T;T;T	0.42131	0.98;0.98;0.98	5.77	5.77	0.91146	.	.	.	.	.	T	0.60869	0.2302	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.995	T	0.57596	-0.7784	9	0.33940	T	0.23	-9.5387	16.0957	0.81123	1.0:0.0:0.0:0.0	.	71;71	B9EJG8-2;B9EJG8	.;T150C_HUMAN	G	71	ENSP00000403438:V71G;ENSP00000420919:V71G;ENSP00000421812:V71G	ENSP00000403438:V71G	V	-	2	0	TMEM150C	83642927	1.000000	0.71417	0.868000	0.34077	0.959000	0.62525	7.799000	0.85936	2.199000	0.70637	0.533000	0.62120	GTT		0.358	TMEM150C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363685.2	NM_001080506	
PKD2	5311	broad.mit.edu	37	4	88959470	88959470	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr4:88959470A>G	ENST00000237596.2	+	4	977	c.911A>G	c.(910-912)gAc>gGc	p.D304G		NM_000297.3	NP_000288.1	Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.D304G(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		ACTGAAGCTGACAACCGAAGT	0.478																																					p.D304G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A911G	4						.						84.0	87.0	86.0					4																	88959470		2203	4300	6503	89178494	SO:0001583	missense	5311	exon4			U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""EF-hand domain containing"""	9009	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 2"""	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000237596.2:c.911A>G	4.37:g.88959470A>G	ENSP00000237596:p.Asp304Gly		89178494	NM_000297	Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000237596.2	37	CCDS3627.1	.	.	.	.	.	.	.	.	.	.	A	12.48	1.951666	0.34471	.	.	ENSG00000118762	ENST00000237596	T	0.70399	-0.48	5.34	5.34	0.76211	Polycystin cation channel, PKD1/PKD2 (1);	0.099263	0.64402	D	0.000002	T	0.52789	0.1756	N	0.10837	0.055	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48399	-0.9039	10	0.30078	T	0.28	-21.0723	15.3465	0.74343	1.0:0.0:0.0:0.0	.	304	Q13563	PKD2_HUMAN	G	304	ENSP00000237596:D304G	ENSP00000237596:D304G	D	+	2	0	PKD2	89178494	1.000000	0.71417	1.000000	0.80357	0.677000	0.39632	6.038000	0.70964	2.029000	0.59856	0.459000	0.35465	GAC		0.478	PKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253042.4	NM_000297	
FAT1	2195	broad.mit.edu	37	4	187539970	187539970	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr4:187539970A>C	ENST00000441802.2	-	10	7979	c.7770T>G	c.(7768-7770)aaT>aaG	p.N2590K		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2590	Cadherin 23. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N2590K(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTGCATTGTCATTGTCATCTG	0.463										HNSCC(5;0.00058)																											p.N2590K	Colon(197;1040 2055 4143 4984 49344)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T7770G	4						.						57.0	55.0	56.0					4																	187539970		1989	4156	6145	187776964	SO:0001583	missense	2195	exon10			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.7770T>G	4.37:g.187539970A>C	ENSP00000406229:p.Asn2590Lys		187776964	NM_005245		Missense_Mutation	SNP	ENST00000441802.2	37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	A	13.35	2.211859	0.39102	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.70986	-0.53	5.07	1.26	0.21427	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.89315	0.6680	H	0.99464	4.58	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.88297	0.2947	10	0.87932	D	0	.	9.2729	0.37681	0.7922:0.0:0.2078:0.0	.	2590	Q14517	FAT1_HUMAN	K	2590;2592	ENSP00000406229:N2590K	ENSP00000260147:N2592K	N	-	3	2	FAT1	187776964	1.000000	0.71417	0.996000	0.52242	0.338000	0.28826	2.108000	0.41854	0.146000	0.19002	-0.376000	0.06991	AAT		0.463	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245	
FAM71B	153745	broad.mit.edu	37	5	156590316	156590317	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	-	-	-	T	-	-	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr5:156590316_156590317insT	ENST00000302938.4	-	2	1054_1055	c.959_960insA	c.(958-960)aatfs	p.N320fs		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	320						nucleus (GO:0005634)		p.N320fs*6(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTTCTCCTGGATTTTTGATAGC	0.535																																					p.N320fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.960_961insA	5						.																																			156522895	SO:0001589	frameshift_variant	153745	exon2				CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.960dupA	5.37:g.156590321_156590321dupT	ENSP00000305596:p.Asn320fs		156522894	NM_130899	Q1EDD9|Q8TC64|Q96LY8	Frame_Shift_Ins	INS	ENST00000302938.4	37	CCDS4335.1																																																																																				0.535	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899	
NKD2	85409	broad.mit.edu	37	5	1034386	1034386	+	Missense_Mutation	SNP	C	C	T	rs551438799	byFrequency	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr5:1034386C>T	ENST00000296849.5	+	6	596	c.367C>T	c.(367-369)Cgc>Tgc	p.R123C	NKD2_ENST00000382730.2_5'Flank|NKD2_ENST00000537972.1_Missense_Mutation_p.R123C|NKD2_ENST00000274150.4_Missense_Mutation_p.R123C	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	123	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.|Interaction with DVL1, DVL2 and DVL3. {ECO:0000250}.|Targeting to the basolateral cell membrane.				exocytosis (GO:0006887)|Golgi vesicle fusion to target membrane (GO:0048210)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein processing (GO:0010954)|protein targeting to plasma membrane (GO:0072661)|Wnt signaling pathway (GO:0016055)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cytoplasmic vesicle (GO:0031410)	calcium ion binding (GO:0005509)|growth factor binding (GO:0019838)|ubiquitin protein ligase binding (GO:0031625)	p.R123C(1)		breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			GGAGGACGACCGCCAGGAGTG	0.622													C|||	3	0.000599042	0.0	0.0	5008	,	,		18351	0.002		0.0	False		,,,				2504	0.001				p.R123C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C367T	5						.						111.0	86.0	94.0					5																	1034386		2203	4296	6499	1087386	SO:0001583	missense	85409	exon6			AF358137	CCDS3859.1, CCDS59486.1	5p15.3	2013-01-10			ENSG00000145506	ENSG00000145506		"""EF-hand domain containing"""	17046	protein-coding gene	gene with protein product	"""naked cuticle-2"", ""Dvl-binding protein NKD2"""	607852				11356022, 11604995	Standard	NM_033120		Approved	Naked2	uc003jbt.2	Q969F2	OTTHUMG00000090348	ENST00000296849.5:c.367C>T	5.37:g.1034386C>T	ENSP00000296849:p.Arg123Cys		1087386	NM_033120	Q96EK8|Q9BSN0	Missense_Mutation	SNP	ENST00000296849.5	37	CCDS3859.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.979754	0.34942	.	.	ENSG00000145506	ENST00000296849;ENST00000274150;ENST00000537972	T;T;T	0.00605	6.27;6.27;6.27	3.65	3.65	0.41850	EF-hand-like domain (1);	0.069845	0.56097	D	0.000037	T	0.02380	0.0073	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.76071	0.911;0.987	T	0.51702	-0.8672	10	0.87932	D	0	-17.3779	10.8415	0.46718	0.0:1.0:0.0:0.0	.	123;123	Q969F2-2;Q969F2	.;NKD2_HUMAN	C	123	ENSP00000296849:R123C;ENSP00000274150:R123C;ENSP00000440925:R123C	ENSP00000274150:R123C	R	+	1	0	NKD2	1087386	0.931000	0.31567	0.636000	0.29352	0.085000	0.17905	0.294000	0.19047	1.595000	0.50050	0.555000	0.69702	CGC		0.622	NKD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206720.2	NM_033120	
MARCH6	10299	broad.mit.edu	37	5	10430065	10430065	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr5:10430065T>A	ENST00000274140.5	+	25	2699	c.2567T>A	c.(2566-2568)gTc>gAc	p.V856D	MARCH6_ENST00000510792.1_Missense_Mutation_p.V554D|MARCH6_ENST00000503788.1_Missense_Mutation_p.V751D|MARCH6_ENST00000449913.2_Missense_Mutation_p.V808D	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	856					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V856D(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TTACTGATGGTCGTGGTATTG	0.388																																					p.V856D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2567A	5						.						167.0	149.0	155.0					5																	10430065		2203	4300	6503	10483065	SO:0001583	missense	10299	exon25			AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	30550	protein-coding gene	gene with protein product		613297	"""membrane-associated ring finger (C3HC4) 6"""			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.2567T>A	5.37:g.10430065T>A	ENSP00000274140:p.Val856Asp		10483065	NM_005885	A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	ENST00000274140.5	37	CCDS34135.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.028783	0.75504	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140;ENST00000510792	T;T;T;T	0.49720	1.78;0.77;1.78;0.78	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.56601	0.1996	M	0.65498	2.005	0.80722	D	1	P;P;P;B	0.44195	0.828;0.472;0.731;0.412	B;B;P;B	0.47528	0.431;0.244;0.549;0.188	T	0.60301	-0.7290	10	0.56958	D	0.05	-24.0117	15.9584	0.79906	0.0:0.0:0.0:1.0	.	751;808;436;856	B4DKJ2;B4DT33;B2RBJ1;O60337	.;.;.;MARH6_HUMAN	D	808;751;856;554	ENSP00000414643:V808D;ENSP00000425930:V751D;ENSP00000274140:V856D;ENSP00000424512:V554D	ENSP00000274140:V856D	V	+	2	0	MARCH6	10483065	1.000000	0.71417	0.923000	0.36655	0.970000	0.65996	5.910000	0.69931	2.165000	0.68154	0.529000	0.55759	GTC		0.388	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885	
MCC	4163	broad.mit.edu	37	5	112437519	112437519	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr5:112437519G>A	ENST00000302475.4	-	6	1308	c.745C>T	c.(745-747)Ctg>Ttg	p.L249L	MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Silent_p.L439L|MCC_ENST00000515367.2_Silent_p.L186L	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	249					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.L249L(1)|p.L439L(1)		endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TTGCTGCACAGCATGGCAGTC	0.607																																					p.L439L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1315T	5						.						136.0	130.0	132.0					5																	112437519		2202	4300	6502	112465418	SO:0001819	synonymous_variant	4163	exon8				CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.745C>T	5.37:g.112437519G>A			112465418	NM_001085377	D3DT05|Q6ZR04	Silent	SNP	ENST00000302475.4	37	CCDS4111.1																																																																																				0.607	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377	
FAM170A	340069	broad.mit.edu	37	5	118969754	118969754	+	Missense_Mutation	SNP	T	T	C	rs377460947|rs551506185	byFrequency	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr5:118969754T>C	ENST00000515256.1	+	3	483	c.311T>C	c.(310-312)tTg>tCg	p.L104S				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	104					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L104S(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						CATGTCTCCTTGTCGTCCTAT	0.483																																					p.L104S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T311C	5						.	T	SER/LEU,SER/LEU	0,3884		0,0,1942	108.0	112.0	111.0		170,311	2.0	0.0	5		111	2,8268		0,2,4133	no	missense,missense	FAM170A	NM_001163991.1,NM_182761.3	145,145	0,2,6075	CC,CT,TT		0.0242,0.0,0.0165	benign,benign	57/283,104/330	118969754	2,12152	1942	4135	6077	118997653	SO:0001583	missense	340069	exon3			AF427126	CCDS43353.1, CCDS54889.1	5q23.1	2008-06-12			ENSG00000164334	ENSG00000164334			27963	protein-coding gene	gene with protein product						12477932	Standard	NM_182761		Approved		uc003ksn.3	A1A519	OTTHUMG00000162946	ENST00000515256.1:c.311T>C	5.37:g.118969754T>C	ENSP00000422684:p.Leu104Ser		118997653	NM_182761	Q66LM8|Q7Z4V2|Q8IW94	Missense_Mutation	SNP	ENST00000515256.1	37		.	.	.	.	.	.	.	.	.	.	T	3.761	-0.049697	0.07407	0.0	2.42E-4	ENSG00000164334	ENST00000296787;ENST00000515256;ENST00000509264	T;T	0.32272	1.46;1.46	3.19	1.98	0.26296	.	0.913912	0.09140	N	0.843118	T	0.17280	0.0415	N	0.22421	0.69	0.09310	N	1	B;B;P	0.40476	0.144;0.403;0.718	B;B;B	0.35470	0.07;0.147;0.203	T	0.12863	-1.0531	9	.	.	.	-0.4916	5.6434	0.17577	0.2415:0.0:0.0:0.7585	.	57;104;104	D6RIE9;A1A519;A2VCN0	.;F170A_HUMAN;.	S	57;104;104	ENSP00000422684:L104S;ENSP00000423697:L104S	.	L	+	2	0	FAM170A	118997653	0.006000	0.16342	0.003000	0.11579	0.010000	0.07245	0.522000	0.22909	0.585000	0.29608	0.533000	0.62120	TTG		0.483	FAM170A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371126.1	NM_182761	
FTMT	94033	broad.mit.edu	37	5	121188111	121188111	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr5:121188111C>T	ENST00000321339.1	+	1	462	c.453C>T	c.(451-453)gaC>gaT	p.D151D		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	151	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)	p.D151D(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CGGAACAGGACGACTGGGAAA	0.582																																					p.D151D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C453T	5						.						89.0	88.0	88.0					5																	121188111		2203	4300	6503	121216010	SO:0001819	synonymous_variant	94033	exon1			BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.453C>T	5.37:g.121188111C>T			121216010	NM_177478		Silent	SNP	ENST00000321339.1	37	CCDS4128.1																																																																																				0.582	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	NM_177478	
SNX2	6643	broad.mit.edu	37	5	122135524	122135524	+	Missense_Mutation	SNP	G	G	A	rs138514194		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr5:122135524G>A	ENST00000379516.2	+	3	472	c.364G>A	c.(364-366)Gtg>Atg	p.V122M	SNX2_ENST00000510372.1_3'UTR|SNX2_ENST00000514949.1_Missense_Mutation_p.V5M	NM_003100.2	NP_003091.2	O60749	SNX2_HUMAN	sorting nexin 2	122					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)|retromer complex (GO:0030904)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)	p.V122M(1)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1)	19		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)		GTCTGCTCCCGTGATCTTTGA	0.413																																					p.V122M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G364A	5						.	G	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	125.0	120.0	122.0		364	5.3	1.0	5	dbSNP_134	122	1,8599	1.2+/-3.3	0,1,4299	no	missense	SNX2	NM_003100.2	21	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	122/520	122135524	2,13004	2203	4300	6503	122163423	SO:0001583	missense	6643	exon3			AF043453	CCDS34217.1, CCDS64234.1	5q23.2	2011-05-03			ENSG00000205302	ENSG00000205302		"""Sorting nexins"""	11173	protein-coding gene	gene with protein product		605929				9819414	Standard	NM_003100		Approved		uc003kte.4	O60749	OTTHUMG00000163020	ENST00000379516.2:c.364G>A	5.37:g.122135524G>A	ENSP00000368831:p.Val122Met		122163423	NM_003100	B3KN44|B4DEK4|B7Z408|O43650|P82862|Q53XK8|Q597H6|Q9BTS8	Missense_Mutation	SNP	ENST00000379516.2	37	CCDS34217.1	.	.	.	.	.	.	.	.	.	.	G	18.44	3.623781	0.66901	2.27E-4	1.16E-4	ENSG00000205302	ENST00000379516;ENST00000505934;ENST00000514949	T;T;T	0.37411	2.06;1.2;1.77	5.35	5.35	0.76521	.	0.208459	0.41823	D	0.000815	T	0.42675	0.1213	L	0.36672	1.1	0.33634	D	0.60642	P	0.47034	0.889	P	0.50109	0.631	T	0.52335	-0.8589	10	0.46703	T	0.11	-17.0144	19.0659	0.93110	0.0:0.0:1.0:0.0	.	122	O60749	SNX2_HUMAN	M	122;121;5	ENSP00000368831:V122M;ENSP00000422413:V121M;ENSP00000421663:V5M	ENSP00000368831:V122M	V	+	1	0	SNX2	122163423	1.000000	0.71417	0.982000	0.44146	0.966000	0.64601	4.204000	0.58460	2.522000	0.85027	0.650000	0.86243	GTG		0.413	SNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371392.1	NM_003100	
MARCH3	115123	broad.mit.edu	37	5	126213943	126213943	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr5:126213943C>T	ENST00000308660.5	-	4	1051	c.537G>A	c.(535-537)cgG>cgA	p.R179R		NM_178450.3	NP_848545.1	Q86UD3	MARH3_HUMAN	membrane-associated ring finger (C3HC4) 3, E3 ubiquitin protein ligase	179					endocytosis (GO:0006897)|protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.R179R(1)		large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793)		CGGCTTCCAGCCGACTACTAA	0.562																																					p.R179R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G537A	5						.						68.0	63.0	65.0					5																	126213943		2203	4300	6503	126241842	SO:0001819	synonymous_variant	115123	exon4			AF055007	CCDS4141.1	5q23.2	2013-01-09	2012-02-23		ENSG00000173926	ENSG00000173926		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	28728	protein-coding gene	gene with protein product		613333	"""membrane-associated ring finger (C3HC4) 3"""			14722266, 8619474	Standard	NM_178450		Approved	MGC48332, MARCH-III, RNF173	uc003kuf.4	Q86UD3	OTTHUMG00000128968	ENST00000308660.5:c.537G>A	5.37:g.126213943C>T			126241842	NM_178450	A8K264|B9EJE7	Silent	SNP	ENST00000308660.5	37	CCDS4141.1																																																																																				0.562	MARCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250955.2	NM_178450	
CDC23	8697	broad.mit.edu	37	5	137524714	137524714	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr5:137524714G>T	ENST00000394886.2	-	16	1777	c.1747C>A	c.(1747-1749)Ccc>Acc	p.P583T		NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	583					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|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 exit from mitosis (GO:0007096)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)	p.P577T(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CTGCGTGTGGGGGTATTGTTA	0.507																																					p.P583T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1747A	5						.						169.0	156.0	160.0					5																	137524714		2203	4300	6503	137552613	SO:0001583	missense	8697	exon16			AF053977	CCDS4200.2	5q31	2013-01-17	2013-01-17		ENSG00000094880	ENSG00000094880		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1724	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 8"""	603462	"""CDC23 (cell division cycle 23, yeast, homolog)"", ""cell division cycle 23 homolog (S. cerevisiae)"""			9790767	Standard	NM_004661		Approved	APC8, ANAPC8, CUT23	uc003lcl.3	Q9UJX2	OTTHUMG00000129198	ENST00000394886.2:c.1747C>A	5.37:g.137524714G>T	ENSP00000378350:p.Pro583Thr		137552613	NM_004661	A8K6E5|B4E3A2|B7WP05|D3DQB7|O75433|Q53FN2|Q9BS73	Missense_Mutation	SNP	ENST00000394886.2	37	CCDS4200.2	.	.	.	.	.	.	.	.	.	.	G	17.05	3.289983	0.59976	.	.	ENSG00000094880	ENST00000394886	T	0.59364	0.27	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.47563	0.1452	L	0.38531	1.155	0.80722	D	1	B	0.26744	0.158	B	0.14578	0.011	T	0.38045	-0.9679	10	0.16420	T	0.52	-12.1422	19.1135	0.93328	0.0:0.0:1.0:0.0	.	583	Q9UJX2	CDC23_HUMAN	T	583	ENSP00000378350:P583T	ENSP00000378350:P583T	P	-	1	0	CDC23	137552613	1.000000	0.71417	0.996000	0.52242	0.965000	0.64279	7.185000	0.77714	2.757000	0.94681	0.462000	0.41574	CCC		0.507	CDC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251275.2		
FAM53C	51307	broad.mit.edu	37	5	137682516	137682516	+	Silent	SNP	C	C	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr5:137682516C>A	ENST00000239906.5	+	5	1475	c.1047C>A	c.(1045-1047)tcC>tcA	p.S349S	RP11-256P1.1_ENST00000504539.1_RNA|FAM53C_ENST00000434981.2_Silent_p.S349S|FAM53C_ENST00000513056.1_3'UTR	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	349								p.S349S(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CTGGGGGTTCCTCCCAGGTGC	0.652																																					p.S349S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1047A	5						.						31.0	36.0	35.0					5																	137682516		2203	4300	6503	137710415	SO:0001819	synonymous_variant	51307	exon5			AF251040	CCDS4204.1	5q31	2008-02-05	2004-11-24	2004-11-26	ENSG00000120709	ENSG00000120709			1336	protein-coding gene	gene with protein product		609372	"""chromosome 5 open reading frame 6"""	C5orf6		11087669, 11161817	Standard	NM_001135647		Approved		uc003lcv.3	Q9NYF3	OTTHUMG00000129201	ENST00000239906.5:c.1047C>A	5.37:g.137682516C>A			137710415	NM_001135647	B2RDJ5|D3DQB9	Silent	SNP	ENST00000239906.5	37	CCDS4204.1																																																																																				0.652	FAM53C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251278.2	NM_016605	
PCDHA1	56147	broad.mit.edu	37	5	140166017	140166017	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr5:140166017G>A	ENST00000504120.2	+	1	142	c.142G>A	c.(142-144)Gtt>Att	p.V48I	PCDHA1_ENST00000378133.3_Missense_Mutation_p.V48I|PCDHA1_ENST00000394633.3_Missense_Mutation_p.V48I	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	48	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V48I(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTTGGCCGCGTTGCTCAGGA	0.627																																					p.V48I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G142A	5						.						51.0	57.0	55.0					5																	140166017		2203	4300	6503	140146201	SO:0001583	missense	56147	exon1			AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.142G>A	5.37:g.140166017G>A	ENSP00000420840:p.Val48Ile		140146201	NM_031410	O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	N	0.121	-1.126032	0.01770	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.24538	1.85;1.85;1.85	4.53	2.0	0.26442	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.000000	0.43747	N	0.000523	T	0.04318	0.0119	N	0.00151	-1.98	0.22571	N	0.99897	B;B;B	0.19073	0.004;0.033;0.007	B;B;B	0.25759	0.003;0.063;0.002	T	0.43861	-0.9365	10	0.02654	T	1	.	7.1135	0.25403	0.623:0.2973:0.0796:0.0	.	48;48;48	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	I	48	ENSP00000420840:V48I;ENSP00000378129:V48I;ENSP00000367373:V48I	ENSP00000367373:V48I	V	+	1	0	PCDHA1	140146201	0.011000	0.17503	1.000000	0.80357	0.540000	0.34992	0.440000	0.21592	0.206000	0.20587	-0.247000	0.11927	GTT		0.627	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900	
PCDHA2	56146	broad.mit.edu	37	5	140176746	140176746	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr5:140176746G>A	ENST00000526136.1	+	1	2197	c.2197G>A	c.(2197-2199)Gcg>Acg	p.A733T	PCDHA2_ENST00000520672.2_Missense_Mutation_p.A733T|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A733T|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	733					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A733T(2)|p.A733S(2)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGTGCGCGCGCGCCAGGAAA	0.682																																					p.A733T												.	.	4	Substitution - Missense(4)	large_intestine(2)|lung(2)	c.G2197A	5						.						48.0	50.0	50.0					5																	140176746		2203	4299	6502	140156930	SO:0001583	missense	56146	exon1			AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.2197G>A	5.37:g.140176746G>A	ENSP00000431748:p.Ala733Thr		140156930	NM_018905	O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	g	6.553	0.470310	0.12461	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.77620	-1.11;-1.11;-1.11	4.0	2.17	0.27698	.	0.702690	0.11252	U	0.583549	T	0.64249	0.2581	L	0.39245	1.2	0.09310	N	1	B;B;B	0.27286	0.084;0.007;0.174	B;B;B	0.19148	0.024;0.004;0.015	T	0.46162	-0.9211	10	0.21014	T	0.42	.	6.573	0.22549	0.2332:0.0:0.7668:0.0	.	733;733;733	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	T	733	ENSP00000430584:A733T;ENSP00000367372:A733T;ENSP00000431748:A733T	ENSP00000367372:A733T	A	+	1	0	PCDHA2	140156930	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.104000	0.15313	0.281000	0.22233	0.585000	0.79938	GCG		0.682	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905	
PCDHA9	9752	broad.mit.edu	37	5	140229167	140229167	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr5:140229167G>A	ENST00000532602.1	+	1	2120	c.1087G>A	c.(1087-1089)Gca>Aca	p.A363T	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.A363T|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	363	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)	p.A363T(2)		breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAAGAGGACGCACAACTGGG	0.512																																					p.A363T	Melanoma(55;1800 1972 14909)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1087A	5						.						129.0	118.0	121.0					5																	140229167		2196	4271	6467	140209351	SO:0001583	missense	9752	exon1			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1087G>A	5.37:g.140229167G>A	ENSP00000436042:p.Ala363Thr		140209351	NM_014005	O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.759997	0.49468	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.55413	0.52;0.52	3.79	0.703	0.18116	Cadherin (3);Cadherin-like (1);	0.295611	0.17120	U	0.186269	T	0.38931	0.1059	L	0.41961	1.31	0.09310	N	1	P;D	0.53619	0.903;0.961	B;B	0.42692	0.365;0.395	T	0.26395	-1.0104	10	0.48119	T	0.1	.	4.3353	0.11083	0.2839:0.0:0.4512:0.2649	.	363;363	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	T	363	ENSP00000436042:A363T;ENSP00000367362:A363T	ENSP00000367362:A363T	A	+	1	0	PCDHA9	140209351	0.030000	0.19436	0.023000	0.16930	0.045000	0.14185	0.465000	0.22004	0.368000	0.24481	0.313000	0.20887	GCA		0.512	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857	
PCDHA13	56136	broad.mit.edu	37	5	140263208	140263208	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr5:140263208C>T	ENST00000289272.2	+	1	1355	c.1355C>T	c.(1354-1356)gCg>gTg	p.A452V	PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.A452V|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	452	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)	p.A452V(1)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACGACAACGCGCCGGCGTTC	0.672																																					p.A452V	Melanoma(147;1739 1852 5500 27947 37288)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1355T	5						.						70.0	73.0	72.0					5																	140263208		2203	4299	6502	140243392	SO:0001583	missense	56136	exon1			AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1355C>T	5.37:g.140263208C>T	ENSP00000289272:p.Ala452Val		140243392	NM_031865	O75277	Missense_Mutation	SNP	ENST00000289272.2	37	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.871941	0.51695	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.61859	0.07;0.07	5.15	4.27	0.50696	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.58352	0.2116	M	0.64260	1.97	0.24705	N	0.993232	P;P;P	0.46621	0.466;0.466;0.881	B;B;B	0.42798	0.224;0.152;0.398	T	0.53472	-0.8434	9	0.54805	T	0.06	.	13.7116	0.62672	0.0:0.9232:0.0:0.0768	.	452;452;452	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	V	452	ENSP00000386821:A452V;ENSP00000289272:A452V	ENSP00000289272:A452V	A	+	2	0	PCDHA13	140243392	0.000000	0.05858	1.000000	0.80357	0.980000	0.70556	0.492000	0.22435	1.128000	0.42052	0.556000	0.70494	GCG		0.672	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904	
PCDHB2	56133	broad.mit.edu	37	5	140476673	140476673	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr5:140476673A>G	ENST00000194155.4	+	1	2447	c.2299A>G	c.(2299-2301)Aag>Gag	p.K767E		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	767					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.K767E(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAATGAGTTCAAGTTCCTGAA	0.537																																					p.K767E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2299G	5						.						65.0	66.0	65.0					5																	140476673		2200	4280	6480	140456857	SO:0001583	missense	56133	exon1			AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.2299A>G	5.37:g.140476673A>G	ENSP00000194155:p.Lys767Glu		140456857	NM_018936	Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	A	19.89	3.910798	0.72983	.	.	ENSG00000112852	ENST00000194155	T	0.15718	2.4	4.58	4.58	0.56647	.	.	.	.	.	T	0.38161	0.1030	H	0.96048	3.76	0.32382	N	0.554381	P	0.39964	0.697	B	0.42959	0.403	T	0.60627	-0.7226	9	0.48119	T	0.1	.	10.9466	0.47304	0.8434:0.1565:0.0:0.0	.	767	Q9Y5E7	PCDB2_HUMAN	E	767	ENSP00000194155:K767E	ENSP00000194155:K767E	K	+	1	0	PCDHB2	140456857	0.000000	0.05858	0.998000	0.56505	0.697000	0.40408	0.939000	0.28978	1.816000	0.52996	0.529000	0.55759	AAG		0.537	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936	
PCDHB3	56132	broad.mit.edu	37	5	140481754	140481754	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr5:140481754C>T	ENST00000231130.2	+	1	1521	c.1521C>T	c.(1519-1521)aaC>aaT	p.N507N	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	507	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.N507N(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTCCATCAACGCGGACAACG	0.672																																					p.N507N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1521T	5						.						58.0	61.0	60.0					5																	140481754		2200	4296	6496	140461938	SO:0001819	synonymous_variant	56132	exon1			AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1521C>T	5.37:g.140481754C>T			140461938	NM_018937	B2R8P2	Silent	SNP	ENST00000231130.2	37	CCDS4245.1																																																																																				0.672	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937	
PCDHB6	56130	broad.mit.edu	37	5	140530440	140530440	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr5:140530440G>A	ENST00000231136.1	+	1	602	c.602G>A	c.(601-603)cGc>cAc	p.R201H	PCDHB6_ENST00000543635.1_Missense_Mutation_p.R65H	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	201	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.R201H(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGTTGGACCGCGAGGAGCAG	0.602																																					p.R201H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G602A	5						.						66.0	70.0	69.0					5																	140530440		2203	4300	6503	140510624	SO:0001583	missense	56130	exon1			AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.602G>A	5.37:g.140530440G>A	ENSP00000231136:p.Arg201His		140510624	NM_018939	B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.755233	0.69648	.	.	ENSG00000113211	ENST00000543635;ENST00000231136	T;T	0.60040	0.22;0.22	4.7	3.83	0.44106	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.72358	0.3450	M	0.93594	3.435	0.36788	D	0.88468	P	0.45672	0.864	P	0.47102	0.537	T	0.83134	-0.0112	9	0.66056	D	0.02	.	13.0766	0.59091	0.079:0.0:0.921:0.0	.	201	Q9Y5E3	PCDB6_HUMAN	H	65;201	ENSP00000438466:R65H;ENSP00000231136:R201H	ENSP00000231136:R201H	R	+	2	0	PCDHB6	140510624	0.993000	0.37304	0.593000	0.28771	0.575000	0.36095	6.689000	0.74562	1.101000	0.41535	0.561000	0.74099	CGC		0.602	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939	
PCDHGA3	56112	broad.mit.edu	37	5	140723917	140723917	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr5:140723917T>A	ENST00000253812.6	+	1	317	c.317T>A	c.(316-318)aTt>aAt	p.I106N	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	106	Cadherin 1. {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.I106N(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTAAAAATTAACATTCTG	0.418																																					p.I106N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T317A	5						.						30.0	34.0	32.0					5																	140723917		2020	4225	6245	140704101	SO:0001583	missense	56112	exon1			AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.317T>A	5.37:g.140723917T>A	ENSP00000253812:p.Ile106Asn		140704101	NM_018916	Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	10.18	1.278869	0.23307	.	.	ENSG00000254245	ENST00000253812	T	0.43294	0.95	5.65	5.65	0.86999	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.872506	0.09184	U	0.836973	T	0.45155	0.1328	L	0.58810	1.83	0.28620	N	0.908221	B;B	0.20261	0.035;0.043	B;B	0.22386	0.038;0.039	T	0.41378	-0.9512	10	0.72032	D	0.01	.	12.5784	0.56378	0.0:0.0:0.1383:0.8617	.	106;106	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	N	106	ENSP00000253812:I106N	ENSP00000253812:I106N	I	+	2	0	PCDHGA3	140704101	0.003000	0.15002	0.876000	0.34364	0.300000	0.27592	0.847000	0.27696	2.279000	0.76181	0.533000	0.62120	ATT		0.418	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916	
FBXO38	81545	broad.mit.edu	37	5	147817958	147817958	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr5:147817958A>C	ENST00000340253.5	+	18	3089	c.2921A>C	c.(2920-2922)gAc>gCc	p.D974A	FBXO38_ENST00000394370.3_Missense_Mutation_p.D899A|FBXO38_ENST00000296701.6_Missense_Mutation_p.D729A|FBXO38_ENST00000513826.1_Missense_Mutation_p.D729A			Q6PIJ6	FBX38_HUMAN	F-box protein 38	974					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.D974A(1)	ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACCGATTTGACTATGCACAG	0.418																																					p.D974A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2921C	5						.						147.0	131.0	137.0					5																	147817958		2203	4300	6503	147798151	SO:0001583	missense	81545	exon18			BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"""F-boxes /  ""other"""""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.2921A>C	5.37:g.147817958A>C	ENSP00000342023:p.Asp974Ala		147798151	NM_205836	Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Missense_Mutation	SNP	ENST00000340253.5	37		.	.	.	.	.	.	.	.	.	.	A	25.4	4.634605	0.87660	.	.	ENSG00000145868	ENST00000340253;ENST00000296701;ENST00000394370;ENST00000513826	T;T;T;T	0.35605	1.3;1.36;1.34;1.36	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.50000	0.1590	L	0.32530	0.975	0.40297	D	0.978562	D;D;D	0.89917	0.996;0.996;1.0	D;D;D	0.87578	0.991;0.933;0.998	T	0.50931	-0.8769	10	0.54805	T	0.06	-21.5595	15.3992	0.74823	1.0:0.0:0.0:0.0	.	729;899;974	Q6PIJ6-3;Q6PIJ6-2;Q6PIJ6	.;.;FBX38_HUMAN	A	974;729;899;729	ENSP00000342023:D974A;ENSP00000296701:D729A;ENSP00000377895:D899A;ENSP00000426410:D729A	ENSP00000296701:D729A	D	+	2	0	FBXO38	147798151	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.705000	0.91357	2.371000	0.80710	0.533000	0.62120	GAC		0.418	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793	
RBM22	55696	broad.mit.edu	37	5	150075212	150075212	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr5:150075212C>T	ENST00000199814.4	-	7	723	c.602G>A	c.(601-603)cGt>cAt	p.R201H	RBM22_ENST00000540000.1_Missense_Mutation_p.R152H|RBM22_ENST00000447771.2_Missense_Mutation_p.R152H	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22	201					cellular response to drug (GO:0035690)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of RNA splicing (GO:0033120)|protein import into nucleus, translocation (GO:0000060)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium-dependent protein binding (GO:0048306)|metal ion binding (GO:0046872)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|snRNA binding (GO:0017069)	p.R201H(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCGTAATAACGGTCTTTAAT	0.433																																					p.R201H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G602A	5						.						95.0	90.0	91.0					5																	150075212		2203	4300	6503	150055405	SO:0001583	missense	55696	exon7			AL136933	CCDS34278.1	5q33.1	2013-02-12			ENSG00000086589	ENSG00000086589		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	25503	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 47"""	612430				20013661, 19133299	Standard	NM_018047		Approved	FLJ10290, ZC3H16, fSAP47, Cwc2	uc031slu.1	Q9NW64	OTTHUMG00000163589	ENST00000199814.4:c.602G>A	5.37:g.150075212C>T	ENSP00000199814:p.Arg201His		150055405	NM_018047	A6NDM5|B4DLI9|O95607	Missense_Mutation	SNP	ENST00000199814.4	37	CCDS34278.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.460270	0.63401	.	.	ENSG00000086589	ENST00000199814;ENST00000540000;ENST00000447771	T;T;T	0.06528	3.29;3.29;3.29	5.61	4.75	0.60458	.	0.115109	0.64402	D	0.000010	T	0.31544	0.0800	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.32693	-0.9897	10	0.72032	D	0.01	-1.7723	14.5396	0.67984	0.0:0.9294:0.0:0.0706	.	201	Q9NW64	RBM22_HUMAN	H	201;152;152	ENSP00000199814:R201H;ENSP00000441594:R152H;ENSP00000412118:R152H	ENSP00000199814:R201H	R	-	2	0	RBM22	150055405	1.000000	0.71417	0.990000	0.47175	0.013000	0.08279	7.729000	0.84864	1.374000	0.46228	-0.140000	0.14226	CGT		0.433	RBM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374431.2	NM_018047	
DCTN4	51164	broad.mit.edu	37	5	150110201	150110201	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr5:150110201G>A	ENST00000447998.2	-	8	941	c.826C>T	c.(826-828)Cgc>Tgc	p.R276C	DCTN4_ENST00000424236.1_Missense_Mutation_p.R219C|DCTN4_ENST00000446090.2_Missense_Mutation_p.R283C|DCTN4_ENST00000521093.1_5'Flank	NM_016221.3	NP_057305.1	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62)	276					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)	p.R276C(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACACGGCAGCGCAGGGACCGT	0.463																																					p.R219C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C655T	5						.						225.0	230.0	228.0					5																	150110201		2203	4300	6503	150090394	SO:0001583	missense	51164	exon8			AF195120	CCDS4310.1, CCDS47310.1, CCDS47311.1	5q31-q32	2008-05-23			ENSG00000132912	ENSG00000132912			15518	protein-coding gene	gene with protein product		614758				10843801, 16554302	Standard	NM_016221		Approved		uc010jhi.3	Q9UJW0	OTTHUMG00000130079	ENST00000447998.2:c.826C>T	5.37:g.150110201G>A	ENSP00000416968:p.Arg276Cys		150090394	NM_001135644	B3KWW0|D3DQH0|E5RGT5|Q8TAN8	Missense_Mutation	SNP	ENST00000447998.2	37	CCDS4310.1	.	.	.	.	.	.	.	.	.	.	G	35	5.426927	0.96131	.	.	ENSG00000132912	ENST00000447998;ENST00000424236;ENST00000446090	T;T;T	0.55052	0.54;0.54;0.54	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.77857	0.4193	M	0.87900	2.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.81475	-0.0916	10	0.87932	D	0	-10.5543	19.4737	0.94976	0.0:0.0:1.0:0.0	.	283;276	Q9UJW0-3;Q9UJW0	.;DCTN4_HUMAN	C	276;219;283	ENSP00000416968:R276C;ENSP00000411251:R219C;ENSP00000414906:R283C	ENSP00000411251:R219C	R	-	1	0	DCTN4	150090394	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	9.640000	0.98453	2.676000	0.91093	0.561000	0.74099	CGC		0.463	DCTN4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252372.1		
FAT2	2196	broad.mit.edu	37	5	150885482	150885482	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr5:150885482T>A	ENST00000261800.5	-	23	12706	c.12694A>T	c.(12694-12696)Atg>Ttg	p.M4232L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4232					epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.M4232L(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTGTTTTCCATCTCCAGGGGG	0.647																																					p.M4232L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A12694T	5						.						98.0	115.0	109.0					5																	150885482		2202	4300	6502	150865675	SO:0001583	missense	2196	exon23			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.12694A>T	5.37:g.150885482T>A	ENSP00000261800:p.Met4232Leu		150865675	NM_001447	O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	CCDS4317.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.491|9.491	1.100716|1.100716	0.20552|0.20552	.|.	.|.	ENSG00000086570|ENSG00000086570	ENST00000520200|ENST00000261800	.|T	.|0.69175	.|-0.38	5.02|5.02	-4.71|-4.71	0.03279|0.03279	.|.	.|0.889216	.|0.09516	.|N	.|0.791667	T|T	0.25457|0.25457	0.0619|0.0619	N|N	0.00926|0.00926	-1.1|-1.1	0.09310|0.09310	N|N	0.999995|0.999995	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.21793|0.21793	-1.0235|-1.0235	5|10	.|0.14656	.|T	.|0.56	.|.	2.5629|2.5629	0.04776|0.04776	0.1195:0.1827:0.312:0.3859|0.1195:0.1827:0.312:0.3859	.|.	.|4232;1337	.|Q9NYQ8;E9PDJ8	.|FAT2_HUMAN;.	V|L	1004|4232	.|ENSP00000261800:M4232L	.|ENSP00000261800:M4232L	D|M	-|-	2|1	0|0	FAT2|FAT2	150865675|150865675	1.000000|1.000000	0.71417|0.71417	0.663000|0.663000	0.29738|0.29738	0.963000|0.963000	0.63663|0.63663	1.946000|1.946000	0.40283|0.40283	-0.867000|-0.867000	0.04063|0.04063	-0.366000|-0.366000	0.07423|0.07423	GAT|ATG		0.647	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447	
FAT2	2196	broad.mit.edu	37	5	150922142	150922142	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr5:150922142G>A	ENST00000261800.5	-	9	8558	c.8546C>T	c.(8545-8547)gCc>gTc	p.A2849V		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2849	Cadherin 25. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A2849V(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACTGTCAATGGCAAAGAGCTC	0.517																																					p.A2849V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C8546T	5						.						127.0	114.0	118.0					5																	150922142		2203	4300	6503	150902335	SO:0001583	missense	2196	exon9			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.8546C>T	5.37:g.150922142G>A	ENSP00000261800:p.Ala2849Val		150902335	NM_001447	O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.632280	0.87660	.	.	ENSG00000086570	ENST00000261800	T	0.03663	3.85	6.05	6.05	0.98169	Cadherin (4);Cadherin-like (1);	0.190009	0.37178	N	0.002219	T	0.08714	0.0216	L	0.35593	1.075	0.54753	D	0.999987	D	0.54964	0.969	P	0.53146	0.719	T	0.36335	-0.9752	10	0.29301	T	0.29	.	20.6013	0.99457	0.0:0.0:1.0:0.0	.	2849	Q9NYQ8	FAT2_HUMAN	V	2849	ENSP00000261800:A2849V	ENSP00000261800:A2849V	A	-	2	0	FAT2	150902335	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.914000	0.87478	2.878000	0.98634	0.650000	0.86243	GCC		0.517	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447	
FAXDC2	10826	broad.mit.edu	37	5	154202992	154202992	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr5:154202992G>A	ENST00000326080.5	-	6	950	c.527C>T	c.(526-528)gCc>gTc	p.A176V	FAXDC2_ENST00000517938.1_Missense_Mutation_p.A153V|FAXDC2_ENST00000523997.1_5'Flank	NM_032385.3	NP_115761.2	Q96IV6	FXDC2_HUMAN	fatty acid hydroxylase domain containing 2	176					fatty acid biosynthetic process (GO:0006633)	integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)	p.A176V(1)									CGTGAAGATGGCCAGCTCCAG	0.577																																					p.A176V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C527T	5						.						97.0	101.0	100.0					5																	154202992		2097	4229	6326	154183185	SO:0001583	missense	10826	exon6			AF159165	CCDS43390.1	5q31-q32	2013-03-04	2013-03-04	2013-03-04	ENSG00000170271	ENSG00000170271		"""Fatty acid hydroxylase domain containing"""	1334	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 4"""	C5orf4		10843801	Standard	NM_032385		Approved	FLJ13758	uc003lvs.4	Q96IV6	OTTHUMG00000164141	ENST00000326080.5:c.527C>T	5.37:g.154202992G>A	ENSP00000320604:p.Ala176Val		154183185	NM_032385	B4DIE1|Q9BSX6|Q9H8C7	Missense_Mutation	SNP	ENST00000326080.5	37	CCDS43390.1	.	.	.	.	.	.	.	.	.	.	G	7.814	0.716413	0.15306	.	.	ENSG00000170271	ENST00000326080;ENST00000517938	D;D	0.83837	-1.77;-1.77	4.67	-1.68	0.08212	Fatty acid hydroxylase (1);	1.607640	0.03954	N	0.288880	T	0.68879	0.3049	N	0.20610	0.595	0.09310	N	1	B	0.02656	0.0	B	0.12837	0.008	T	0.52193	-0.8608	10	0.12103	T	0.63	.	7.0637	0.25139	0.4354:0.1201:0.4445:0.0	.	176	Q96IV6	CE004_HUMAN	V	176;153	ENSP00000320604:A176V;ENSP00000430286:A153V	ENSP00000320604:A176V	A	-	2	0	C5orf4	154183185	0.001000	0.12720	0.003000	0.11579	0.644000	0.38419	0.278000	0.18753	-0.860000	0.04099	-0.258000	0.10820	GCC		0.577	FAXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377429.1	NM_032385	
GEMIN5	25929	broad.mit.edu	37	5	154300942	154300942	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr5:154300942T>C	ENST00000285873.7	-	10	1498	c.1423A>G	c.(1423-1425)Act>Gct	p.T475A		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	475					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)	p.T475A(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAGGCTAAAGTATATACAGTC	0.388																																					p.T475A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1423G	5						.						78.0	89.0	85.0					5																	154300942		2203	4300	6503	154281135	SO:0001583	missense	25929	exon10			AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"""WD repeat domain containing"""	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.1423A>G	5.37:g.154300942T>C	ENSP00000285873:p.Thr475Ala		154281135	NM_015465	Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Missense_Mutation	SNP	ENST00000285873.7	37	CCDS4330.1	.	.	.	.	.	.	.	.	.	.	T	3.546	-0.092727	0.07053	.	.	ENSG00000082516	ENST00000285873	T	0.04234	3.67	5.69	1.66	0.24008	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.357877	0.31404	N	0.007713	T	0.02193	0.0068	N	0.10874	0.06	0.33258	D	0.559411	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.38607	-0.9653	10	0.12430	T	0.62	-5.4683	6.4088	0.21680	0.3647:0.0708:0.0:0.5645	.	474;475	B7ZLC9;Q8TEQ6	.;GEMI5_HUMAN	A	475	ENSP00000285873:T475A	ENSP00000285873:T475A	T	-	1	0	GEMIN5	154281135	1.000000	0.71417	0.472000	0.27241	0.609000	0.37215	1.613000	0.36900	0.944000	0.37579	0.374000	0.22700	ACT		0.388	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1		
KIF4B	285643	broad.mit.edu	37	5	154395817	154395817	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr5:154395817T>C	ENST00000435029.4	+	1	2558	c.2398T>C	c.(2398-2400)Ttc>Ctc	p.F800L		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	800	Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)	p.F800L(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GAAGTGTACATTCTCCCTTTC	0.438																																					p.F800L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T2398C	5						.						48.0	51.0	50.0					5																	154395817		2199	4298	6497	154376010	SO:0001583	missense	285643	exon1			AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.2398T>C	5.37:g.154395817T>C	ENSP00000387875:p.Phe800Leu		154376010	NM_001099293		Missense_Mutation	SNP	ENST00000435029.4	37	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	t	3.135	-0.177622	0.06380	.	.	ENSG00000226650	ENST00000435029	T	0.65916	-0.18	1.48	1.48	0.22813	.	.	.	.	.	T	0.45558	0.1348	L	0.40543	1.245	0.29912	N	0.823479	B	0.06786	0.001	B	0.08055	0.003	T	0.36553	-0.9743	9	0.10636	T	0.68	.	6.9936	0.24769	0.0:0.0:0.0:1.0	.	800	Q2VIQ3	KIF4B_HUMAN	L	800	ENSP00000387875:F800L	ENSP00000387875:F800L	F	+	1	0	KIF4B	154376010	0.141000	0.22595	0.400000	0.26346	0.076000	0.17211	2.850000	0.48294	0.939000	0.37446	0.460000	0.39030	TTC		0.438	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1		
CLINT1	9685	broad.mit.edu	37	5	157241219	157241219	+	Missense_Mutation	SNP	C	C	T	rs567702393		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr5:157241219C>T	ENST00000411809.2	-	4	530	c.326G>A	c.(325-327)cGa>cAa	p.R109Q	CLINT1_ENST00000523094.1_Missense_Mutation_p.R91Q|CLINT1_ENST00000530742.1_Missense_Mutation_p.R91Q|CLINT1_ENST00000523908.1_Missense_Mutation_p.R109Q|CLINT1_ENST00000296951.5_Missense_Mutation_p.R91Q	NM_014666.3	NP_055481.1	Q14677	EPN4_HUMAN	clathrin interactor 1	109	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)	clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|lipid binding (GO:0008289)	p.R91Q(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTCCAGGGATCGTAAATCATA	0.388													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18877	0.0		0.0	False		,,,				2504	0.0				p.R109Q	Colon(22;427 587 2170 6147 14291)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G326A	5						.						86.0	81.0	82.0					5																	157241219		1854	4097	5951	157173797	SO:0001583	missense	9685	exon4			AF434813	CCDS47330.1, CCDS56388.1, CCDS56389.1	5q33.3	2006-06-13			ENSG00000113282	ENSG00000113282			23186	protein-coding gene	gene with protein product		607265				12213833, 12429846	Standard	NM_014666		Approved	ENTH, KIAA0171, EPNR, CLINT	uc011ddv.2	Q14677	OTTHUMG00000163527	ENST00000411809.2:c.326G>A	5.37:g.157241219C>T	ENSP00000388340:p.Arg109Gln		157173797	NM_014666	B7Z6F8|D3DQJ6|Q8NAF1|Q96E05	Missense_Mutation	SNP	ENST00000411809.2	37	CCDS47330.1	.	.	.	.	.	.	.	.	.	.	C	31	5.067666	0.93898	.	.	ENSG00000113282	ENST00000523094;ENST00000530742;ENST00000411809;ENST00000296951;ENST00000523908	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	5.82	5.82	0.92795	Epsin domain, N-terminal (1);ENTH/VHS (2);Epsin-like, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.56292	0.1975	L	0.49778	1.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.45731	-0.9241	10	0.02654	T	1	-0.5192	20.0966	0.97849	0.0:1.0:0.0:0.0	.	109;109	B7Z6F8;Q14677	.;EPN4_HUMAN	Q	91;91;109;91;109	ENSP00000429345:R91Q;ENSP00000433419:R91Q;ENSP00000388340:R109Q;ENSP00000296951:R91Q;ENSP00000429824:R109Q	ENSP00000296951:R91Q	R	-	2	0	CLINT1	157173797	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.751000	0.94390	0.650000	0.86243	CGA		0.388	CLINT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374001.1	NM_014666	
GABRG2	2566	broad.mit.edu	37	5	161569216	161569216	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr5:161569216G>T	ENST00000361925.4	+	7	1036	c.816G>T	c.(814-816)atG>atT	p.M272I	GABRG2_ENST00000414552.2_Missense_Mutation_p.M312I|GABRG2_ENST00000393933.4_Missense_Mutation_p.M177I|GABRG2_ENST00000356592.3_Missense_Mutation_p.M272I			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	272					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.M272I(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GCAGAAGAATGGGATACTTTA	0.433																																					p.M272I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G816T	5						.						319.0	277.0	291.0					5																	161569216		2203	4300	6503	161501794	SO:0001583	missense	2566	exon7				CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.816G>T	5.37:g.161569216G>T	ENSP00000354651:p.Met272Ile		161501794	NM_198904	F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	ENST00000361925.4	37	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.072679	0.55646	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933;ENST00000522053	D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73	5.87	5.0	0.66597	Neurotransmitter-gated ion-channel ligand-binding (2);Neurotransmitter-gated ion-channel transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.82518	0.5054	N	0.25380	0.74	0.80722	D	1	D;P;P	0.54047	0.964;0.899;0.877	P;P;P	0.61201	0.885;0.876;0.804	T	0.77864	-0.2429	10	0.07482	T	0.82	.	16.4939	0.84209	0.0:0.0:0.8681:0.1319	.	312;272;272	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	I	272;312;272;177;177	ENSP00000349000:M272I;ENSP00000410732:M312I;ENSP00000354651:M272I;ENSP00000377510:M177I;ENSP00000430182:M177I	ENSP00000349000:M272I	M	+	3	0	GABRG2	161501794	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.751000	0.98889	1.475000	0.48197	0.655000	0.94253	ATG		0.433	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1		
CCNG1	900	broad.mit.edu	37	5	162869082	162869082	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr5:162869082T>C	ENST00000340828.2	+	5	853	c.629T>C	c.(628-630)tTa>tCa	p.L210S	AC112205.1_ENST00000599797.1_Intron|CCNG1_ENST00000504553.1_Missense_Mutation_p.L76S|CCNG1_ENST00000393929.1_Missense_Mutation_p.L210S|CCNG1_ENST00000510664.1_Missense_Mutation_p.L82S|CCNG1_ENST00000512163.1_Missense_Mutation_p.L76S|CCNG1_ENST00000511683.2_Missense_Mutation_p.L76S	NM_004060.3	NP_004051.1	P51959	CCNG1_HUMAN	cyclin G1	210					brain development (GO:0007420)|cell growth (GO:0016049)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to organonitrogen compound (GO:0010243)|syncytium formation (GO:0006949)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)		p.L210S(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0597)|OV - Ovarian serous cystadenocarcinoma(192;0.107)|Epithelial(171;0.164)		ATCATTGCATTAGAGATCCAA	0.328																																					p.L210S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T629C	5						.						90.0	86.0	87.0					5																	162869082		2203	4299	6502	162801660	SO:0001583	missense	900	exon5			D78341	CCDS4360.1	5q32-q34	2010-11-15			ENSG00000113328	ENSG00000113328			1592	protein-coding gene	gene with protein product		601578		CCNG		8954786, 8806701	Standard	NM_004060		Approved		uc003lzb.3	P51959	OTTHUMG00000130380	ENST00000340828.2:c.629T>C	5.37:g.162869082T>C	ENSP00000344635:p.Leu210Ser		162801660	NM_004060	B2R7B2|B4DLW7|D3DQK7|Q15757|Q96L32	Missense_Mutation	SNP	ENST00000340828.2	37	CCDS4360.1	.	.	.	.	.	.	.	.	.	.	T	17.79	3.475469	0.63737	.	.	ENSG00000113328	ENST00000512163;ENST00000393929;ENST00000340828;ENST00000511683;ENST00000510664;ENST00000504553	T;T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12;1.12	6.16	6.16	0.99307	.	0.130780	0.52532	D	0.000075	T	0.62514	0.2434	M	0.69823	2.125	0.52099	D	0.999942	D	0.71674	0.998	D	0.64776	0.929	T	0.60383	-0.7274	10	0.36615	T	0.2	5.1438	16.8061	0.85666	0.0:0.0:0.0:1.0	.	210	P51959	CCNG1_HUMAN	S	76;210;210;76;82;76	ENSP00000424315:L76S;ENSP00000377506:L210S;ENSP00000344635:L210S;ENSP00000424141:L76S;ENSP00000422379:L82S;ENSP00000427086:L76S	ENSP00000344635:L210S	L	+	2	0	CCNG1	162801660	1.000000	0.71417	0.943000	0.38184	0.989000	0.77384	4.420000	0.59841	2.367000	0.80283	0.528000	0.53228	TTA		0.328	CCNG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252750.3	NM_004060	
TENM2	57451	broad.mit.edu	37	5	167617485	167617485	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr5:167617485C>T	ENST00000518659.1	+	14	2752	c.2713C>T	c.(2713-2715)Cgt>Tgt	p.R905C	TENM2_ENST00000520394.1_Missense_Mutation_p.R673C|TENM2_ENST00000545108.1_Missense_Mutation_p.R905C|TENM2_ENST00000519204.1_Missense_Mutation_p.R784C|CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000403607.2_Missense_Mutation_p.R729C	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	905					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.R738C(1)									CTTCTATGACCGTATCAAGCT	0.577																																					p.R896C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2686T	5						.						57.0	57.0	57.0					5																	167617485		1987	4158	6145	167550063	SO:0001583	missense	57451	exon14			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.2713C>T	5.37:g.167617485C>T	ENSP00000429430:p.Arg905Cys		167550063	NM_001122679	Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37		.	.	.	.	.	.	.	.	.	.	C	23.8	4.458892	0.84317	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.92805	-2.61;-2.61;-2.78;-3.04;-3.11	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.95532	0.8548	M	0.73598	2.24	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.988;0.973;0.995	D	0.95095	0.8225	10	0.52906	T	0.07	.	14.8873	0.70579	0.1434:0.8566:0.0:0.0	.	905;905;673	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	C	905;905;784;673;729	ENSP00000429430:R905C;ENSP00000438635:R905C;ENSP00000428964:R784C;ENSP00000427874:R673C;ENSP00000384905:R729C	ENSP00000384905:R729C	R	+	1	0	ODZ2	167550063	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.936000	0.48971	2.757000	0.94681	0.561000	0.74099	CGT		0.577	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679	
LCP2	3937	broad.mit.edu	37	5	169689735	169689735	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr5:169689735T>A	ENST00000046794.5	-	13	1445	c.830A>T	c.(829-831)gAg>gTg	p.E277V	LCP2_ENST00000521416.1_Missense_Mutation_p.E72V	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	277					blood coagulation (GO:0007596)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|innate immune response (GO:0045087)|mast cell activation (GO:0045576)|platelet activation (GO:0030168)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)		p.E277V(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		GGGTAAATGCTCCCCGAGTGA	0.502																																					p.E277V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A830T	5						.						86.0	85.0	85.0					5																	169689735		1941	4151	6092	169622313	SO:0001583	missense	3937	exon13				CCDS47339.1	5q35.1	2013-02-14	2002-08-29		ENSG00000043462	ENSG00000043462		"""SH2 domain containing"""	6529	protein-coding gene	gene with protein product	"""76 kDa tyrosine phosphoprotein"", ""SH2 domain-containing leukocyte protein of 76kD"""	601603	"""lymphocyte cytosolic protein 2 (SH2 domain-containing leukocyte protein of 76kD)"""	SLP76		7706237	Standard	NM_005565		Approved	SLP-76	uc003man.1	Q13094	OTTHUMG00000163121	ENST00000046794.5:c.830A>T	5.37:g.169689735T>A	ENSP00000046794:p.Glu277Val		169622313	NM_005565	A8KA25|Q53XV4	Missense_Mutation	SNP	ENST00000046794.5	37	CCDS47339.1	.	.	.	.	.	.	.	.	.	.	T	14.83	2.651391	0.47362	.	.	ENSG00000043462	ENST00000046794;ENST00000521416;ENST00000520344	T;T	0.52057	0.77;0.68	5.65	5.65	0.86999	.	0.478813	0.22937	N	0.053837	T	0.54481	0.1861	M	0.61703	1.905	0.58432	D	0.999993	D;D;P	0.56746	0.96;0.977;0.84	P;P;P	0.51266	0.634;0.664;0.513	T	0.55134	-0.8188	9	.	.	.	-7.8479	12.2692	0.54695	0.0:0.0:0.0:1.0	.	72;277;277	E7ESF6;A8KA25;Q13094	.;.;LCP2_HUMAN	V	277;72;44	ENSP00000046794:E277V;ENSP00000428871:E72V	.	E	-	2	0	LCP2	169622313	0.998000	0.40836	0.570000	0.28473	0.109000	0.19521	4.328000	0.59253	2.149000	0.67028	0.533000	0.62120	GAG		0.502	LCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371727.1	NM_005565	
SFXN1	94081	broad.mit.edu	37	5	174938494	174938494	+	Missense_Mutation	SNP	G	G	A	rs374767128		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr5:174938494G>A	ENST00000321442.5	+	5	729	c.475G>A	c.(475-477)Gta>Ata	p.V159I	SFXN1_ENST00000502393.1_Missense_Mutation_p.V159I	NM_022754.5	NP_073591.2	Q9H9B4	SFXN1_HUMAN	sideroflexin 1	159					erythrocyte differentiation (GO:0030218)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)	p.V159I(1)		endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3)	15	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			AACTGGTGCCGTAGCAACAGC	0.428																																					p.V159I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G475A	5						.	G	ILE/VAL	0,4406		0,0,2203	219.0	204.0	209.0		475	5.4	0.6	5		209	1,8599	1.2+/-3.3	0,1,4299	no	missense	SFXN1	NM_022754.5	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	159/323	174938494	1,13005	2203	4300	6503	174871100	SO:0001583	missense	94081	exon5			AF327346	CCDS4394.1	5q35.3	2008-02-05			ENSG00000164466	ENSG00000164466		"""Sideroflexins"""	16085	protein-coding gene	gene with protein product		615569					Standard	NM_022754		Approved	FLJ12876	uc003mda.2	Q9H9B4	OTTHUMG00000130555	ENST00000321442.5:c.475G>A	5.37:g.174938494G>A	ENSP00000316905:p.Val159Ile		174871100	NM_022754	B3KPW3|D3DQN2|Q9HA53	Missense_Mutation	SNP	ENST00000321442.5	37	CCDS4394.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.617507	0.87359	0.0	1.16E-4	ENSG00000164466	ENST00000321442;ENST00000506963	T;T	0.30182	1.54;1.54	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.38506	0.1043	L	0.58925	1.835	0.80722	D	1	B;P	0.45672	0.327;0.864	B;P	0.45232	0.126;0.474	T	0.10636	-1.0621	10	0.36615	T	0.2	-28.784	18.1431	0.89647	0.0:0.0:1.0:0.0	.	159;159	D6RFI0;Q9H9B4	.;SFXN1_HUMAN	I	159	ENSP00000316905:V159I;ENSP00000421467:V159I	ENSP00000316905:V159I	V	+	1	0	SFXN1	174871100	1.000000	0.71417	0.588000	0.28705	0.980000	0.70556	9.559000	0.98135	2.529000	0.85273	0.655000	0.94253	GTA		0.428	SFXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252980.2	NM_022754	
UNC5A	90249	broad.mit.edu	37	5	176297514	176297514	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr5:176297514A>G	ENST00000329542.4	+	6	1139	c.865A>G	c.(865-867)Acc>Gcc	p.T289A	UNC5A_ENST00000261961.3_Missense_Mutation_p.T249A	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	289	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T289A(1)		endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCGCAACTGTACCAGTGACCT	0.647																																					p.T289A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A865G	5						.						65.0	68.0	67.0					5																	176297514		2200	4299	6499	176230120	SO:0001583	missense	90249	exon6			AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"""Immunoglobulin superfamily / I-set domain containing"""	12567	protein-coding gene	gene with protein product		607869	"""unc5 (C.elegans homolog) a"""				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.865A>G	5.37:g.176297514A>G	ENSP00000332737:p.Thr289Ala		176230120	NM_133369	B2RXE6|Q8TF26|Q96GP4	Missense_Mutation	SNP	ENST00000329542.4	37	CCDS34299.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.21|15.21	2.764536|2.764536	0.49574|0.49574	.|.	.|.	ENSG00000113763|ENSG00000113763	ENST00000329542;ENST00000261961|ENST00000509580	T;T|.	0.60672|.	0.17;0.17|.	4.57|4.57	4.57|4.57	0.56435|0.56435	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74442|0.74442	0.3717|0.3717	M|M	0.78285|0.78285	2.405|2.405	0.50813|0.50813	D|D	0.999892|0.999892	D;D;D|.	0.76494|.	0.987;0.999;0.99|.	D;D;D|.	0.79784|.	0.925;0.993;0.979|.	T|T	0.76313|0.76313	-0.3005|-0.3005	10|5	0.87932|.	D|.	0|.	-42.5467|-42.5467	13.9301|13.9301	0.63989|0.63989	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	249;289;289|.	Q6ZN44-3;Q6ZN44;Q6ZN44-2|.	.;UNC5A_HUMAN;.|.	A|C	289;249|310	ENSP00000332737:T289A;ENSP00000261961:T249A|.	ENSP00000261961:T249A|.	T|Y	+|+	1|2	0|0	UNC5A|UNC5A	176230120|176230120	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.070000|0.070000	0.16714|0.16714	7.327000|7.327000	0.79147|0.79147	1.703000|1.703000	0.51240|0.51240	0.254000|0.254000	0.18369|0.18369	ACC|TAC		0.647	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	XM_030300	
FGFR4	2264	broad.mit.edu	37	5	176522651	176522651	+	Missense_Mutation	SNP	C	C	A	rs138800021		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr5:176522651C>A	ENST00000292408.4	+	13	1993	c.1748C>A	c.(1747-1749)cCg>cAg	p.P583Q	FGFR4_ENST00000393648.2_Missense_Mutation_p.P515Q|FGFR4_ENST00000393637.1_Missense_Mutation_p.P543Q|FGFR4_ENST00000502906.1_Missense_Mutation_p.P583Q|FGFR4_ENST00000292410.3_Missense_Mutation_p.P543Q	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	583	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)	p.P543Q(1)|p.P583Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)|Ponatinib(DB08901)	AGTGAGGGGCCGCTCTCCTTC	0.706										TSP Lung(9;0.080)																											p.P583Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1748A	5						.						31.0	35.0	34.0					5																	176522651		2203	4300	6503	176455257	SO:0001583	missense	2264	exon13			AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.1748C>A	5.37:g.176522651C>A	ENSP00000292408:p.Pro583Gln		176455257	NM_213647	G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Missense_Mutation	SNP	ENST00000292408.4	37	CCDS4410.1	.	.	.	.	.	.	.	.	.	.	C	7.685	0.689802	0.14973	.	.	ENSG00000160867	ENST00000292408;ENST00000393648;ENST00000502906;ENST00000292410;ENST00000393637;ENST00000377207	D;D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58;-1.58	5.29	4.34	0.51931	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.114519	0.64402	D	0.000007	T	0.63558	0.2521	N	0.17674	0.51	0.46131	D	0.998886	B;B;B	0.14805	0.01;0.008;0.011	B;B;B	0.15870	0.01;0.006;0.014	T	0.56535	-0.7963	10	0.02654	T	1	.	5.9314	0.19140	0.3063:0.5939:0.0:0.0998	.	515;543;583	B4DVP5;P22455-2;P22455	.;.;FGFR4_HUMAN	Q	583;515;583;543;543;811	ENSP00000292408:P583Q;ENSP00000377259:P515Q;ENSP00000424960:P583Q;ENSP00000292410:P543Q;ENSP00000377254:P543Q	ENSP00000292408:P583Q	P	+	2	0	FGFR4	176455257	1.000000	0.71417	0.944000	0.38274	0.376000	0.30014	5.560000	0.67332	2.478000	0.83669	0.561000	0.74099	CCG		0.706	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253410.1		
NSD1	64324	broad.mit.edu	37	5	176721368	176721368	+	Silent	SNP	C	C	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr5:176721368C>A	ENST00000439151.2	+	23	7044	c.6999C>A	c.(6997-6999)ccC>ccA	p.P2333P	NSD1_ENST00000354179.4_Silent_p.P2064P|NSD1_ENST00000347982.4_Silent_p.P2064P|NSD1_ENST00000361032.4_Silent_p.P2230P	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2333	Pro-rich.				gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.P2333P(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GCGACAAACCCTCTCCAGTGA	0.592			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																											p.P2333P			Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C6999A	5						.						52.0	46.0	48.0					5																	176721368		2203	4300	6503	176653974	SO:0001819	synonymous_variant	64324	exon23	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.6999C>A	5.37:g.176721368C>A			176653974	NM_022455	Q96PD8|Q96RN7	Silent	SNP	ENST00000439151.2	37	CCDS4412.1																																																																																				0.592	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349	
GRK6	2870	broad.mit.edu	37	5	176863409	176863409	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr5:176863409C>A	ENST00000355472.5	+	13	1450	c.1282C>A	c.(1282-1284)Cct>Act	p.P428T	PRR7-AS1_ENST00000425316.3_RNA|GRK6_ENST00000355958.5_Missense_Mutation_p.P428T|GRK6_ENST00000507633.1_Missense_Mutation_p.P428T|GRK6_ENST00000528793.1_Missense_Mutation_p.P428T|GRK6_ENST00000393576.3_Missense_Mutation_p.P394T	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	428	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)	p.P428T(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGCAAGGACCCTGCCGAACG	0.662																																					p.P428T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1282A	5						.						27.0	28.0	27.0					5																	176863409		2203	4297	6500	176796015	SO:0001583	missense	2870	exon13				CCDS34303.1, CCDS43406.1, CCDS47348.1	5q35	2011-01-14	2004-02-04	2004-02-06	ENSG00000198055	ENSG00000198055			4545	protein-coding gene	gene with protein product		600869		GPRK6		8415712	Standard	NM_002082		Approved		uc021yiu.1	P43250	OTTHUMG00000163401	ENST00000355472.5:c.1282C>A	5.37:g.176863409C>A	ENSP00000347655:p.Pro428Thr		176796015	NM_001004105	O60541|Q13652	Missense_Mutation	SNP	ENST00000355472.5	37	CCDS34303.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.827331	0.71143	.	.	ENSG00000198055	ENST00000355472;ENST00000507633;ENST00000393576;ENST00000355958;ENST00000528793	T;T;T;T;T	0.73363	-0.74;1.21;-0.74;-0.74;-0.74	5.57	5.57	0.84162	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.88433	0.6435	M	0.92459	3.31	0.80722	D	1	P;P;P;P	0.52692	0.789;0.83;0.622;0.955	P;P;B;P	0.57846	0.471;0.686;0.344;0.828	D	0.90301	0.4330	10	0.59425	D	0.04	-8.3737	19.5555	0.95345	0.0:1.0:0.0:0.0	.	428;398;428;428	P43250;B3KPS5;P43250-2;D6RHX8	GRK6_HUMAN;.;.;.	T	428;428;394;428;428	ENSP00000347655:P428T;ENSP00000427581:P428T;ENSP00000377204:P394T;ENSP00000348230:P428T;ENSP00000433511:P428T	ENSP00000347655:P428T	P	+	1	0	GRK6	176796015	1.000000	0.71417	0.998000	0.56505	0.373000	0.29922	7.674000	0.83992	2.625000	0.88918	0.484000	0.47621	CCT		0.662	GRK6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373204.1	NM_002082	
PDCD6	10016	broad.mit.edu	37	5	306743	306743	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr5:306743G>A	ENST00000264933.4	+	4	335	c.235G>A	c.(235-237)Ggc>Agc	p.G79S	PDCD6_ENST00000505221.1_Intron|AHRR_ENST00000512529.1_Intron|AHRR_ENST00000316418.5_Intron|PDCD6_ENST00000507528.1_Missense_Mutation_p.G79S|AHRR_ENST00000505113.1_Intron	NM_001267556.1|NM_001267558.1|NM_013232.3	NP_001254485.1|NP_001254487.1|NP_037364.1	O75340	PDCD6_HUMAN	programmed cell death 6	79	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|proteolysis (GO:0006508)|response to calcium ion (GO:0051592)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|calcium-dependent protein binding (GO:0048306)|protein dimerization activity (GO:0046983)	p.G79S(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(1)	8			Epithelial(17;0.00193)|OV - Ovarian serous cystadenocarcinoma(19;0.00489)|all cancers(22;0.00511)|Lung(60;0.113)			GAACAAGGCCGGCGTGAACTT	0.542																																					p.G79S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G235A	5						.						88.0	73.0	78.0					5																	306743		2203	4300	6503	359743	SO:0001583	missense	10016	exon4			AF035606	CCDS3854.1, CCDS58940.1, CCDS58941.1, CCDS75222.1, CCDS75223.1	5p15.33	2013-01-10			ENSG00000249915	ENSG00000249915		"""EF-hand domain containing"""	8765	protein-coding gene	gene with protein product	"""apoptosis-linked gene-2"""	601057				8560270	Standard	NM_013232		Approved	ALG-2, PEF1B	uc003jat.1	O75340	OTTHUMG00000090283	ENST00000264933.4:c.235G>A	5.37:g.306743G>A	ENSP00000264933:p.Gly79Ser		359743	NM_013232	B2RD16|E7ESR3|Q2YDC2|Q5TZS0	Missense_Mutation	SNP	ENST00000264933.4	37	CCDS3854.1	.	.	.	.	.	.	.	.	.	.	g	11.34	1.610203	0.28712	.	.	ENSG00000249915	ENST00000264933;ENST00000507528	T;T	0.78126	-1.15;-1.15	5.53	5.53	0.82687	EF-hand-like domain (1);	.	.	.	.	T	0.55657	0.1934	N	0.02539	-0.55	0.80722	D	1	B;B	0.25235	0.121;0.023	B;B	0.18263	0.021;0.01	T	0.55464	-0.8137	9	0.25106	T	0.35	.	16.9576	0.86263	0.0:0.0:1.0:0.0	.	79;79	Q2YDC2;O75340	.;PDCD6_HUMAN	S	79	ENSP00000264933:G79S;ENSP00000423815:G79S	ENSP00000264933:G79S	G	+	1	0	PDCD6	359743	1.000000	0.71417	0.217000	0.23759	0.028000	0.11728	8.839000	0.92120	2.599000	0.87857	0.650000	0.86243	GGC		0.542	PDCD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206609.2	NM_013232	
ZDHHC11	79844	broad.mit.edu	37	5	850639	850639	+	Missense_Mutation	SNP	G	G	A	rs147092294		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr5:850639G>A	ENST00000283441.8	-	1	462	c.79C>T	c.(79-81)Cgc>Tgc	p.R27C	ZDHHC11_ENST00000424784.2_Missense_Mutation_p.R27C	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	27						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			CTGGAGATGCGGGGCGGCAAG	0.597																																					p.R27C												.	.	0			c.C79T	5						.	G	CYS/ARG	2,4404		0,2,2201	92.0	91.0	91.0		79	3.2	0.0	5	dbSNP_134	91	0,8600		0,0,4300	no	missense	ZDHHC11	NM_024786.2	180	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	27/413	850639	2,13004	2203	4300	6503	903639	SO:0001583	missense	79844	exon1			AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"""Zinc fingers, DHHC-type"""	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000283441.8:c.79C>T	5.37:g.850639G>A	ENSP00000283441:p.Arg27Cys		903639	NM_024786	Q6UWR9	Missense_Mutation	SNP	ENST00000283441.8	37	CCDS3857.1	.	.	.	.	.	.	.	.	.	.	N	18.35	3.604907	0.66445	4.54E-4	0.0	ENSG00000188818	ENST00000424784;ENST00000283441	T;T	0.29397	1.57;1.57	4.17	3.21	0.36854	.	.	.	.	.	T	0.35422	0.0931	L	0.40543	1.245	0.40671	D	0.982215	D	0.76494	0.999	P	0.55824	0.785	T	0.16364	-1.0405	9	0.66056	D	0.02	-9.1928	8.2224	0.31549	0.0:0.0:0.7426:0.2574	.	27	Q9H8X9	ZDH11_HUMAN	C	27	ENSP00000397719:R27C;ENSP00000283441:R27C	ENSP00000283441:R27C	R	-	1	0	ZDHHC11	903639	0.000000	0.05858	0.003000	0.11579	0.005000	0.04900	0.440000	0.21592	2.144000	0.66660	0.511000	0.50034	CGC		0.597	ZDHHC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206681.3	NM_024786	
ADAMTS12	81792	broad.mit.edu	37	5	33576413	33576413	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr5:33576413C>T	ENST00000504830.1	-	19	4053	c.3718G>A	c.(3718-3720)Gtt>Att	p.V1240I	ADAMTS12_ENST00000504582.1_5'Flank|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.V1155I	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1240	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.V1240I(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TTTTCAGTAACCATCCCCTCA	0.562										HNSCC(64;0.19)																											p.V1240I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3718A	5						.						141.0	138.0	139.0					5																	33576413		2203	4300	6503	33612170	SO:0001583	missense	81792	exon19			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3718G>A	5.37:g.33576413C>T	ENSP00000422554:p.Val1240Ile		33612170	NM_030955	A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	1.165	-0.642629	0.03531	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.59502	0.27;0.26	5.47	1.27	0.21489	.	0.923564	0.09319	N	0.818460	T	0.33527	0.0866	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.002	T	0.20706	-1.0267	10	0.17832	T	0.49	.	3.8417	0.08917	0.5132:0.2747:0.0:0.2121	.	1155;1240	P58397-3;P58397	.;ATS12_HUMAN	I	1240;1155	ENSP00000422554:V1240I;ENSP00000344847:V1155I	ENSP00000344847:V1155I	V	-	1	0	ADAMTS12	33612170	0.000000	0.05858	0.003000	0.11579	0.019000	0.09904	-0.123000	0.10611	0.221000	0.20879	0.655000	0.94253	GTT		0.562	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955	
RAI14	26064	broad.mit.edu	37	5	34824304	34824304	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr5:34824304G>A	ENST00000265109.3	+	15	2644	c.2357G>A	c.(2356-2358)cGg>cAg	p.R786Q	RAI14_ENST00000506376.1_Missense_Mutation_p.R778Q|RAI14_ENST00000515799.1_Missense_Mutation_p.R789Q|RAI14_ENST00000428746.2_Missense_Mutation_p.R786Q|RAI14_ENST00000503673.1_Missense_Mutation_p.R786Q|RAI14_ENST00000512629.1_Missense_Mutation_p.R757Q|RAI14_ENST00000397449.1_Missense_Mutation_p.R779Q	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	786						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.R786L(1)|p.R786Q(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					ATGGTACCTCGGTCTTCCTAT	0.418																																					p.R757Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G2270A	5						.						123.0	124.0	124.0					5																	34824304		2203	4300	6503	34860061	SO:0001583	missense	26064	exon14			AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.2357G>A	5.37:g.34824304G>A	ENSP00000265109:p.Arg786Gln		34860061	NM_001145522	E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	ENST00000265109.3	37	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.794539	0.31777	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T	0.39056	1.14;1.1;1.14;1.14;1.15;1.19;1.18	5.4	2.09	0.27110	.	.	.	.	.	T	0.37376	0.1001	L	0.34521	1.04	0.09310	N	1	P;P;D;P	0.57899	0.921;0.922;0.981;0.938	B;B;P;B	0.47915	0.308;0.196;0.561;0.358	T	0.17653	-1.0362	9	0.72032	D	0.01	-7.8141	9.5185	0.39120	0.3395:0.0:0.6605:0.0	.	778;757;789;786	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	Q	786;757;786;786;789;778;779	ENSP00000265109:R786Q;ENSP00000422377:R757Q;ENSP00000388725:R786Q;ENSP00000422942:R786Q;ENSP00000427123:R789Q;ENSP00000423854:R778Q;ENSP00000380591:R779Q	ENSP00000265109:R786Q	R	+	2	0	RAI14	34860061	0.921000	0.31238	0.627000	0.29227	0.240000	0.25518	1.641000	0.37197	0.093000	0.17368	0.555000	0.69702	CGG		0.418	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577	
LMBRD2	92255	broad.mit.edu	37	5	36143403	36143403	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr5:36143403C>T	ENST00000296603.4	-	2	511	c.49G>A	c.(49-51)Gca>Aca	p.A17T		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	17						integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.A17T(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGAAATAATGCCAGAAAAAAG	0.368																																					p.A17T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G49A	5						.						122.0	112.0	115.0					5																	36143403		2203	4300	6503	36179160	SO:0001583	missense	92255	exon2				CCDS34145.1	5p13.2	2008-02-05			ENSG00000164187	ENSG00000164187			25287	protein-coding gene	gene with protein product							Standard	NM_001007527		Approved	DKFZp434H2226	uc003jkb.1	Q68DH5	OTTHUMG00000162150	ENST00000296603.4:c.49G>A	5.37:g.36143403C>T	ENSP00000296603:p.Ala17Thr		36179160	NM_001007527	B3KRB6|Q9NTC7	Missense_Mutation	SNP	ENST00000296603.4	37	CCDS34145.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.879124	0.91740	.	.	ENSG00000164187	ENST00000296603	T	0.32515	1.45	5.18	5.18	0.71444	LMBR1-like membrane protein (1);	0.000000	0.85682	D	0.000000	T	0.45518	0.1346	L	0.35542	1.07	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	T	0.20075	-1.0286	10	0.25751	T	0.34	-13.7913	18.6957	0.91600	0.0:1.0:0.0:0.0	.	17	Q68DH5	LMBD2_HUMAN	T	17	ENSP00000296603:A17T	ENSP00000296603:A17T	A	-	1	0	LMBRD2	36179160	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.169000	0.77578	2.403000	0.81681	0.555000	0.69702	GCA		0.368	LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367552.1	NM_001007527	
NIPBL	25836	broad.mit.edu	37	5	37008134	37008134	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr5:37008134delT	ENST00000282516.8	+	19	4763	c.4264delT	c.(4264-4266)tttfs	p.F1423fs	NIPBL_ENST00000448238.2_Frame_Shift_Del_p.F1423fs	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1423					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.F1423fs*15(2)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AATAACACCATTTTTTGTGGA	0.299																																					p.F1422fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.4264delT	5						.						99.0	98.0	99.0					5																	37008134		2202	4295	6497	37043891	SO:0001589	frameshift_variant	25836	exon19			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.4264delT	5.37:g.37008134delT	ENSP00000282516:p.Phe1423fs		37043891	NM_015384	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Frame_Shift_Del	DEL	ENST00000282516.8	37	CCDS3920.1																																																																																				0.299	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384	
C5orf42	65250	broad.mit.edu	37	5	37173971	37173971	+	Silent	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr5:37173971T>C	ENST00000508244.1	-	31	6150	c.6057A>G	c.(6055-6057)caA>caG	p.Q2019Q	C5orf42_ENST00000425232.2_Silent_p.Q2019Q|C5orf42_ENST00000274258.7_Silent_p.Q899Q			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2019						integral component of membrane (GO:0016021)		p.Q899Q(1)|p.Q2019Q(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GAGCAGGTGGTTGTGAAGCAA	0.418																																					p.Q2019Q												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A6057G	5						.						145.0	137.0	140.0					5																	37173971		2203	4300	6503	37209728	SO:0001819	synonymous_variant	65250	exon32				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.6057A>G	5.37:g.37173971T>C			37209728	NM_023073	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Silent	SNP	ENST00000508244.1	37	CCDS34146.2																																																																																				0.418	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073	
WDR70	55100	broad.mit.edu	37	5	37516692	37516692	+	Splice_Site	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr5:37516692C>T	ENST00000265107.4	+	9	1073	c.917C>T	c.(916-918)gCg>gTg	p.A306V	WDR70_ENST00000504564.1_Splice_Site_p.A306V|WDR70_ENST00000510699.1_3'UTR	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	306							enzyme binding (GO:0019899)	p.A306V(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCAAATGATGCGTGAGTATTG	0.333																																					p.A306V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C917T	5						.						106.0	104.0	104.0					5																	37516692		2203	4299	6502	37552449	SO:0001630	splice_region_variant	55100	exon9			BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"""WD repeat domain containing"""	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.917+1C>T	5.37:g.37516692C>T			37552449	NM_018034	Q9H053	Missense_Mutation	SNP	ENST00000265107.4	37	CCDS34147.1	.	.	.	.	.	.	.	.	.	.	C	18.99	3.738999	0.69304	.	.	ENSG00000082068	ENST00000265107;ENST00000504564	T;D	0.86297	5.0;-2.1	5.27	4.34	0.51931	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.057293	0.64402	U	0.000002	T	0.80706	0.4674	L	0.38175	1.15	0.80722	D	1	P;P	0.49185	0.89;0.92	B;B	0.40444	0.329;0.15	T	0.82824	-0.0266	10	0.59425	D	0.04	-29.636	12.0751	0.53638	0.0:0.6429:0.3571:0.0	.	306;306	D6RIW8;Q9NW82	.;WDR70_HUMAN	V	306	ENSP00000265107:A306V;ENSP00000425841:A306V	ENSP00000265107:A306V	A	+	2	0	WDR70	37552449	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.183000	0.65065	2.640000	0.89533	0.655000	0.94253	GCG		0.333	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1	NM_018034	Missense_Mutation
EGFLAM	133584	broad.mit.edu	37	5	38451473	38451473	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr5:38451473G>A	ENST00000354891.3	+	20	2970	c.2624G>A	c.(2623-2625)gGc>gAc	p.G875D	EGFLAM_ENST00000397202.2_Missense_Mutation_p.G233D|EGFLAM_ENST00000322350.5_Missense_Mutation_p.G867D|EGFLAM_ENST00000397210.3_Missense_Mutation_p.G10D|EGFLAM_ENST00000514476.1_Missense_Mutation_p.G10D|EGFLAM_ENST00000336740.6_Missense_Mutation_p.G633D|EGFLAM_ENST00000506135.1_Missense_Mutation_p.G10D	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	875	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)	p.G867D(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GCCAAGGATGGCCTTTTGCTG	0.502																																					p.G633D	Colon(62;485 1295 3347 17454)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1898A	5						.						210.0	186.0	194.0					5																	38451473		2203	4300	6503	38487230	SO:0001583	missense	133584	exon14			AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.2624G>A	5.37:g.38451473G>A	ENSP00000346964:p.Gly875Asp		38487230	NM_182798	A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604973	0.87157	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000397202;ENST00000339580;ENST00000397210;ENST00000506135;ENST00000508131;ENST00000514476	D;D;D;D;D;D;D;D	0.90563	-2.69;-2.69;-2.69;-2.69;-2.19;-2.19;-2.69;-2.19	5.63	4.77	0.60923	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.051500	0.85682	N	0.000000	D	0.96632	0.8901	H	0.95816	3.725	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97553	1.0093	10	0.87932	D	0	-10.0338	14.2308	0.65890	0.0723:0.0:0.9277:0.0	.	633;875;867	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	D	875;867;633;233;633;10;10;10;10	ENSP00000346964:G875D;ENSP00000313084:G867D;ENSP00000337607:G633D;ENSP00000380385:G233D;ENSP00000380393:G10D;ENSP00000425579:G10D;ENSP00000427228:G10D;ENSP00000423228:G10D	ENSP00000313084:G867D	G	+	2	0	EGFLAM	38487230	1.000000	0.71417	0.987000	0.45799	0.955000	0.61496	9.431000	0.97494	1.377000	0.46286	0.650000	0.86243	GGC		0.502	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403	
RICTOR	253260	broad.mit.edu	37	5	38982101	38982101	+	Silent	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr5:38982101T>C	ENST00000357387.3	-	8	651	c.621A>G	c.(619-621)ggA>ggG	p.G207G	RICTOR_ENST00000296782.5_Silent_p.G207G	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2									p.G207G(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TGGTGTTTAGTCCACCTCGAA	0.343																																					p.G207G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A621G	5						.						140.0	148.0	146.0					5																	38982101		2203	4300	6503	39017858	SO:0001819	synonymous_variant	253260	exon8				CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.621A>G	5.37:g.38982101T>C			39017858	NM_152756		Silent	SNP	ENST00000357387.3	37	CCDS34148.1																																																																																				0.343	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756	
RICTOR	253260	broad.mit.edu	37	5	39002764	39002764	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr5:39002764G>A	ENST00000357387.3	-	5	295	c.265C>T	c.(265-267)Cgg>Tgg	p.R89W	RICTOR_ENST00000296782.5_Missense_Mutation_p.R89W	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2									p.R89W(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					AAAGCTAACCGCAAACTGTAT	0.373																																					p.R89W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C265T	5						.						88.0	94.0	92.0					5																	39002764		2203	4300	6503	39038521	SO:0001583	missense	253260	exon5				CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.265C>T	5.37:g.39002764G>A	ENSP00000349959:p.Arg89Trp		39038521	NM_152756		Missense_Mutation	SNP	ENST00000357387.3	37	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.431151	0.83776	.	.	ENSG00000164327	ENST00000357387;ENST00000296782;ENST00000514735	T;T;T	0.65549	-0.16;-0.16;-0.16	5.6	5.6	0.85130	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.79811	0.4510	M	0.77486	2.375	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;0.992;0.993;0.996	T	0.81519	-0.0896	10	0.87932	D	0	-10.0636	16.2533	0.82498	0.0:0.0:0.8668:0.1332	.	89;89;89;89	Q8N6M7;E7ETT0;Q6R327;Q6R327-3	.;.;RICTR_HUMAN;.	W	89;89;73	ENSP00000349959:R89W;ENSP00000296782:R89W;ENSP00000423162:R73W	ENSP00000296782:R89W	R	-	1	2	RICTOR	39038521	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.322000	0.59215	2.797000	0.96272	0.650000	0.86243	CGG		0.373	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756	
C9	735	broad.mit.edu	37	5	39315922	39315922	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr5:39315922G>A	ENST00000263408.4	-	6	920	c.825C>T	c.(823-825)tcC>tcT	p.S275S	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	275	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)		p.S275S(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TTTCATTTTTGGAATATGAAA	0.338																																					p.S275S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C825T	5						.						72.0	74.0	73.0					5																	39315922		2203	4300	6503	39351679	SO:0001819	synonymous_variant	735	exon6				CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"""Complement system"""	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.825C>T	5.37:g.39315922G>A			39351679	NM_001737		Silent	SNP	ENST00000263408.4	37	CCDS3929.1																																																																																				0.338	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3		
CARD6	84674	broad.mit.edu	37	5	40852864	40852864	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr5:40852864C>A	ENST00000254691.5	+	3	1629	c.1430C>A	c.(1429-1431)cCt>cAt	p.P477H	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	477					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)			p.P477H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						CTTCTCAGCCCTGCCCAGTTG	0.438																																					p.P477H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1430A	5						.						76.0	76.0	76.0					5																	40852864		2203	4300	6503	40888621	SO:0001583	missense	84674	exon3			AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.1430C>A	5.37:g.40852864C>A	ENSP00000254691:p.Pro477His		40888621	NM_032587	Q52LR2	Missense_Mutation	SNP	ENST00000254691.5	37	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.757223	0.31137	.	.	ENSG00000132357	ENST00000254691	T	0.12984	2.63	5.48	4.62	0.57501	.	0.515778	0.19579	N	0.110903	T	0.34077	0.0885	M	0.75615	2.305	0.22728	N	0.998809	D	0.76494	0.999	D	0.64042	0.921	T	0.12656	-1.0539	10	0.87932	D	0	-6.7598	11.9528	0.52964	0.0:0.9168:0.0:0.0832	.	477	Q9BX69	CARD6_HUMAN	H	477	ENSP00000254691:P477H	ENSP00000254691:P477H	P	+	2	0	CARD6	40888621	0.037000	0.19845	0.029000	0.17559	0.214000	0.24535	1.587000	0.36622	1.547000	0.49401	0.650000	0.86243	CCT		0.438	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3		
ISL1	3670	broad.mit.edu	37	5	50683359	50683359	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr5:50683359G>A	ENST00000230658.7	+	3	839	c.254G>A	c.(253-255)gGc>gAc	p.G85D	ISL1_ENST00000505475.2_3'UTR|ISL1_ENST00000511384.1_Missense_Mutation_p.G85D	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	85	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				atrial septum morphogenesis (GO:0060413)|axon regeneration (GO:0031103)|cardiac cell fate determination (GO:0060913)|cardiac muscle cell myoblast differentiation (GO:0060379)|cardiac right ventricle morphogenesis (GO:0003215)|cellular response to glucocorticoid stimulus (GO:0071385)|endocardial cushion morphogenesis (GO:0003203)|innervation (GO:0060384)|mesenchymal cell differentiation (GO:0048762)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of protein homodimerization activity (GO:0090074)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate specification (GO:0048665)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|pancreas development (GO:0031016)|peripheral nervous system neuron axonogenesis (GO:0048936)|pharyngeal system development (GO:0060037)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 alpha production (GO:0032730)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage colony-stimulating factor production (GO:1901258)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|retinal ganglion cell axon guidance (GO:0031290)|secondary heart field specification (GO:0003139)|sensory system development (GO:0048880)|spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron differentiation (GO:0021522)|trigeminal nerve development (GO:0021559)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|zinc ion binding (GO:0008270)	p.G85D(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				TGCAGCATCGGCTTCAGCAAG	0.632																																					p.G85D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G254A	5						.						39.0	42.0	41.0					5																	50683359		2077	4202	6279	50719116	SO:0001583	missense	3670	exon3			BC031213	CCDS43314.1	5q11.2	2012-03-09	2007-07-13		ENSG00000016082	ENSG00000016082		"""Homeoboxes / LIM class"""	6132	protein-coding gene	gene with protein product		600366	"""ISL1 transcription factor, LIM/homeodomain, (islet-1)"""			7912209	Standard	NM_002202		Approved	Isl-1, ISLET1	uc003jor.3	P61371	OTTHUMG00000162281	ENST00000230658.7:c.254G>A	5.37:g.50683359G>A	ENSP00000230658:p.Gly85Asp		50719116	NM_002202	P20663|P47894	Missense_Mutation	SNP	ENST00000230658.7	37	CCDS43314.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.026646	0.75390	.	.	ENSG00000016082	ENST00000230658;ENST00000503187;ENST00000511384	D;D	0.87650	-2.28;-2.28	5.68	5.68	0.88126	Zinc finger, LIM-type (5);	0.107337	0.64402	D	0.000005	D	0.89911	0.6852	M	0.78223	2.4	0.80722	D	1	B	0.32467	0.372	B	0.38921	0.285	D	0.89363	0.3669	10	0.66056	D	0.02	.	19.4482	0.94857	0.0:0.0:1.0:0.0	.	85	P61371	ISL1_HUMAN	D	85	ENSP00000230658:G85D;ENSP00000422676:G85D	ENSP00000230658:G85D	G	+	2	0	ISL1	50719116	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.740000	0.84986	2.694000	0.91930	0.555000	0.69702	GGC		0.632	ISL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368413.3	NM_002202	
ESM1	11082	broad.mit.edu	37	5	54281164	54281164	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr5:54281164C>T	ENST00000381405.4	-	1	327	c.182G>A	c.(181-183)cGg>cAg	p.R61Q	ESM1_ENST00000381403.4_Missense_Mutation_p.R61Q|ESM1_ENST00000598310.1_Intron	NM_007036.4	NP_008967.1	Q9NQ30	ESM1_HUMAN	endothelial cell-specific molecule 1	61	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				angiogenesis (GO:0001525)|positive regulation of cell proliferation (GO:0008284)|positive regulation of hepatocyte growth factor receptor signaling pathway (GO:1902204)|regulation of cell growth (GO:0001558)|sprouting angiogenesis (GO:0002040)	extracellular region (GO:0005576)	hepatocyte growth factor receptor binding (GO:0005171)|integrin binding (GO:0005178)	p.R61Q(1)		breast(1)|kidney(1)|large_intestine(4)|lung(4)	10		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)			AGTTTCTCCCCGCCCTGCAGC	0.597																																					p.R61Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G182A	5						.						67.0	62.0	64.0					5																	54281164		2203	4300	6503	54316921	SO:0001583	missense	11082	exon1			X89426	CCDS3963.1, CCDS47206.1	5q11	2008-02-05			ENSG00000164283	ENSG00000164283			3466	protein-coding gene	gene with protein product		601521				8702785	Standard	NM_001135604		Approved		uc003jpk.3	Q9NQ30	OTTHUMG00000097010	ENST00000381405.4:c.182G>A	5.37:g.54281164C>T	ENSP00000370812:p.Arg61Gln		54316921	NM_007036	B2R4G3|Q15330|Q3V4E3|Q96ES3	Missense_Mutation	SNP	ENST00000381405.4	37	CCDS3963.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.625154	0.46840	.	.	ENSG00000164283	ENST00000381405;ENST00000381403	T;T	0.63255	-0.03;-0.03	5.34	-6.47	0.01902	Insulin-like growth factor-binding protein, IGFBP (3);	0.952551	0.08713	N	0.904634	T	0.41213	0.1149	L	0.39020	1.185	0.09310	N	1	P;P	0.40681	0.727;0.727	B;B	0.33121	0.158;0.158	T	0.35301	-0.9794	10	0.39692	T	0.17	-18.7393	8.4371	0.32793	0.2703:0.3295:0.4002:0.0	.	61;61	Q3V4E3;Q9NQ30	.;ESM1_HUMAN	Q	61	ENSP00000370812:R61Q;ENSP00000370810:R61Q	ENSP00000370810:R61Q	R	-	2	0	ESM1	54316921	0.003000	0.15002	0.106000	0.21319	0.992000	0.81027	0.041000	0.13927	-0.974000	0.03550	-0.457000	0.05445	CGG		0.597	ESM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214099.2	NM_007036	
RAB3C	115827	broad.mit.edu	37	5	58021913	58021913	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr5:58021913A>G	ENST00000282878.4	+	3	506	c.337A>G	c.(337-339)Aca>Gca	p.T113A	RAB3C_ENST00000507977.1_3'UTR	NM_138453.2	NP_612462.1	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	113					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)	p.T113A(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		GTATGACATTACAAATGAAGA	0.383																																					p.T113A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A337G	5						.						119.0	114.0	116.0					5																	58021913		2203	4300	6503	58057670	SO:0001583	missense	115827	exon3			AY026936	CCDS3976.1	5q13	2008-02-05			ENSG00000152932	ENSG00000152932		"""RAB, member RAS oncogene"""	30269	protein-coding gene	gene with protein product		612829				12296628	Standard	NM_138453		Approved		uc003jrp.3	Q96E17	OTTHUMG00000097053	ENST00000282878.4:c.337A>G	5.37:g.58021913A>G	ENSP00000282878:p.Thr113Ala		58057670	NM_138453		Missense_Mutation	SNP	ENST00000282878.4	37	CCDS3976.1	.	.	.	.	.	.	.	.	.	.	A	18.66	3.672377	0.67928	.	.	ENSG00000152932	ENST00000282878	D	0.81821	-1.54	5.53	5.53	0.82687	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000014	D	0.86585	0.5968	M	0.92691	3.335	0.80722	D	1	B	0.22346	0.068	B	0.30782	0.12	D	0.85871	0.1416	10	0.59425	D	0.04	-14.5323	15.669	0.77258	1.0:0.0:0.0:0.0	.	113	Q96E17	RAB3C_HUMAN	A	113	ENSP00000282878:T113A	ENSP00000282878:T113A	T	+	1	0	RAB3C	58057670	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.282000	0.95840	2.092000	0.63282	0.460000	0.39030	ACA		0.383	RAB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214156.2	NM_138453	
HTR1A	3350	broad.mit.edu	37	5	63257289	63257289	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr5:63257289C>T	ENST00000323865.3	-	1	491	c.258G>A	c.(256-258)tcG>tcA	p.S86S	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	86					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)	p.S86S(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GCACCAACACCGACACCATGA	0.602																																					p.S86S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G258A	5						.						46.0	49.0	48.0					5																	63257289		2203	4300	6503	63293045	SO:0001819	synonymous_variant	3350	exon1			AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.258G>A	5.37:g.63257289C>T			63293045	NM_000524	Q6LAE7	Silent	SNP	ENST00000323865.3	37	CCDS34168.1																																																																																				0.602	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524	
CWC27	10283	broad.mit.edu	37	5	64100134	64100134	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr5:64100134delA	ENST00000381070.3	+	10	1076	c.859delA	c.(859-861)aaafs	p.K288fs	CWC27_ENST00000508024.1_Frame_Shift_Del_p.K288fs	NM_005869.2	NP_005860.2	Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	288					mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.K288fs*2(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						AAGAATTGCCAAAAAATTAAA	0.393																																					p.K287fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.859delA	5						.						72.0	75.0	74.0					5																	64100134		2203	4300	6503	64135890	SO:0001589	frameshift_variant	10283	exon10			AF039692	CCDS3982.2, CCDS75252.1	5q12.3	2010-01-26	2010-01-26	2010-01-26	ENSG00000153015	ENSG00000153015			10664	protein-coding gene	gene with protein product			"""serologically defined colon cancer antigen 10"""	SDCCAG10		9610721, 19941820	Standard	XM_005248399		Approved	NY-CO-10	uc003jtn.1	Q6UX04	OTTHUMG00000074069	ENST00000381070.3:c.859delA	5.37:g.64100134delA	ENSP00000370460:p.Lys288fs		64135890	NM_005869	O60529|O60530|Q96EM3	Frame_Shift_Del	DEL	ENST00000381070.3	37	CCDS3982.2																																																																																				0.393	CWC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157247.4	NM_005869	
MAST4	375449	broad.mit.edu	37	5	66460639	66460639	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr5:66460639delC	ENST00000403625.2	+	29	5927	c.5632delC	c.(5632-5634)cccfs	p.P1879fs	MAST4_ENST00000404260.3_Frame_Shift_Del_p.P1882fs|MAST4_ENST00000261569.7_Frame_Shift_Del_p.P1685fs|MAST4_ENST00000403666.1_Frame_Shift_Del_p.P1690fs|MAST4_ENST00000405643.1_Frame_Shift_Del_p.P1700fs	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1882						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.S1883fs*59(1)		breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TTGGTTCCTGCCCCCCAGCCG	0.547																																					p.P1689fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.5065delC	5						.						47.0	52.0	50.0					5																	66460639		1901	4108	6009	66496395	SO:0001589	frameshift_variant	375449	exon28			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.5632delC	5.37:g.66460639delC	ENSP00000385727:p.Pro1879fs		66496395	NM_015183	A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Frame_Shift_Del	DEL	ENST00000403625.2	37	CCDS54861.1																																																																																				0.547	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2		
MAST4	375449	broad.mit.edu	37	5	66461115	66461115	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr5:66461115G>T	ENST00000403625.2	+	29	6403	c.6108G>T	c.(6106-6108)tgG>tgT	p.W2036C	MAST4_ENST00000404260.3_Missense_Mutation_p.W2039C|MAST4_ENST00000261569.7_Missense_Mutation_p.W1842C|MAST4_ENST00000403666.1_Missense_Mutation_p.W1847C|MAST4_ENST00000405643.1_Missense_Mutation_p.W1857C	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2039						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.W2039C(1)		breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGAAAGCATGGGCGCCGGGTG	0.557																																					p.W1847C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5541T	5						.						23.0	29.0	27.0					5																	66461115		1883	4113	5996	66496871	SO:0001583	missense	375449	exon28			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.6108G>T	5.37:g.66461115G>T	ENSP00000385727:p.Trp2036Cys		66496871	NM_015183	A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	CCDS54861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.524|9.524	1.108971|1.108971	0.20714|0.20714	.|.	.|.	ENSG00000069020|ENSG00000069020	ENST00000443808|ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569	.|T;T;T;T;T	.|0.64260	.|-0.07;-0.07;-0.09;-0.08;-0.06	4.73|4.73	2.87|2.87	0.33458|0.33458	.|.	.|0.972957	.|0.08402	.|N	.|0.951242	T|T	0.48187|0.48187	0.1486|0.1486	N|N	0.14661|0.14661	0.345|0.345	0.19775|0.19775	N|N	0.99995|0.99995	.|B;B	.|0.06786	.|0.001;0.001	.|B;B	.|0.06405	.|0.001;0.002	T|T	0.42103|0.42103	-0.9471|-0.9471	5|10	.|0.54805	.|T	.|0.06	-0.0143|-0.0143	13.1134|13.1134	0.59288|0.59288	0.0:0.3245:0.6755:0.0|0.0:0.3245:0.6755:0.0	.|.	.|2039;1847	.|O15021;O15021-3	.|MAST4_HUMAN;.	C|C	1093|2039;2036;1847;1857;1857;1842	.|ENSP00000385048:W2039C;ENSP00000385727:W2036C;ENSP00000384313:W1847C;ENSP00000384099:W1857C;ENSP00000261569:W1842C	.|ENSP00000261569:W1842C	G|W	+|+	1|3	0|0	MAST4|MAST4	66496871|66496871	0.016000|0.016000	0.18221|0.18221	0.016000|0.016000	0.15963|0.15963	0.294000|0.294000	0.27393|0.27393	0.373000|0.373000	0.20484|0.20484	0.539000|0.539000	0.28788|0.28788	0.563000|0.563000	0.77884|0.77884	GGC|TGG		0.557	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2		
CCDC125	202243	broad.mit.edu	37	5	68588154	68588154	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr5:68588154G>A	ENST00000396496.2	-	10	1067	c.960C>T	c.(958-960)taC>taT	p.Y320Y	CCDC125_ENST00000460090.1_Intron|CCDC125_ENST00000396499.1_Silent_p.Y320Y|CCDC125_ENST00000383374.2_Intron|CCDC125_ENST00000511257.1_Silent_p.Y195Y			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	320						cytoplasm (GO:0005737)		p.Y320Y(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		CTGCCATCACGTAAGCTTCTT	0.373																																					p.Y320Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C960T	5						.						139.0	124.0	130.0					5																	68588154		2203	4299	6502	68623910	SO:0001819	synonymous_variant	202243	exon9			AB024691	CCDS4000.1, CCDS75255.1	5q13.2	2008-02-05			ENSG00000183323	ENSG00000183323			28924	protein-coding gene	gene with protein product		613781					Standard	XM_005248461		Approved	KENAE	uc003jvv.1	Q86Z20	OTTHUMG00000131259	ENST00000396496.2:c.960C>T	5.37:g.68588154G>A			68623910	NM_176816	Q86Z19	Silent	SNP	ENST00000396496.2	37	CCDS4000.1																																																																																				0.373	CCDC125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254027.4	NM_176816	
MAP1B	4131	broad.mit.edu	37	5	71492561	71492561	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	T	T	T	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr5:71492561T>A	ENST00000296755.7	+	5	3677	c.3379T>A	c.(3379-3381)Tcc>Acc	p.S1127T		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1127					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TATTGAGATATCCAGTGAGCC	0.527																																					p.S1127T	Melanoma(17;367 822 11631 31730 47712)											.	.	0			c.T3379A	5						.						54.0	52.0	52.0					5																	71492561		2203	4300	6503	71528317	SO:0001583	missense	4131	exon5			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.3379T>A	5.37:g.71492561T>A	ENSP00000296755:p.Ser1127Thr		71528317	NM_005909	A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	T	15.85	2.953713	0.53293	.	.	ENSG00000131711	ENST00000296755	T	0.04809	3.55	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000004	T	0.04452	0.0122	L	0.27053	0.805	0.52099	D	0.99994	P;P	0.42871	0.792;0.682	B;B	0.40165	0.321;0.321	T	0.45614	-0.9249	10	0.06757	T	0.87	-17.0146	16.1252	0.81386	0.0:0.0:0.0:1.0	.	1001;1127	A2BDK6;P46821	.;MAP1B_HUMAN	T	1127	ENSP00000296755:S1127T	ENSP00000296755:S1127T	S	+	1	0	MAP1B	71528317	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.698000	0.84413	2.214000	0.71695	0.533000	0.62120	TCC		0.527	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909	
CMYA5	202333	broad.mit.edu	37	5	79034572	79034572	+	Silent	SNP	C	C	T	rs140841478	byFrequency	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr5:79034572C>T	ENST00000446378.2	+	2	10015	c.9984C>T	c.(9982-9984)gaC>gaT	p.D3328D		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3328					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.D3328D(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TCACAGAGGACGTCAGAGTGG	0.483													C|||	13	0.00259585	0.0098	0.0	5008	,	,		20766	0.0		0.0	False		,,,				2504	0.0				p.D3328D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C9984T	5						.	C		38,4120		0,38,2041	80.0	82.0	81.0		9984	0.6	0.9	5	dbSNP_134	81	0,8426		0,0,4213	yes	coding-synonymous	CMYA5	NM_153610.3		0,38,6254	TT,TC,CC		0.0,0.9139,0.302		3328/4070	79034572	38,12546	2079	4213	6292	79070328	SO:0001819	synonymous_variant	202333	exon2			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.9984C>T	5.37:g.79034572C>T			79070328	NM_153610	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	ENST00000446378.2	37	CCDS47238.1																																																																																				0.483	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610	
VCAN	1462	broad.mit.edu	37	5	82808041	82808041	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr5:82808041G>A	ENST00000265077.3	+	6	1433	c.868G>A	c.(868-870)Ggc>Agc	p.G290S	VCAN_ENST00000513984.1_Missense_Mutation_p.G290S|VCAN_ENST00000342785.4_Missense_Mutation_p.G290S|VCAN_ENST00000502527.2_Missense_Mutation_p.G290S|VCAN_ENST00000512590.2_Missense_Mutation_p.G242S|VCAN_ENST00000343200.5_Missense_Mutation_p.G290S	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	290	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.G290S(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	ATGGAGGAACGGCTTTGACCA	0.602																																					p.G290S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G868A	5						.						82.0	71.0	75.0					5																	82808041		2203	4300	6503	82843797	SO:0001583	missense	1462	exon6			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.868G>A	5.37:g.82808041G>A	ENSP00000265077:p.Gly290Ser		82843797	NM_001164097	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.182343	0.57800	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000513960;ENST00000513984;ENST00000502527	T;T;T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63;1.63;1.63	5.49	3.67	0.42095	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.236140	0.29775	N	0.011230	T	0.60274	0.2256	M	0.86268	2.805	0.48288	D	0.999625	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.993;0.957;1.0;0.996	T	0.68096	-0.5499	10	0.87932	D	0	.	15.9056	0.79427	0.0:0.2564:0.7436:0.0	.	290;290;290;290;290	P13611-3;P13611-4;P13611-2;P13611;Q86W61	.;.;.;CSPG2_HUMAN;.	S	290;290;290;242;290;290;290	ENSP00000265077:G290S;ENSP00000340062:G290S;ENSP00000342768:G290S;ENSP00000425959:G242S;ENSP00000426251:G290S;ENSP00000426715:G290S;ENSP00000421362:G290S	ENSP00000265077:G290S	G	+	1	0	VCAN	82843797	1.000000	0.71417	0.149000	0.22428	0.001000	0.01503	9.808000	0.99193	0.647000	0.30713	-0.300000	0.09419	GGC		0.602	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385	
GPR98	84059	broad.mit.edu	37	5	90449130	90449130	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr5:90449130G>A	ENST00000405460.2	+	89	18813	c.18717G>A	c.(18715-18717)ccG>ccA	p.P6239P	GPR98_ENST00000425867.2_Silent_p.P1900P	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	6239					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.P6239P(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CCACGTTCCCGTCCTCTGGAG	0.493																																					p.P6239P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G18717A	5						.						61.0	61.0	61.0					5																	90449130		1898	4114	6012	90484886	SO:0001819	synonymous_variant	84059	exon89			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.18717G>A	5.37:g.90449130G>A			90484886	NM_032119	O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	CCDS47246.1																																																																																				0.493	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
KIAA0825	285600	broad.mit.edu	37	5	93859773	93859773	+	Silent	SNP	G	G	A	rs368170534		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr5:93859773G>A	ENST00000329378.7	-	4	411	c.162C>T	c.(160-162)tcC>tcT	p.S54S	KIAA0825_ENST00000513200.3_Silent_p.S54S|KIAA0825_ENST00000312498.7_Silent_p.S54S|KIAA0825_ENST00000427991.2_Silent_p.S54S	NM_173665.2	NP_775936.1	Q8IV33	K0825_HUMAN	KIAA0825	54								p.S54S(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						TGTTAATTTCGGACTGTATCT	0.328																																					p.S54S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C162T	5						.	G	,	0,4406		0,0,2203	116.0	114.0	114.0		162,162	-4.3	0.9	5		114	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	KIAA0825	NM_001145678.1,NM_173665.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	54/1276,54/325	93859773	1,13005	2203	4300	6503	93885529	SO:0001819	synonymous_variant	285600	exon4			BX648338	CCDS4070.1	5q15	2011-02-23	2011-02-23	2011-02-23	ENSG00000185261	ENSG00000185261			28532	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 36"""	C5orf36		12477932	Standard	NM_173665		Approved	DKFZp686F0372, MGC34713	uc011cuk.2	Q8IV33	OTTHUMG00000131331	ENST00000329378.7:c.162C>T	5.37:g.93859773G>A			93885529	NM_001145678	O94914|Q6ZNN2	Silent	SNP	ENST00000329378.7	37	CCDS4070.1																																																																																				0.328	KIAA0825-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371180.2	NM_173665	
TTC37	9652	broad.mit.edu	37	5	94839591	94839591	+	Silent	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr5:94839591A>G	ENST00000358746.2	-	31	3442	c.3144T>C	c.(3142-3144)ctT>ctC	p.L1048L		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1048						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)		p.L1048L(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						CTAACACTTCAAGGGGTGTTG	0.363																																					p.L1048L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T3144C	5						.						114.0	113.0	113.0					5																	94839591		2203	4300	6503	94865347	SO:0001819	synonymous_variant	9652	exon31			AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"""Tetratricopeptide (TTC) repeat domain containing"""	23639	protein-coding gene	gene with protein product		614589	"""KIAA0372"""	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.3144T>C	5.37:g.94839591A>G			94865347	NM_014639	O15077|Q6PJI3	Silent	SNP	ENST00000358746.2	37	CCDS4072.1																																																																																				0.363	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639	
RGMB	285704	broad.mit.edu	37	5	98129333	98129333	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr5:98129333C>T	ENST00000513185.1	+	3	1626	c.1190C>T	c.(1189-1191)gCc>gTc	p.A397V	RGMB_ENST00000308234.7_Missense_Mutation_p.A438V			Q6NW40	RGMB_HUMAN	repulsive guidance molecule family member b	397					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell adhesion (GO:0007155)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)	identical protein binding (GO:0042802)	p.A438V(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		GATGTGGAGGCCCTGCACCCA	0.567																																					p.A438V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1313T	5						.						99.0	100.0	100.0					5																	98129333		2070	4215	6285	98157233	SO:0001583	missense	285704	exon5			AK074887	CCDS47251.1	5q21.1	2013-11-06	2013-11-06		ENSG00000174136	ENSG00000174136			26896	protein-coding gene	gene with protein product		612687	"""RGM domain family, member B"""			19324014	Standard	NM_001012761		Approved	FLJ90406, DRAGON	uc003knc.3	Q6NW40	OTTHUMG00000162745	ENST00000513185.1:c.1190C>T	5.37:g.98129333C>T	ENSP00000423256:p.Ala397Val		98157233	NM_001012761	D6R9A0|Q8NC92	Missense_Mutation	SNP	ENST00000513185.1	37		.	.	.	.	.	.	.	.	.	.	C	8.990	0.977399	0.18812	.	.	ENSG00000174136	ENST00000308234;ENST00000513185	D;D	0.84873	-1.91;-1.91	5.62	5.62	0.85841	Repulsive guidance molecule, C-terminal (1);	0.103348	0.64402	D	0.000003	D	0.82815	0.5119	L	0.56769	1.78	0.39943	D	0.97443	B	0.26400	0.148	B	0.31101	0.124	T	0.78823	-0.2052	10	0.24483	T	0.36	-12.3402	13.8812	0.63684	0.0:0.927:0.0:0.073	.	397	Q6NW40	RGMB_HUMAN	V	438;397	ENSP00000308219:A438V;ENSP00000423256:A397V	ENSP00000308219:A438V	A	+	2	0	RGMB	98157233	0.292000	0.24362	0.900000	0.35374	0.090000	0.18270	0.851000	0.27751	2.635000	0.89317	0.655000	0.94253	GCC		0.567	RGMB-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370308.1	NM_173670	
GRM6	2916	broad.mit.edu	37	5	178413933	178413933	+	Missense_Mutation	SNP	C	C	T	rs111526982		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr5:178413933C>T	ENST00000517717.1	-	8	1444	c.1406G>A	c.(1405-1407)cGg>cAg	p.R469Q	GRM6_ENST00000231188.5_Missense_Mutation_p.R469Q|RP11-281O15.4_ENST00000519491.1_RNA			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	469					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)	p.R469Q(1)		NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GATGTCGTACCGCCCGGGCGC	0.627																																					p.R469Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1406A	5						.						82.0	66.0	71.0					5																	178413933		2203	4300	6503	178346539	SO:0001583	missense	2916	exon7			U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1406G>A	5.37:g.178413933C>T	ENSP00000430767:p.Arg469Gln		178346539	NM_000843		Missense_Mutation	SNP	ENST00000517717.1	37	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.894667	0.72639	.	.	ENSG00000113262	ENST00000319065;ENST00000231188;ENST00000517717	D;D	0.83335	-1.71;-1.71	4.74	4.74	0.60224	Extracellular ligand-binding receptor (1);	.	.	.	.	D	0.92864	0.7730	M	0.93550	3.43	0.58432	D	0.999999	D;D	0.76494	0.999;0.976	D;P	0.71656	0.974;0.844	D	0.94329	0.7560	9	0.59425	D	0.04	.	15.5896	0.76517	0.0:1.0:0.0:0.0	.	597;469	E7EX65;O15303	.;GRM6_HUMAN	Q	597;469;469	ENSP00000231188:R469Q;ENSP00000430767:R469Q	ENSP00000231188:R469Q	R	-	2	0	GRM6	178346539	1.000000	0.71417	0.724000	0.30704	0.598000	0.36846	7.652000	0.83633	2.339000	0.79563	0.462000	0.41574	CGG		0.627	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2		
ADGB	79747	broad.mit.edu	37	6	147136326	147136327	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr6:147136326_147136327insA	ENST00000397944.3	+	36	5053_5054	c.4977_4978insA	c.(4978-4980)aaafs	p.K1660fs	ADGB_ENST00000367488.1_3'UTR|ADGB_ENST00000367493.3_3'UTR	NM_024694.3	NP_078970.3	Q8N7X0	ADGB_HUMAN	androglobin	1660					oxygen transport (GO:0015671)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)	p.K607fs*>6(1)|p.K608fs*>6(1)		breast(1)|endometrium(2)|kidney(2)	5						CTGACACACAGAAAAAAAAGAA	0.441																																					p.Q1659fs												.	.	2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	large_intestine(2)	c.4977_4978insA	6						.																																			147178020	SO:0001589	frameshift_variant	79747	exon36			AK026774		6q24.2	2012-02-03	2012-02-03	2012-02-03	ENSG00000118492	ENSG00000118492			21212	protein-coding gene	gene with protein product		614630	"""chromosome 6 open reading frame 103"""	C6orf103		22115833	Standard	NM_024694		Approved	FLJ23121, dJ408K24.1	uc010khx.3	Q8N7X0	OTTHUMG00000015758	ENST00000397944.3:c.4985dupA	6.37:g.147136334_147136334dupA	ENSP00000381036:p.Lys1660fs		147178019	NM_024694	Q5T402|Q5T904|Q5T905	Frame_Shift_Ins	INS	ENST00000397944.3	37																																																																																					0.441	ADGB-009	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376350.2	NM_024694	
ASCC3	10973	broad.mit.edu	37	6	101166094	101166094	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr6:101166094C>T	ENST00000369162.2	-	12	2280	c.1936G>A	c.(1936-1938)Gga>Aga	p.G646R	ASCC3_ENST00000522650.1_Missense_Mutation_p.G646R	NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	646	Helicase ATP-binding 1. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)	p.G646R(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GCAGACAGTCCGAGAATCCTT	0.323																																					p.G646R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1936A	6						.						114.0	111.0	112.0					6																	101166094		2203	4300	6503	101272815	SO:0001583	missense	10973	exon12			AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.1936G>A	6.37:g.101166094C>T	ENSP00000358159:p.Gly646Arg		101272815	NM_006828	E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	C	33	5.206980	0.95033	.	.	ENSG00000112249	ENST00000369162;ENST00000522650	T;T	0.46451	0.87;0.87	5.51	5.51	0.81932	DEAD-like helicase (2);ATPase, AAA+ type, core (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.122741	0.53938	D	0.000041	T	0.80182	0.4576	H	0.99758	4.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89350	0.3660	10	0.87932	D	0	.	19.4031	0.94639	0.0:1.0:0.0:0.0	.	646;646	E7EW23;Q8N3C0	.;HELC1_HUMAN	R	646	ENSP00000358159:G646R;ENSP00000430769:G646R	ENSP00000358159:G646R	G	-	1	0	ASCC3	101272815	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	7.818000	0.86416	2.587000	0.87381	0.585000	0.79938	GGA		0.323	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828	
PDSS2	57107	broad.mit.edu	37	6	107475926	107475926	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr6:107475926C>T	ENST00000369037.4	-	8	1374	c.1097G>A	c.(1096-1098)cGt>cAt	p.R366H	PDSS2_ENST00000453874.2_Missense_Mutation_p.R264H	NM_020381.3	NP_065114.3	Q86YH6	DLP1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 2	366					isoprenoid biosynthetic process (GO:0008299)|protein heterotetramerization (GO:0051290)|regulation of body fluid levels (GO:0050878)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	protein heterodimerization activity (GO:0046982)|trans-hexaprenyltranstransferase activity (GO:0000010)|trans-octaprenyltranstransferase activity (GO:0050347)	p.R366H(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)	19	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)		TCCATGGTAACGACACAGGTC	0.438																																					p.R366H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1097A	6						.						80.0	75.0	77.0					6																	107475926		2203	4300	6503	107582619	SO:0001583	missense	57107	exon8			AF254956	CCDS5059.1	6q21	2006-02-14	2006-02-14	2006-02-14	ENSG00000164494	ENSG00000164494			23041	protein-coding gene	gene with protein product		610564	"""chromosome 6 open reading frame 210"""	C6orf210		16262699	Standard	NM_020381		Approved	bA59I9.3	uc003prt.2	Q86YH6	OTTHUMG00000059359	ENST00000369037.4:c.1097G>A	6.37:g.107475926C>T	ENSP00000358033:p.Arg366His		107582619	NM_020381	Q33DR4|Q4G158|Q5VU38|Q5VU39|Q9NR58	Missense_Mutation	SNP	ENST00000369037.4	37	CCDS5059.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.316219	0.60524	.	.	ENSG00000164494	ENST00000369037;ENST00000453874	T;T	0.64618	-0.11;-0.11	5.53	5.53	0.82687	Terpenoid synthase (2);	0.323586	0.39544	N	0.001321	T	0.72510	0.3469	M	0.71036	2.16	0.38027	D	0.935033	D;D	0.89917	1.0;0.987	D;P	0.69307	0.963;0.548	T	0.68172	-0.5479	10	0.27082	T	0.32	.	19.4936	0.95062	0.0:1.0:0.0:0.0	.	264;366	B4DKU5;Q86YH6	.;DLP1_HUMAN	H	366;264	ENSP00000358033:R366H;ENSP00000399691:R264H	ENSP00000358033:R366H	R	-	2	0	PDSS2	107582619	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.689000	0.54706	2.605000	0.88082	0.655000	0.94253	CGT		0.438	PDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131954.1	NM_020381	
HS3ST5	222537	broad.mit.edu	37	6	114379286	114379286	+	Missense_Mutation	SNP	C	C	T	rs371850649		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr6:114379286C>T	ENST00000312719.5	-	5	1364	c.176G>A	c.(175-177)cGc>cAc	p.R59H	RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000523087.1_RNA|HS3ST5_ENST00000411826.1_Missense_Mutation_p.R59H			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	59					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|negative regulation of coagulation (GO:0050819)|protein sulfation (GO:0006477)|regulation of viral entry into host cell (GO:0046596)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)	p.R59H(1)		breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		CTGCAGGGCGCGAAGTGGGAA	0.582																																					p.R59H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G176A	6						.	C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	34.0	32.0	33.0		176	5.8	0.1	6		33	0,8600		0,0,4300	no	missense	HS3ST5	NM_153612.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	59/347	114379286	1,13005	2203	4300	6503	114485979	SO:0001583	missense	222537	exon2			AF503292	CCDS34517.1	6q21	2011-11-16			ENSG00000249853	ENSG00000249853		"""Sulfotransferases, membrane-bound"""	19419	protein-coding gene	gene with protein product		609407				12138164	Standard	NM_153612		Approved	3-OST-5	uc003pwg.4	Q8IZT8	OTTHUMG00000015412	ENST00000312719.5:c.176G>A	6.37:g.114379286C>T	ENSP00000427888:p.Arg59His		114485979	NM_153612	A8K1J2|Q52LI2|Q8N285	Missense_Mutation	SNP	ENST00000312719.5	37	CCDS34517.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.328759	0.41197	2.27E-4	0.0	ENSG00000249853	ENST00000312719;ENST00000411826	T;T	0.51817	0.69;0.69	5.77	5.77	0.91146	.	0.055861	0.64402	D	0.000001	T	0.48732	0.1516	N	0.19112	0.55	0.58432	D	0.999992	D	0.65815	0.995	D	0.69479	0.964	T	0.50931	-0.8769	10	0.52906	T	0.07	.	20.3473	0.98799	0.0:1.0:0.0:0.0	.	59	Q8IZT8	HS3S5_HUMAN	H	59	ENSP00000427888:R59H;ENSP00000440332:R59H	ENSP00000427888:R59H	R	-	2	0	HS3ST5	114485979	1.000000	0.71417	0.081000	0.20488	0.064000	0.16182	7.034000	0.76511	2.884000	0.98904	0.655000	0.94253	CGC		0.582	HS3ST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041911.2	NM_153612	
TRDN	10345	broad.mit.edu	37	6	123588882	123588882	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr6:123588882G>A	ENST00000398178.3	-	32	1774	c.1753C>T	c.(1753-1755)Cga>Tga	p.R585*	TRDN_ENST00000334268.4_Nonsense_Mutation_p.R585*	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	585					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)	p.R585*(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		TCTCTTTCTCGATGTTCAGCT	0.279																																					p.R585X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1753T	6						.						45.0	45.0	45.0					6																	123588882		1794	4054	5848	123630581	SO:0001587	stop_gained	10345	exon32			U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.1753C>T	6.37:g.123588882G>A	ENSP00000381240:p.Arg585*		123630581	NM_006073	A5D6W5|F5H2W7|Q6NSB8	Nonsense_Mutation	SNP	ENST00000398178.3	37	CCDS55053.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.647767	0.67358	.	.	ENSG00000186439	ENST00000398178;ENST00000398161;ENST00000334268	.	.	.	4.07	3.18	0.36537	.	1.141660	0.06837	N	0.795077	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-0.4891	9.2582	0.37597	0.0:0.0:0.785:0.215	.	.	.	.	X	585;587;585	.	ENSP00000333984:R585X	R	-	1	2	TRDN	123630581	0.848000	0.29623	0.919000	0.36401	0.029000	0.11900	1.434000	0.34958	1.283000	0.44513	0.650000	0.86243	CGA		0.279	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			
LAMA2	3908	broad.mit.edu	37	6	129637000	129637000	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr6:129637000C>T	ENST00000421865.2	+	26	3878	c.3829C>T	c.(3829-3831)Cga>Tga	p.R1277*		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1277	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.R1277*(2)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AGTGATCATTCGAGGTGGGAC	0.438																																					p.R1277X												.	.	2	Substitution - Nonsense(2)	large_intestine(1)|endometrium(1)	c.C3829T	6						.						114.0	114.0	114.0					6																	129637000		2203	4300	6503	129678693	SO:0001587	stop_gained	3908	exon26			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.3829C>T	6.37:g.129637000C>T	ENSP00000400365:p.Arg1277*		129678693	NM_001079823	Q14736|Q5VUM2|Q93022	Nonsense_Mutation	SNP	ENST00000421865.2	37	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	43	10.442622	0.99406	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	.	.	.	5.55	4.66	0.58398	.	0.131649	0.50627	D	0.000117	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	12.9701	0.58508	0.4394:0.5606:0.0:0.0	.	.	.	.	X	1277	.	ENSP00000346769:R1277X	R	+	1	2	LAMA2	129678693	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.200000	0.65158	1.421000	0.47157	0.655000	0.94253	CGA		0.438	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		
TNFAIP3	7128	broad.mit.edu	37	6	138199856	138199856	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr6:138199856C>T	ENST00000237289.4	+	7	1340	c.1274C>T	c.(1273-1275)cCg>cTg	p.P425L		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	425	Interaction with RIPK1.|Interaction with TNIP1. {ECO:0000250}.				apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)|p.P425L(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		AACTCCAAGCCGGGCCCTGAG	0.597			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""																																p.P425L	GBM(130;153 1739 22295 28918 47987)		Rec	yes		6	6q23	7128	"""tumor necrosis factor, alpha-induced protein 3"""		L	.	.	26	Whole gene deletion(25)|Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(25)|large_intestine(1)	c.C1274T	6						.																																			138241549	SO:0001583	missense	7128	exon7			M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"""OTU domain containing"""	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.1274C>T	6.37:g.138199856C>T	ENSP00000237289:p.Pro425Leu		138241549	NM_006290	B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Missense_Mutation	SNP	ENST00000237289.4	37	CCDS5187.1	.	.	.	.	.	.	.	.	.	.	C	9.393	1.076024	0.20227	.	.	ENSG00000118503	ENST00000237289;ENST00000535574;ENST00000544646	T	0.21361	2.01	5.29	2.55	0.30701	.	0.708561	0.13281	N	0.399760	T	0.03564	0.0102	N	0.17082	0.46	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.45585	-0.9251	10	0.22706	T	0.39	-7.9786	8.0928	0.30811	0.0:0.6846:0.0:0.3154	.	425	P21580	TNAP3_HUMAN	L	425	ENSP00000237289:P425L	ENSP00000237289:P425L	P	+	2	0	TNFAIP3	138241549	0.004000	0.15560	0.012000	0.15200	0.810000	0.45777	0.511000	0.22739	0.233000	0.21120	0.655000	0.94253	CCG		0.597	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042414.1		
PLAGL1	5325	broad.mit.edu	37	6	144263369	144263369	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr6:144263369C>T	ENST00000360537.2	-	5	2497	c.584G>A	c.(583-585)cGc>cAc	p.R195H	PLAGL1_ENST00000354765.2_Missense_Mutation_p.R195H|PLAGL1_ENST00000416623.1_Missense_Mutation_p.R195H|PLAGL1_ENST00000367572.1_Missense_Mutation_p.R143H|PLAGL1_ENST00000392307.1_Missense_Mutation_p.R143H|PLAGL1_ENST00000429150.1_Missense_Mutation_p.R195H|PLAGL1_ENST00000367571.1_Missense_Mutation_p.R195H|PLAGL1_ENST00000437412.1_Missense_Mutation_p.R143H|PLAGL1_ENST00000444202.1_Missense_Mutation_p.R195H|PLAGL1_ENST00000392309.1_Missense_Mutation_p.R195H			Q9UM63	PLAL1_HUMAN	pleiomorphic adenoma gene-like 1	195					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R195H(1)		endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		GTGATCCTTGCGCCCAAATCT	0.562											OREG0017707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R143H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G428A	6						.						95.0	85.0	89.0					6																	144263369		2203	4300	6503	144305062	SO:0001583	missense	5325	exon6			U81992	CCDS5202.1, CCDS5203.1	6q24-q25	2013-01-08			ENSG00000118495	ENSG00000118495		"""Zinc fingers, C2H2-type"""	9046	protein-coding gene	gene with protein product		603044				9722527, 9671765	Standard	NM_006718		Approved	ZAC, LOT1	uc003qkf.3	Q9UM63	OTTHUMG00000015738	ENST00000360537.2:c.584G>A	6.37:g.144263369C>T	ENSP00000353734:p.Arg195His	1685	144305062	NM_001080955	B2RBA4|B2RCM8|E1P595|E1P597|O76019|Q7Z3V8|Q92981|Q96JR9|Q9UIZ0	Missense_Mutation	SNP	ENST00000360537.2	37	CCDS5202.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.890367	0.91889	.	.	ENSG00000118495	ENST00000360537;ENST00000354765;ENST00000444202;ENST00000429150;ENST00000392309;ENST00000416623;ENST00000437412;ENST00000392307;ENST00000367572;ENST00000367571;ENST00000417959	T;T;T;T;T;T;T;T;T;T;T	0.61040	0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14	5.76	5.76	0.90799	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000006	T	0.62307	0.2417	L	0.38733	1.17	0.53688	D	0.999979	D	0.67145	0.996	D	0.65573	0.936	T	0.65372	-0.6184	10	0.87932	D	0	-50.0108	18.9562	0.92659	0.0:1.0:0.0:0.0	.	195	Q9UM63	PLAL1_HUMAN	H	195;195;195;195;195;195;143;143;143;195;143	ENSP00000353734:R195H;ENSP00000346810:R195H;ENSP00000400929:R195H;ENSP00000398409:R195H;ENSP00000376125:R195H;ENSP00000400060:R195H;ENSP00000392418:R143H;ENSP00000376124:R143H;ENSP00000356544:R143H;ENSP00000356543:R195H;ENSP00000395960:R143H	ENSP00000346810:R195H	R	-	2	0	PLAGL1	144305062	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	7.768000	0.85345	2.710000	0.92621	0.655000	0.94253	CGC		0.562	PLAGL1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042541.1		
UTRN	7402	broad.mit.edu	37	6	145118978	145118978	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr6:145118978A>G	ENST00000367545.3	+	63	9097	c.9097A>G	c.(9097-9099)Ata>Gta	p.I3033V	UTRN_ENST00000367526.4_Missense_Mutation_p.I588V	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3033	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.I3033V(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TAAACCAGAAATAAGTGTGAA	0.368																																					p.I3033V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A9097G	6						.						77.0	80.0	79.0					6																	145118978		2203	4300	6503	145160671	SO:0001583	missense	7402	exon63			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.9097A>G	6.37:g.145118978A>G	ENSP00000356515:p.Ile3033Val		145160671	NM_007124	Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	A	11.04	1.521621	0.27211	.	.	ENSG00000152818	ENST00000367545;ENST00000367526	T;T	0.73789	-0.78;-0.78	5.67	4.49	0.54785	EF-hand domain, type 2 (1);EF-hand-like domain (1);	0.000000	0.56097	D	0.000025	T	0.57446	0.2054	L	0.35793	1.09	0.34733	D	0.729918	B	0.24882	0.113	B	0.36567	0.228	T	0.60606	-0.7230	10	0.66056	D	0.02	.	12.8549	0.57880	0.8636:0.1363:0.0:0.0	.	3033	P46939	UTRO_HUMAN	V	3033;588	ENSP00000356515:I3033V;ENSP00000356496:I588V	ENSP00000356496:I588V	I	+	1	0	UTRN	145160671	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	4.732000	0.62029	0.958000	0.37956	0.459000	0.35465	ATA		0.368	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1		
MTHFD1L	25902	broad.mit.edu	37	6	151270259	151270259	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr6:151270259G>A	ENST00000367321.3	+	16	1990	c.1716G>A	c.(1714-1716)acG>acA	p.T572T		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	572	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)	p.T572T(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		CTACCATCACGTGGCAGAGAG	0.507																																					p.T572T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1716A	6						.						70.0	63.0	65.0					6																	151270259		2203	4300	6503	151311952	SO:0001819	synonymous_variant	25902	exon16			BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"""10-formyl-THF synthetase"", ""mitochondrial C1-tetrahydrofolate synthase"", ""monofunctional C1-tetrahydrofolate synthase, mitochondrial"""	611427	"""formyltetrahydrofolate synthetase domain containing 1"""	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.1716G>A	6.37:g.151270259G>A			151311952	NM_015440	Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Silent	SNP	ENST00000367321.3	37	CCDS5228.1																																																																																				0.507	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042699.1	NM_015440	
SYNE1	23345	broad.mit.edu	37	6	152651360	152651360	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr6:152651360G>A	ENST00000367255.5	-	78	15061	c.14460C>T	c.(14458-14460)tcC>tcT	p.S4820S	SYNE1_ENST00000448038.1_Silent_p.S4749S|SYNE1_ENST00000265368.4_Silent_p.S4820S|SYNE1_ENST00000341594.5_Silent_p.S4567S|SYNE1_ENST00000423061.1_Silent_p.S4749S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4820					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.S4820S(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCCTGCCAGGGAGTGATACA	0.488										HNSCC(10;0.0054)																											p.S4749S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C14247T	6						.						112.0	95.0	101.0					6																	152651360		2203	4300	6503	152693053	SO:0001819	synonymous_variant	23345	exon77			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.14460C>T	6.37:g.152651360G>A			152693053	NM_033071	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	CCDS5236.2																																																																																				0.488	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SCAF8	22828	broad.mit.edu	37	6	155152162	155152162	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr6:155152162C>T	ENST00000367178.3	+	19	2823	c.2247C>T	c.(2245-2247)tcC>tcT	p.S749S	SCAF8_ENST00000417268.1_Silent_p.S749S|SCAF8_ENST00000367186.4_Silent_p.S815S|TIAM2_ENST00000461783.3_5'Flank	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	749	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)	p.S749S(2)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						TTGCTACTTCCGCTCTGCCAG	0.448																																					p.S749S												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.C2247T	6						.						78.0	78.0	78.0					6																	155152162		2203	4300	6503	155193854	SO:0001819	synonymous_variant	22828	exon19			AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"""RNA binding motif (RRM) containing"""	20959	protein-coding gene	gene with protein product			"""RNA binding motif protein 16"""	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.2247C>T	6.37:g.155152162C>T			155193854	NM_014892	B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Silent	SNP	ENST00000367178.3	37	CCDS5247.1																																																																																				0.448	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1	NM_014892	
SYNJ2	8871	broad.mit.edu	37	6	158490643	158490643	+	Silent	SNP	G	G	A	rs148150317		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr6:158490643G>A	ENST00000355585.4	+	14	1953	c.1878G>A	c.(1876-1878)tcG>tcA	p.S626S	SYNJ2_ENST00000367121.3_Silent_p.S626S|SYNJ2_ENST00000367122.2_Silent_p.S626S	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	626					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.S626S(2)		biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		TGTTGACTTCGGCACAGCTGG	0.453													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19754	0.0		0.0	False		,,,				2504	0.0				p.S626S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1878A	6						.	G	,	6,4400	11.4+/-27.6	0,6,2197	169.0	148.0	155.0		1167,1878	-1.5	1.0	6	dbSNP_134	155	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SYNJ2	NM_001178088.1,NM_003898.3	,	0,6,6497	AA,AG,GG		0.0,0.1362,0.0461	,	389/1260,626/1497	158490643	6,13000	2203	4300	6503	158410631	SO:0001819	synonymous_variant	8871	exon14			AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.1878G>A	6.37:g.158490643G>A			158410631	NM_003898	Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Silent	SNP	ENST00000355585.4	37	CCDS5254.1																																																																																				0.453	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2		
TMEM181	57583	broad.mit.edu	37	6	158994510	158994510	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr6:158994510G>A	ENST00000367090.3	+	2	489	c.478G>A	c.(478-480)Gtc>Atc	p.V160I		NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN	transmembrane protein 181	160					pathogenesis (GO:0009405)	integral component of membrane (GO:0016021)	toxic substance binding (GO:0015643)	p.V160I(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		CGTGTTTGTCGTCTTCTTCAT	0.577																																					p.V160I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G478A	6						.						105.0	102.0	103.0					6																	158994510		2117	4229	6346	158914498	SO:0001583	missense	57583	exon2			AB037844	CCDS43520.1	6q25.3	2012-08-10	2006-10-19	2006-10-19	ENSG00000146433	ENSG00000146433			20958	protein-coding gene	gene with protein product		613209	"""G protein-coupled receptor 178"", ""KIAA1423"""	KIAA1423, GPR178		16452613	Standard	NM_020823		Approved		uc003qrm.4	Q9P2C4	OTTHUMG00000015913	ENST00000367090.3:c.478G>A	6.37:g.158994510G>A	ENSP00000356057:p.Val160Ile		158914498	NM_020823	Q5VTU1	Missense_Mutation	SNP	ENST00000367090.3	37	CCDS43520.1	.	.	.	.	.	.	.	.	.	.	G	12.00	1.807527	0.31961	.	.	ENSG00000146433	ENST00000367090	.	.	.	5.06	5.06	0.68205	.	0.063724	0.64402	D	0.000008	T	0.17959	0.0431	N	0.24115	0.695	0.54753	D	0.999983	P	0.41929	0.765	B	0.28465	0.09	T	0.12268	-1.0554	9	0.10377	T	0.69	.	17.5723	0.87937	0.0:0.0:1.0:0.0	.	160	Q9P2C4	TM181_HUMAN	I	160	.	ENSP00000356057:V160I	V	+	1	0	TMEM181	158914498	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	5.354000	0.66040	2.500000	0.84329	0.557000	0.71058	GTC		0.577	TMEM181-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042873.1	NM_020823	
TCP1	6950	broad.mit.edu	37	6	160210491	160210491	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr6:160210491G>A	ENST00000321394.7	-	1	290	c.10C>T	c.(10-12)Cct>Tct	p.P4S	TCP1_ENST00000544255.1_5'UTR|TCP1_ENST00000546023.1_5'UTR|TCP1_ENST00000392168.2_5'UTR|MRPL18_ENST00000367034.4_5'Flank|TCP1_ENST00000420894.2_Missense_Mutation_p.P4S	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1	4					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|tubulin complex assembly (GO:0007021)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|nuclear heterochromatin (GO:0005720)|pericentriolar material (GO:0000242)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		ACGGACAAAGGCCCCTCCATC	0.672																																					p.P4S												.	.	0			c.C10T	6						.						54.0	50.0	51.0					6																	160210491		2203	4300	6503	160130481	SO:0001583	missense	6950	exon1			X52882	CCDS5269.1, CCDS43522.1	6q25-q27	2012-10-02			ENSG00000120438	ENSG00000120438		"""Heat Shock Proteins / Chaperonins"""	11655	protein-coding gene	gene with protein product		186980				3476253, 3653076	Standard	NM_030752		Approved	D6S230E, CCT1, Ccta	uc003qsr.3	P17987	OTTHUMG00000015937	ENST00000321394.7:c.10C>T	6.37:g.160210491G>A	ENSP00000317334:p.Pro4Ser		160130481	NM_030752	E1P5B2|Q15556|Q5TCM3	Missense_Mutation	SNP	ENST00000321394.7	37	CCDS5269.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.904436	0.92035	.	.	ENSG00000120438	ENST00000321394;ENST00000420894;ENST00000539756	T;T;T	0.67865	-0.27;-0.29;1.47	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.51092	0.1654	L	0.46741	1.465	0.80722	D	1	B;B	0.10296	0.003;0.003	B;B	0.08055	0.003;0.001	T	0.53578	-0.8419	10	0.56958	D	0.05	-13.0562	18.2465	0.89988	0.0:0.0:1.0:0.0	.	4;4	E7ERF2;P17987	.;TCPA_HUMAN	S	4	ENSP00000317334:P4S;ENSP00000390159:P4S;ENSP00000441345:P4S	ENSP00000317334:P4S	P	-	1	0	TCP1	160130481	1.000000	0.71417	0.990000	0.47175	0.861000	0.49209	4.331000	0.59273	2.604000	0.88044	0.650000	0.86243	CCT		0.672	TCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042917.2	NM_030752	
MRPL18	29074	broad.mit.edu	37	6	160212080	160212080	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr6:160212080G>A	ENST00000367034.4	+	2	283	c.161G>A	c.(160-162)cGg>cAg	p.R54Q	TCP1_ENST00000544255.1_5'Flank|TCP1_ENST00000546023.1_5'Flank|TCP1_ENST00000321394.7_5'Flank|TCP1_ENST00000392168.2_5'Flank|TCP1_ENST00000420894.2_5'Flank|MRPL18_ENST00000480842.1_3'UTR	NM_014161.3	NP_054880.2	Q9H0U6	RM18_HUMAN	mitochondrial ribosomal protein L18	54					rRNA import into mitochondrion (GO:0035928)|translation (GO:0006412)	extracellular space (GO:0005615)|mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	5S rRNA binding (GO:0008097)|structural constituent of ribosome (GO:0003735)	p.R54Q(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	11		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.79e-06)		CGGAACCCCCGGAACCTGGAG	0.562																																					p.R54Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G161A	6						.						28.0	33.0	32.0					6																	160212080		2203	4300	6503	160132070	SO:0001583	missense	29074	exon2			AF161556	CCDS5270.1	6q25.3	2012-09-13			ENSG00000112110	ENSG00000112110		"""Mitochondrial ribosomal proteins / large subunits"""	14477	protein-coding gene	gene with protein product		611831				11042152, 11551941	Standard	NM_014161		Approved	HSPC071	uc003qsw.4	Q9H0U6	OTTHUMG00000015942	ENST00000367034.4:c.161G>A	6.37:g.160212080G>A	ENSP00000356001:p.Arg54Gln		160132070	NM_014161	Q5TAP9|Q9NZW8	Missense_Mutation	SNP	ENST00000367034.4	37	CCDS5270.1	.	.	.	.	.	.	.	.	.	.	G	34	5.396393	0.96009	.	.	ENSG00000112110	ENST00000367034	T	0.65178	-0.14	5.33	4.45	0.53987	.	0.000000	0.85682	D	0.000000	T	0.64994	0.2649	M	0.74258	2.255	0.80722	D	1	D	0.76494	0.999	P	0.52598	0.703	T	0.72994	-0.4122	10	0.87932	D	0	-19.7999	16.022	0.80506	0.0:0.1347:0.8653:0.0	.	54	Q9H0U6	RM18_HUMAN	Q	54	ENSP00000356001:R54Q	ENSP00000356001:R54Q	R	+	2	0	MRPL18	160132070	1.000000	0.71417	0.988000	0.46212	0.983000	0.72400	7.169000	0.77578	1.444000	0.47605	0.655000	0.94253	CGG		0.562	MRPL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042925.1		
MRPL18	29074	broad.mit.edu	37	6	160218519	160218519	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr6:160218519A>G	ENST00000367034.4	+	3	562	c.440A>G	c.(439-441)cAa>cGa	p.Q147R	PNLDC1_ENST00000392167.3_5'Flank|PNLDC1_ENST00000610273.1_5'Flank|MRPL18_ENST00000480842.1_3'UTR	NM_014161.3	NP_054880.2	Q9H0U6	RM18_HUMAN	mitochondrial ribosomal protein L18	147					rRNA import into mitochondrion (GO:0035928)|translation (GO:0006412)	extracellular space (GO:0005615)|mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	5S rRNA binding (GO:0008097)|structural constituent of ribosome (GO:0003735)	p.Q147R(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	11		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.79e-06)		ATGGTCTACCAACCAACCCCG	0.428																																					p.Q147R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A440G	6						.						87.0	80.0	82.0					6																	160218519		2203	4300	6503	160138509	SO:0001583	missense	29074	exon3			AF161556	CCDS5270.1	6q25.3	2012-09-13			ENSG00000112110	ENSG00000112110		"""Mitochondrial ribosomal proteins / large subunits"""	14477	protein-coding gene	gene with protein product		611831				11042152, 11551941	Standard	NM_014161		Approved	HSPC071	uc003qsw.4	Q9H0U6	OTTHUMG00000015942	ENST00000367034.4:c.440A>G	6.37:g.160218519A>G	ENSP00000356001:p.Gln147Arg		160138509	NM_014161	Q5TAP9|Q9NZW8	Missense_Mutation	SNP	ENST00000367034.4	37	CCDS5270.1	.	.	.	.	.	.	.	.	.	.	A	5.489	0.275266	0.10403	.	.	ENSG00000112110	ENST00000367034	T	0.41400	1.0	4.82	4.82	0.62117	.	0.261649	0.36482	N	0.002565	T	0.07098	0.0180	N	0.03281	-0.365	0.09310	N	0.999992	B	0.06786	0.001	B	0.11329	0.006	T	0.16453	-1.0402	10	0.25751	T	0.34	-10.0165	7.356	0.26719	0.8368:0.0:0.1632:0.0	.	147	Q9H0U6	RM18_HUMAN	R	147	ENSP00000356001:Q147R	ENSP00000356001:Q147R	Q	+	2	0	MRPL18	160138509	0.987000	0.35691	0.021000	0.16686	0.582000	0.36321	3.677000	0.54619	2.014000	0.59158	0.533000	0.62120	CAA		0.428	MRPL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042925.1		
PLG	5340	broad.mit.edu	37	6	161139777	161139777	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr6:161139777T>C	ENST00000308192.9	+	9	1066	c.1003T>C	c.(1003-1005)Tgc>Cgc	p.C335R		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	335	Kringle 3. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.C335R(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GGCCCCATGGTGCCATACAAC	0.468																																					p.C335R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1003C	6						.						85.0	85.0	85.0					6																	161139777		2203	4300	6503	161059767	SO:0001583	missense	5340	exon9			M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.1003T>C	6.37:g.161139777T>C	ENSP00000308938:p.Cys335Arg		161059767	NM_000301	Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	ENST00000308192.9	37	CCDS5279.1	.	.	.	.	.	.	.	.	.	.	T	16.12	3.034275	0.54896	.	.	ENSG00000122194	ENST00000308192	D	0.84873	-1.91	5.2	5.2	0.72013	Kringle (4);Kringle-like fold (1);Kringle, conserved site (1);	0.000000	0.42964	U	0.000623	D	0.95896	0.8664	H	0.99863	4.86	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97647	1.0152	10	0.87932	D	0	.	14.1851	0.65601	0.0:0.0:0.0:1.0	.	335	P00747	PLMN_HUMAN	R	335	ENSP00000308938:C335R	ENSP00000308938:C335R	C	+	1	0	PLG	161059767	1.000000	0.71417	0.989000	0.46669	0.142000	0.21351	6.919000	0.75793	2.187000	0.69744	0.460000	0.39030	TGC		0.468	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301	
RPS6KA2	6196	broad.mit.edu	37	6	166845915	166845915	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr6:166845915G>A	ENST00000265678.4	-	15	1619	c.1396C>T	c.(1396-1398)Cac>Tac	p.H466Y	RPS6KA2_ENST00000510118.1_Missense_Mutation_p.H491Y|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.H474Y|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.H377Y|RPS6KA2_ENST00000481261.2_Missense_Mutation_p.H377Y	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	466	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)	p.H474Y(1)|p.H466Y(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		ATGTTCGGGTGCTGGCCGTAC	0.512																																					p.H466Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1396T	6						.						148.0	118.0	128.0					6																	166845915		2203	4300	6503	166765905	SO:0001583	missense	6196	exon15			L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"""ribosomal protein S6 kinase, 90kD, polypeptide 2"""			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.1396C>T	6.37:g.166845915G>A	ENSP00000265678:p.His466Tyr		166765905	NM_021135	B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Missense_Mutation	SNP	ENST00000265678.4	37	CCDS5294.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.726740	0.89298	.	.	ENSG00000071242	ENST00000265678;ENST00000510118;ENST00000503859;ENST00000481261;ENST00000405189	T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2	4.79	4.79	0.61399	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.91415	0.7291	H	0.96943	3.91	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.99	D;D;D	0.87578	0.998;0.996;0.973	D	0.94058	0.7324	10	0.87932	D	0	.	16.9981	0.86373	0.0:0.0:1.0:0.0	.	491;474;466	F2Z2J1;Q15349-3;Q15349	.;.;KS6A2_HUMAN	Y	466;491;474;377;377	ENSP00000265678:H466Y;ENSP00000422435:H491Y;ENSP00000427015:H474Y;ENSP00000422484:H377Y;ENSP00000386050:H377Y	ENSP00000265678:H466Y	H	-	1	0	RPS6KA2	166765905	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	8.881000	0.92415	2.478000	0.83669	0.650000	0.86243	CAC		0.512	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	NM_021135	
MLLT4	4301	broad.mit.edu	37	6	168344088	168344088	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr6:168344088C>T	ENST00000447894.2	+	24	3151	c.3151C>T	c.(3151-3153)Cgt>Tgt	p.R1051C	MLLT4_ENST00000392108.3_Missense_Mutation_p.R1051C|MLLT4_ENST00000366806.2_Missense_Mutation_p.R1051C|MLLT4_ENST00000392112.1_Missense_Mutation_p.R1034C|MLLT4_ENST00000507679.1_3'UTR|MLLT4_ENST00000351017.4_Missense_Mutation_p.R1058C|MLLT4_ENST00000400822.3_Missense_Mutation_p.R1050C|MLLT4_ENST00000344191.4_Missense_Mutation_p.R1051C			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1051	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)	p.R1035C(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CTAGGATGGACGTCTAGCTGC	0.453			T	MLL	AL																																p.R1051C			Dom	yes		6	6q27	4301	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3151T	6						.						235.0	213.0	221.0					6																	168344088		2203	4300	6503	168086937	SO:0001583	missense	4301	exon24			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.3151C>T	6.37:g.168344088C>T	ENSP00000404595:p.Arg1051Cys		168086937	NM_001040000	O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	37		.	.	.	.	.	.	.	.	.	.	C	22.1	4.242099	0.79912	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;1.68;0.89;0.89	5.18	5.18	0.71444	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.70657	0.3249	H	0.96111	3.77	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;1.0	T	0.80672	-0.1278	10	0.87932	D	0	0.3793	14.4408	0.67314	0.1478:0.8522:0.0:0.0	.	1051;1050;1051;1035	P55196;P55196-5;P55196-6;P55196-2	AFAD_HUMAN;.;.;.	C	1051;1058;1051;1051;1034;1051;1050;1051	ENSP00000341118:R1051C;ENSP00000252692:R1058C;ENSP00000375956:R1051C;ENSP00000355771:R1051C;ENSP00000375960:R1034C;ENSP00000383623:R1050C;ENSP00000404595:R1051C	ENSP00000345834:R1051C	R	+	1	0	MLLT4	168086937	1.000000	0.71417	0.983000	0.44433	0.972000	0.66771	4.288000	0.59007	2.411000	0.81874	0.650000	0.86243	CGT		0.453	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936	
RIPK1	8737	broad.mit.edu	37	6	3083542	3083542	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr6:3083542A>G	ENST00000259808.4	+	5	981	c.683A>G	c.(682-684)tAt>tGt	p.Y228C	RIPK1_ENST00000479389.1_3'UTR|RIPK1_ENST00000380409.2_Missense_Mutation_p.Y228C|RIPK1_ENST00000541791.1_Missense_Mutation_p.Y182C			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	228	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|amyloid fibril formation (GO:1990000)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to tumor necrosis factor (GO:0071356)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of ATP:ADP antiporter activity (GO:0070926)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to tumor necrosis factor (GO:0034612)|ripoptosome assembly (GO:0097343)|ripoptosome assembly involved in necroptotic process (GO:1901026)|T cell apoptotic process (GO:0070231)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|death domain binding (GO:0070513)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.Y228C(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				AAGGagccatatgaaagtaag	0.468																																					p.Y228C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A683G	6						.						64.0	59.0	61.0					6																	3083542		2203	4300	6503	3028541	SO:0001583	missense	8737	exon4			U25994	CCDS4482.1	6p25.2	2008-02-05			ENSG00000137275	ENSG00000137275			10019	protein-coding gene	gene with protein product		603453				7538908, 8612133	Standard	XM_005249458		Approved	RIP	uc003mux.3	Q13546	OTTHUMG00000014134	ENST00000259808.4:c.683A>G	6.37:g.3083542A>G	ENSP00000259808:p.Tyr228Cys		3028541	NM_003804	A0AV89|B2RAG1|B4E3F9|Q13180|Q59H33	Missense_Mutation	SNP	ENST00000259808.4	37	CCDS4482.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.234745	0.79800	.	.	ENSG00000137275	ENST00000259808;ENST00000541791;ENST00000380409	T;T;T	0.64803	-0.12;-0.12;-0.12	5.55	5.55	0.83447	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.71945	0.3400	M	0.64404	1.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.76386	-0.2978	10	0.87932	D	0	-21.4392	15.6933	0.77473	1.0:0.0:0.0:0.0	.	182;228	Q13546-2;Q13546	.;RIPK1_HUMAN	C	228;182;228	ENSP00000259808:Y228C;ENSP00000442294:Y182C;ENSP00000369773:Y228C	ENSP00000259808:Y228C	Y	+	2	0	RIPK1	3028541	1.000000	0.71417	0.845000	0.33349	0.915000	0.54546	8.832000	0.92079	2.105000	0.64084	0.460000	0.39030	TAT		0.468	RIPK1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039659.2	NM_003804	
DSP	1832	broad.mit.edu	37	6	7581258	7581258	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr6:7581258T>C	ENST00000379802.3	+	23	5176	c.4835T>C	c.(4834-4836)aTc>aCc	p.I1612T	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1612	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.I1612T(1)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GCCATCAAAATCACCAACCTG	0.577																																					p.I1612T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4835C	6						.						41.0	37.0	38.0					6																	7581258		2200	4300	6500	7526257	SO:0001583	missense	1832	exon23			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.4835T>C	6.37:g.7581258T>C	ENSP00000369129:p.Ile1612Thr		7526257	NM_004415	B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	T	14.47	2.544984	0.45280	.	.	ENSG00000096696	ENST00000379802	T	0.73363	-0.74	5.91	5.91	0.95273	.	0.189633	0.36066	N	0.002804	T	0.53514	0.1801	L	0.46157	1.445	0.80722	D	1	P	0.36282	0.546	B	0.32864	0.154	T	0.57376	-0.7822	10	0.17832	T	0.49	.	16.3512	0.83208	0.0:0.0:0.0:1.0	.	1612	P15924	DESP_HUMAN	T	1612	ENSP00000369129:I1612T	ENSP00000369129:I1612T	I	+	2	0	DSP	7526257	1.000000	0.71417	0.984000	0.44739	0.998000	0.95712	7.633000	0.83260	2.266000	0.75297	0.533000	0.62120	ATC		0.577	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415	
DSP	1832	broad.mit.edu	37	6	7585530	7585530	+	Missense_Mutation	SNP	G	G	A	rs555167928		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr6:7585530G>A	ENST00000379802.3	+	24	8376	c.8035G>A	c.(8035-8037)Gtg>Atg	p.V2679M	DSP_ENST00000418664.2_Missense_Mutation_p.V2080M	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2679	4.5 X 38 AA tandem repeats (Domain C).|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.V2679M(1)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CTCCCAGGGTGTGATTGACCA	0.582													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18595	0.0		0.0	False		,,,				2504	0.0				p.V2080M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6238A	6						.						116.0	113.0	114.0					6																	7585530		2203	4300	6503	7530529	SO:0001583	missense	1832	exon24			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.8035G>A	6.37:g.7585530G>A	ENSP00000369129:p.Val2679Met		7530529	NM_001008844	B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	G	9.632	1.136752	0.21123	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.69435	-0.4;-0.4	5.5	2.67	0.31697	.	0.547984	0.16458	N	0.213556	T	0.56396	0.1982	L	0.37697	1.125	0.24072	N	0.995974	D;B	0.63046	0.992;0.361	P;B	0.60541	0.876;0.124	T	0.52147	-0.8614	10	0.87932	D	0	.	10.2291	0.43245	0.2334:0.4243:0.3423:0.0	.	2127;2679	Q4LE79;P15924	.;DESP_HUMAN	M	2679;2080	ENSP00000369129:V2679M;ENSP00000396591:V2080M	ENSP00000369129:V2679M	V	+	1	0	DSP	7530529	0.842000	0.29525	0.383000	0.26132	0.923000	0.55619	1.086000	0.30853	0.341000	0.23771	-0.171000	0.13296	GTG		0.582	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415	
KDM1B	221656	broad.mit.edu	37	6	18163080	18163080	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr6:18163080G>A	ENST00000297792.5	+	5	407	c.230G>A	c.(229-231)gGc>gAc	p.G77D	KDM1B_ENST00000388870.2_Missense_Mutation_p.G77D|KDM1B_ENST00000397244.1_Missense_Mutation_p.G77D|KDM1B_ENST00000546309.2_Intron			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	77					DNA methylation involved in gamete generation (GO:0043046)|histone H3-K4 demethylation (GO:0034720)|multicellular organismal development (GO:0007275)|regulation of DNA methylation (GO:0044030)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-monomethyl-K4 specific) (GO:0034649)|oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)	p.G77D(1)		breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						GCCAAAAATGGCTACACCTCC	0.368																																					p.G77D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G230A	6						.						118.0	114.0	115.0					6																	18163080		2203	4300	6503	18271059	SO:0001583	missense	221656	exon5			AK125318	CCDS34343.1	6p22.3	2011-07-01	2009-09-29	2009-09-29	ENSG00000165097	ENSG00000165097		"""Chromatin-modifying enzymes / K-demethylases"""	21577	protein-coding gene	gene with protein product		613081	"""amine oxidase, flavin containing 1"", ""chromosome 6 open reading frame 193"", ""amine oxidase (flavin containing) domain 1"""	C6orf193, AOF1		19407342, 19727073	Standard	NM_153042		Approved	FLJ34109, FLJ33898, dJ298J15.2, bA204B7.3, FLJ43328, LSD2	uc003ncn.1	Q8NB78	OTTHUMG00000014316	ENST00000297792.5:c.230G>A	6.37:g.18163080G>A	ENSP00000297792:p.Gly77Asp		18271059	NM_153042	A2A2C5|A2A2C6|Q5TGV3|Q6AI15|Q6ZUU4|Q8N258|Q96EL7	Missense_Mutation	SNP	ENST00000297792.5	37	CCDS34343.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.582754	0.86748	.	.	ENSG00000165097	ENST00000388870;ENST00000397244;ENST00000297792;ENST00000388869	T;T;T	0.32988	1.47;1.43;1.44	5.84	5.84	0.93424	.	0.200705	0.51477	D	0.000083	T	0.50394	0.1613	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.46721	-0.9171	10	0.87932	D	0	-5.9154	20.563	0.99327	0.0:0.0:1.0:0.0	.	77	A2A2C6	.	D	77	ENSP00000373522:G77D;ENSP00000380419:G77D;ENSP00000297792:G77D	ENSP00000297792:G77D	G	+	2	0	KDM1B	18271059	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.863000	0.92288	2.937000	0.99478	0.650000	0.86243	GGC		0.368	KDM1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277080.1	NM_153042	
HIST1H2BD	3017	broad.mit.edu	37	6	26158582	26158582	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr6:26158582T>A	ENST00000289316.2	+	1	209	c.185T>A	c.(184-186)aTc>aAc	p.I62N	HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.I62N	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	62					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.I62N(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						GCAATGGGGATCATGAATTCC	0.567																																					p.I62N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T185A	6						.						189.0	176.0	181.0					6																	26158582		2203	4300	6503	26266561	SO:0001583	missense	3017	exon1			M60751	CCDS4587.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000158373	ENSG00000158373		"""Histones / Replication-dependent"""	4747	protein-coding gene	gene with protein product		602799	"""H2B histone family, member B"", ""histone 1, H2bd"""	H2BFB		1916825, 12408966	Standard	NM_021063		Approved	H2B/b	uc003ngr.3	P58876	OTTHUMG00000014426	ENST00000289316.2:c.185T>A	6.37:g.26158582T>A	ENSP00000289316:p.Ile62Asn		26266561	NM_021063		Missense_Mutation	SNP	ENST00000289316.2	37	CCDS4587.1	.	.	.	.	.	.	.	.	.	.	.	23.0	4.359777	0.82353	.	.	ENSG00000158373	ENST00000377777;ENST00000289316	T;T	0.27890	1.64;1.64	5.19	5.19	0.71726	Histone-fold (2);Histone core (1);	0.000000	0.42294	D	0.000722	T	0.64461	0.2600	H	0.98407	4.225	0.47819	D	0.999522	D	0.89917	1.0	D	0.91635	0.999	T	0.77710	-0.2486	10	0.87932	D	0	.	11.4178	0.49962	0.1351:0.0:0.0:0.8648	.	62	P58876	H2B1D_HUMAN	N	62	ENSP00000367008:I62N;ENSP00000289316:I62N	ENSP00000289316:I62N	I	+	2	0	HIST1H2BD	26266561	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	5.047000	0.64232	2.275000	0.75901	0.529000	0.55759	ATC		0.567	HIST1H2BD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040088.1	NM_021063	
HIST1H4E	8367	broad.mit.edu	37	6	26204948	26204948	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	A	A	A	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr6:26204948A>G	ENST00000360441.4	+	1	91	c.76A>G	c.(76-78)Aac>Gac	p.N26D		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	26					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				CCTGCGAGATAACATCCAGGG	0.582																																					p.N26D												.	.	0			c.A76G	6						.						85.0	84.0	84.0					6																	26204948		2203	4300	6503	26312927	SO:0001583	missense	8367	exon1			Z80787	CCDS4593.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198518	ENSG00000276966		"""Histones / Replication-dependent"""	4790	protein-coding gene	gene with protein product		602830	"""H4 histone family, member J"", ""histone 1, H4e"""	H4FJ		9119399, 12408966	Standard	NM_003545		Approved	H4/j	uc003ngy.3	P62805	OTTHUMG00000014441	ENST00000360441.4:c.76A>G	6.37:g.26204948A>G	ENSP00000353624:p.Asn26Asp		26312927	NM_003545	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000360441.4	37	CCDS4593.1	.	.	.	.	.	.	.	.	.	.	.	16.24	3.068494	0.55539	.	.	ENSG00000198518	ENST00000360441	.	.	.	2.2	2.2	0.27929	.	0.000000	0.85682	U	0.000000	T	0.55146	0.1902	.	.	.	0.47778	D	0.999515	.	.	.	.	.	.	T	0.61729	-0.7003	6	0.87932	D	0	.	9.8663	0.41145	1.0:0.0:0.0:0.0	.	.	.	.	D	26	.	ENSP00000353624:N26D	N	+	1	0	HIST1H4E	26312927	1.000000	0.71417	0.654000	0.29608	0.011000	0.07611	8.731000	0.91529	1.246000	0.43901	0.533000	0.62120	AAC		0.582	HIST1H4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040104.1	NM_003545	
HIST1H2BK	85236	broad.mit.edu	37	6	27114360	27114360	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr6:27114360C>T	ENST00000356950.1	-	1	217	c.218G>A	c.(217-219)cGc>cAc	p.R73H	MIR3143_ENST00000584253.1_RNA|HIST1H2BK_ENST00000396891.4_Missense_Mutation_p.R73H|HIST1H2AH_ENST00000377459.1_5'Flank			O60814	H2B1K_HUMAN	histone cluster 1, H2bk	73					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R73H(2)		breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						ACCCGCGATGCGTTCGAAGAT	0.607																																					p.R73H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G218A	6						.						154.0	145.0	148.0					6																	27114360		2203	4300	6503	27222339	SO:0001583	missense	85236	exon1			AJ223352	CCDS4621.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000197903	ENSG00000197903		"""Histones / Replication-dependent"""	13954	protein-coding gene	gene with protein product		615045	"""H2B histone family, member T"", ""histone 1, H2bk"""	H2BFT		12408966	Standard	NM_080593		Approved	H2BFAiii	uc003nix.2	O60814	OTTHUMG00000014473	ENST00000356950.1:c.218G>A	6.37:g.27114360C>T	ENSP00000349430:p.Arg73His		27222339	NM_080593	A8K7P7|Q2VPI7	Missense_Mutation	SNP	ENST00000356950.1	37	CCDS4621.1	.	.	.	.	.	.	.	.	.	.	.	16.22	3.061931	0.55432	.	.	ENSG00000197903	ENST00000396891;ENST00000356950	T;T	0.69561	-0.41;-0.41	3.82	3.82	0.43975	Histone-fold (2);Histone core (1);	.	.	.	.	T	0.59224	0.2178	M	0.88842	2.985	0.53688	D	0.999971	P	0.34684	0.463	B	0.28139	0.086	T	0.70044	-0.4980	9	0.49607	T	0.09	.	14.0417	0.64678	0.0:1.0:0.0:0.0	.	73	O60814	H2B1K_HUMAN	H	73	ENSP00000380100:R73H;ENSP00000349430:R73H	ENSP00000349430:R73H	R	-	2	0	HIST1H2BK	27222339	1.000000	0.71417	1.000000	0.80357	0.454000	0.32378	4.223000	0.58587	2.080000	0.62538	0.650000	0.86243	CGC		0.607	HIST1H2BK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040141.1	NM_080593	
ZNF184	7738	broad.mit.edu	37	6	27419467	27419467	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr6:27419467C>T	ENST00000211936.6	-	6	2155	c.1871G>A	c.(1870-1872)cGa>cAa	p.R624Q	ZNF184_ENST00000377419.1_Missense_Mutation_p.R624Q	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	624					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R624Q(1)		breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TGAACAATGTCGAAAGGCTTT	0.418																																					p.R624Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1871A	6						.						181.0	165.0	170.0					6																	27419467		2203	4300	6503	27527446	SO:0001583	missense	7738	exon6			U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"""Zinc fingers, C2H2-type"", ""-"""	12975	protein-coding gene	gene with protein product		602277	"""zinc finger protein 184 (Kruppel-like)"""				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.1871G>A	6.37:g.27419467C>T	ENSP00000211936:p.Arg624Gln		27527446	NM_007149	B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	37	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.027692	0.35797	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	T;T	0.07444	3.19;3.19	5.18	4.29	0.51040	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41712	D	0.000830	T	0.02230	0.0069	L	0.42581	1.335	0.09310	N	0.999998	P	0.43885	0.82	B	0.34038	0.174	T	0.42682	-0.9437	10	0.31617	T	0.26	.	7.4532	0.27250	0.0:0.741:0.1686:0.0905	.	624	Q99676	ZN184_HUMAN	Q	624;624;540	ENSP00000211936:R624Q;ENSP00000366636:R624Q	ENSP00000211936:R624Q	R	-	2	0	ZNF184	27527446	0.000000	0.05858	0.873000	0.34254	0.992000	0.81027	-1.443000	0.02405	2.696000	0.92011	0.591000	0.81541	CGA		0.418	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149	
OR2J3	442186	broad.mit.edu	37	6	29079940	29079940	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr6:29079940G>A	ENST00000377169.1	+	1	273	c.273G>A	c.(271-273)ccG>ccA	p.P91P		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	91						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P91P(1)		endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						TCTGGGGCCCGGAAAAGACCA	0.483																																					p.P91P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G273A	6						.						189.0	196.0	194.0					6																	29079940		1251	2558	3809	29187919	SO:0001819	synonymous_variant	442186	exon1				CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701		"""GPCR / Class A : Olfactory receptors"""	8261	protein-coding gene	gene with protein product		615016					Standard	NM_001005216		Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.273G>A	6.37:g.29079940G>A			29187919	NM_001005216	B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Silent	SNP	ENST00000377169.1	37	CCDS43433.1																																																																																				0.483	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076132.2		
GABBR1	2550	broad.mit.edu	37	6	29572334	29572334	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr6:29572334G>A	ENST00000377034.4	-	22	2984	c.2649C>T	c.(2647-2649)aaC>aaT	p.N883N	GABBR1_ENST00000377012.4_Silent_p.N766N|GABBR1_ENST00000377016.4_Silent_p.N821N|GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000355973.3_Silent_p.N766N	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	883					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)	p.N883N(1)		endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	TCTCCTCCTCGTTGTTGTTGG	0.587																																					p.N821N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2463T	6						.						189.0	163.0	172.0					6																	29572334		1511	2709	4220	29680313	SO:0001819	synonymous_variant	2550	exon21			Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4070	protein-coding gene	gene with protein product	"""GABA-B receptor"""	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.2649C>T	6.37:g.29572334G>A			29680313	NM_021904	B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Silent	SNP	ENST00000377034.4	37	CCDS4663.1																																																																																				0.587	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3		
MDC1	9656	broad.mit.edu	37	6	30671027	30671027	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr6:30671027G>A	ENST00000376406.3	-	12	6366	c.5719C>T	c.(5719-5721)Cgg>Tgg	p.R1907W	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.R1643W	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1907	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.|Required for nuclear localization (NLS2).				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)	p.R1907W(1)		breast(2)|kidney(1)|ovary(1)	4						AGCACAGCCCGCTCTCCCCGA	0.607								Other conserved DNA damage response genes																													p.R1907W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5719T	6						.						53.0	56.0	55.0					6																	30671027		1509	2708	4217	30779006	SO:0001583	missense	9656	exon12			D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.5719C>T	6.37:g.30671027G>A	ENSP00000365588:p.Arg1907Trp		30779006	NM_014641	A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.203617	0.58234	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	D;D	0.86562	-2.14;-2.14	5.19	3.34	0.38264	BRCT (3);	1.685150	0.03953	N	0.288846	D	0.88897	0.6562	M	0.62723	1.935	0.35311	D	0.783933	D;D	0.89917	1.0;0.996	D;P	0.66602	0.945;0.624	T	0.74006	-0.3803	10	0.87932	D	0	-1.9129	8.3748	0.32436	0.0:0.1521:0.5341:0.3139	.	1907;884	Q14676;Q14676-4	MDC1_HUMAN;.	W	1907;1643;1620;1473	ENSP00000365588:R1907W;ENSP00000365587:R1643W	ENSP00000365587:R1643W	R	-	1	2	MDC1	30779006	0.920000	0.31207	0.089000	0.20774	0.753000	0.42808	1.268000	0.33062	0.646000	0.30693	0.306000	0.20318	CGG		0.607	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641	
VARS2	57176	broad.mit.edu	37	6	30889969	30889969	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr6:30889969G>A	ENST00000321897.5	+	19	2515	c.1883G>A	c.(1882-1884)cGc>cAc	p.R628H	VARS2_ENST00000541562.1_Missense_Mutation_p.R658H|VARS2_ENST00000542001.1_Missense_Mutation_p.R488H|VARS2_ENST00000416670.2_Missense_Mutation_p.R628H|VARS2_ENST00000476162.1_3'UTR			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	628					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.R628H(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						TGGGTGGGCCGCATGGTCATG	0.587																																					p.R488H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1463A	6						.						111.0	118.0	115.0					6																	30889969		1508	2708	4216	30997948	SO:0001583	missense	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.1883G>A	6.37:g.30889969G>A	ENSP00000316092:p.Arg628His		30997948	NM_001167733	A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Missense_Mutation	SNP	ENST00000321897.5	37	CCDS34387.1	.	.	.	.	.	.	.	.	.	.	G	33	5.225926	0.95173	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000542001;ENST00000541562	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	5.14	5.14	0.70334	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.098318	0.64402	D	0.000002	T	0.53948	0.1828	M	0.91090	3.175	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.64067	-0.6494	10	0.87932	D	0	-23.951	16.1439	0.81551	0.0:0.0:1.0:0.0	.	626;658;628	B7ZL25;F5GXJ0;Q5ST30	.;.;SYVM_HUMAN	H	628;628;488;658	ENSP00000316092:R628H;ENSP00000394802:R628H;ENSP00000438200:R488H;ENSP00000441000:R658H	ENSP00000316092:R628H	R	+	2	0	VARS2	30997948	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	8.722000	0.91452	2.686000	0.91538	0.561000	0.74099	CGC		0.587	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442	
SLC44A4	80736	broad.mit.edu	37	6	31832449	31832449	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr6:31832449T>C	ENST00000229729.6	-	20	2011	c.1991A>G	c.(1990-1992)gAc>gGc	p.D664G	SLC44A4_ENST00000544672.1_Missense_Mutation_p.D588G|NEU1_ENST00000375631.4_5'Flank|SLC44A4_ENST00000375562.4_Missense_Mutation_p.D622G	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	664					acetylcholine biosynthetic process (GO:0008292)|acetylcholine secretion (GO:0061526)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of cell growth (GO:0030307)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D664G(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	GAAGAGCGTGTCCACACACAT	0.517																																					p.D622G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1865G	6						.						108.0	115.0	112.0					6																	31832449		1511	2709	4220	31940428	SO:0001583	missense	80736	exon19			AF134726	CCDS4724.2, CCDS54989.1, CCDS54990.1	6p21.3	2014-02-17	2005-09-06	2005-09-06	ENSG00000204385	ENSG00000204385		"""Solute carriers"""	13941	protein-coding gene	gene with protein product		606107	"""chromosome 6 open reading frame 29"""	C6orf29		10677542, 15715662, 24379411	Standard	NM_025257		Approved	NG22, CTL4, FLJ14491, TPPT	uc010jti.3	Q53GD3	OTTHUMG00000031133	ENST00000229729.6:c.1991A>G	6.37:g.31832449T>C	ENSP00000229729:p.Asp664Gly		31940428	NM_001178044	A2BED3|B0UXX8|B0UZY8|B4DU94|B4DWM2|E9PEK7|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332	Missense_Mutation	SNP	ENST00000229729.6	37	CCDS4724.2	.	.	.	.	.	.	.	.	.	.	T	22.9	4.344431	0.82022	.	.	ENSG00000204385	ENST00000229729;ENST00000375562;ENST00000544672	T;T;T	0.28069	1.63;1.63;1.63	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.60444	0.2269	H	0.95780	3.72	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.73914	-0.3832	10	0.87932	D	0	-11.349	13.6762	0.62456	0.0:0.0:0.0:1.0	.	664	Q53GD3	CTL4_HUMAN	G	664;622;588	ENSP00000229729:D664G;ENSP00000364712:D622G;ENSP00000444109:D588G	ENSP00000229729:D664G	D	-	2	0	SLC44A4	31940428	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	5.701000	0.68325	2.062000	0.61559	0.459000	0.35465	GAC		0.517	SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076234.3		
STK19	8859	broad.mit.edu	37	6	31948549	31948549	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr6:31948549C>T	ENST00000375333.2	+	7	1085	c.1032C>T	c.(1030-1032)caC>caT	p.H344H	C4A_ENST00000498271.1_5'Flank|STK19_ENST00000375331.2_Silent_p.H340H|C4A_ENST00000537134.1_5'Flank|C4A_ENST00000428956.2_5'Flank	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	344					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						ACCATGTGCACGACCTCATTG	0.607																																					p.H340H												.	.	0			c.C1020T	6						.						17.0	20.0	19.0					6																	31948549		1503	2705	4208	32056528	SO:0001819	synonymous_variant	8859	exon7			X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.1032C>T	6.37:g.31948549C>T			32056528	NM_004197	A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Silent	SNP	ENST00000375333.2	37	CCDS4733.1																																																																																				0.607	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3		
COL11A2	1302	broad.mit.edu	37	6	33136331	33136331	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr6:33136331C>T	ENST00000374708.4	-	52	3925	c.3667G>A	c.(3667-3669)Ggg>Agg	p.G1223R	COL11A2_ENST00000374714.1_Missense_Mutation_p.G1283R|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000357486.1_Missense_Mutation_p.G1288R|COL11A2_ENST00000395197.1_Missense_Mutation_p.G1249R|COL11A2_ENST00000374713.1_Missense_Mutation_p.G1262R|COL11A2_ENST00000361917.1_Missense_Mutation_p.G1202R|COL11A2_ENST00000341947.2_Missense_Mutation_p.G1309R|COL11A2_ENST00000374712.1_Missense_Mutation_p.G1228R	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1309	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.G1309R(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCATTCTCCCCGGTGGGACCA	0.632																																					p.G1223R	Melanoma(1;90 116 3946 5341 17093)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3667A	6						.						45.0	42.0	43.0					6																	33136331		1511	2709	4220	33244309	SO:0001583	missense	1302	exon52			U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.3667G>A	6.37:g.33136331C>T	ENSP00000363840:p.Gly1223Arg		33244309	NM_080681	A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.564569	0.65651	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	D;D;D;D;D;D;D;D	0.99429	-5.89;-3.23;-3.23;-3.23;-5.89;-5.89;-5.89;-5.89	4.25	4.25	0.50352	.	0.000000	0.85682	D	0.000000	D	0.99701	0.9886	H	0.97103	3.94	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.97332	0.9951	10	0.87932	D	0	.	14.2085	0.65750	0.0:1.0:0.0:0.0	.	1202;1223;1309	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	R	1223;1309;1288;1283;1262;1249;1228;1202	ENSP00000363840:G1223R;ENSP00000339915:G1309R;ENSP00000350079:G1288R;ENSP00000363846:G1283R;ENSP00000363845:G1262R;ENSP00000378623:G1249R;ENSP00000363844:G1228R;ENSP00000355123:G1202R	ENSP00000339915:G1309R	G	-	1	0	COL11A2	33244309	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.239000	0.78182	2.205000	0.71048	0.551000	0.68910	GGG		0.632	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2		
PFDN6	10471	broad.mit.edu	37	6	33258227	33258227	+	Splice_Site	SNP	T	T	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr6:33258227T>G	ENST00000395131.1	+	4	666	c.260T>G	c.(259-261)aTt>aGt	p.I87S	WDR46_ENST00000477718.1_5'Flank|PFDN6_ENST00000463584.1_Splice_Site_p.I87R|WDR46_ENST00000374617.4_5'Flank|PFDN6_ENST00000374610.2_Splice_Site_p.I87S|PFDN6_ENST00000374607.1_Splice_Site_p.I87S|PFDN6_ENST00000374606.5_Splice_Site_p.I87S|RGL2_ENST00000437840.2_5'Flank			O15212	PFD6_HUMAN	prefoldin subunit 6	87					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)	prefoldin complex (GO:0016272)	chaperone binding (GO:0051087)|unfolded protein binding (GO:0051082)	p.I87S(1)		kidney(1)|large_intestine(1)	2						ACAGCTGAAATGTGAGTTTTT	0.517																																					p.I87S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T260G	6						.						60.0	62.0	61.0					6																	33258227		2203	4300	6503	33366205	SO:0001630	splice_region_variant	10471	exon3			BC039033	CCDS4773.1	6p21.3	2006-02-24	2006-02-24	2006-02-24	ENSG00000204220	ENSG00000204220			4926	protein-coding gene	gene with protein product		605660	"""HLA class II region expressed gene KE2"", ""prefoldin 6"""	HKE2		9545376, 9630229	Standard	NM_001185181		Approved	KE-2, H2-KE2, PFD6	uc031sny.1	O15212	OTTHUMG00000031247	ENST00000395131.1:c.260+1T>G	6.37:g.33258227T>G			33366205	NM_001185181		Missense_Mutation	SNP	ENST00000395131.1	37	CCDS4773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.1|27.1	4.801111|4.801111	0.90538|0.90538	.|.	.|.	ENSG00000204220|ENSG00000204220	ENST00000463584|ENST00000395131;ENST00000374606;ENST00000374610;ENST00000374607	T|T;T;T;T	0.55588|0.54071	0.51|0.59;0.59;0.59;0.59	5.63|5.63	5.63|5.63	0.86233|0.86233	.|Prefoldin beta-like (1);Prefoldin (1);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.63129|0.63129	0.2485|0.2485	M|M	0.86420|0.86420	2.815|2.815	0.80722|0.80722	D|D	1|1	.|P	.|0.51933	.|0.949	.|P	.|0.55222	.|0.771	T|T	0.71692|0.71692	-0.4516|-0.4516	8|10	0.87932|0.87932	D|D	0|0	.|.	12.1555|12.1555	0.54074|0.54074	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|87	.|O15212	.|PFD6_HUMAN	R|S	87|87	ENSP00000420135:I87R|ENSP00000378563:I87S;ENSP00000363734:I87S;ENSP00000363738:I87S;ENSP00000363735:I87S	ENSP00000420135:I87R|ENSP00000363734:I87S	I|I	+|+	2|2	0|0	PFDN6|PFDN6	33366205|33366205	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.923000|0.923000	0.55619|0.55619	6.249000|6.249000	0.72427|0.72427	2.363000|2.363000	0.80096|0.80096	0.523000|0.523000	0.50628|0.50628	ATA|ATT		0.517	PFDN6-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276361.1	NM_014260	Missense_Mutation
SYNGAP1	8831	broad.mit.edu	37	6	33410818	33410818	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr6:33410818C>A	ENST00000418600.2	+	15	2590	c.2489C>A	c.(2488-2490)cCa>cAa	p.P830Q	SYNGAP1_ENST00000428982.2_Missense_Mutation_p.P771Q|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.P830Q	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	830					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)	p.P815Q(1)|p.P830Q(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						ATCACAGAGCCAGAGCAGAAG	0.577																																					p.P830Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2489A	6						.						113.0	95.0	101.0					6																	33410818		2203	4300	6503	33518796	SO:0001583	missense	8831	exon15			AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.2489C>A	6.37:g.33410818C>A	ENSP00000403636:p.Pro830Gln		33518796	NM_006772	A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	ENST00000418600.2	37	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	C	16.98	3.271711	0.59649	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	T;T;T	0.12465	2.68;2.68;2.68	4.52	3.64	0.41730	.	0.344984	0.30219	N	0.010126	T	0.20536	0.0494	L	0.54323	1.7	0.50813	D	0.999897	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.01238	-1.1409	10	0.72032	D	0.01	.	12.2919	0.54823	0.0:0.8278:0.1722:0.0	.	830;830;830	Q96PV0;Q96PV0-2;Q96PV0-4	SYGP1_HUMAN;.;.	Q	830;830;816;771	ENSP00000293748:P830Q;ENSP00000403636:P830Q;ENSP00000412475:P771Q	ENSP00000293748:P830Q	P	+	2	0	SYNGAP1	33518796	1.000000	0.71417	0.995000	0.50966	0.999000	0.98932	7.270000	0.78493	1.105000	0.41606	0.591000	0.81541	CCA		0.577	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407	
SCUBE3	222663	broad.mit.edu	37	6	35196486	35196486	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr6:35196486C>T	ENST00000274938.7	+	3	304	c.304C>T	c.(304-306)Cac>Tac	p.H102Y	SCUBE3_ENST00000394681.1_Missense_Mutation_p.H102Y	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3									p.H102Y(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						TGATGGATTCCACCTGGCACA	0.498																																					p.H102Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C304T	6						.						230.0	165.0	187.0					6																	35196486		2203	4300	6503	35304464	SO:0001583	missense	222663	exon3			AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"""CUB domain and EGF-like repeat containing 3"""	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.304C>T	6.37:g.35196486C>T	ENSP00000274938:p.His102Tyr		35304464	NM_152753		Missense_Mutation	SNP	ENST00000274938.7	37	CCDS4800.1	.	.	.	.	.	.	.	.	.	.	C	7.569	0.666349	0.14710	.	.	ENSG00000146197	ENST00000394681;ENST00000274938	D;D	0.95035	-3.59;-3.59	5.31	5.31	0.75309	EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.122178	0.64402	N	0.000018	D	0.85915	0.5808	L	0.35542	1.07	0.29478	N	0.856533	P;P	0.40731	0.728;0.58	B;B	0.37601	0.254;0.148	T	0.82776	-0.0290	10	0.37606	T	0.19	.	14.0734	0.64874	0.1504:0.8496:0.0:0.0	.	102;102	Q8IX30-2;Q8IX30	.;SCUB3_HUMAN	Y	102	ENSP00000378174:H102Y;ENSP00000274938:H102Y	ENSP00000274938:H102Y	H	+	1	0	SCUBE3	35304464	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.202000	0.58446	2.758000	0.94735	0.655000	0.94253	CAC		0.498	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040275.1	NM_152753	
PNPLA1	285848	broad.mit.edu	37	6	36262023	36262023	+	Silent	SNP	C	C	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr6:36262023C>A	ENST00000394571.2	+	4	561	c.561C>A	c.(559-561)gcC>gcA	p.A187A	PNPLA1_ENST00000312917.5_Silent_p.A101A|PNPLA1_ENST00000388715.3_Silent_p.A92A	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	187					lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						GGACCGACGCCATCACCATCT	0.602																																					p.A187A												.	.	0			c.C561A	6						.						102.0	78.0	86.0					6																	36262023		2203	4300	6503	36370001	SO:0001819	synonymous_variant	285848	exon4				CCDS34438.1, CCDS47416.1, CCDS54997.1	6p21.31	2009-01-12			ENSG00000180316	ENSG00000180316		"""Patatin-like phospholipase domain containing"""	21246	protein-coding gene	gene with protein product		612121				16799181, 19029121	Standard	NM_001145717		Approved	FLJ38755, dJ50J22.1	uc010jwf.2	Q8N8W4	OTTHUMG00000014590	ENST00000394571.2:c.561C>A	6.37:g.36262023C>A			36370001	NM_001145717	A3RMU3|J3JS20|Q2A6N1|Q3SY95|Q3SY96|Q5R3L2	Silent	SNP	ENST00000394571.2	37	CCDS54997.1																																																																																				0.602	PNPLA1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_173676	
C6orf89	221477	broad.mit.edu	37	6	36870139	36870139	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr6:36870139T>G	ENST00000480824.2	+	4	626	c.332T>G	c.(331-333)aTt>aGt	p.I111S	C6orf89_ENST00000355190.3_Missense_Mutation_p.I118S|C6orf89_ENST00000510325.2_Missense_Mutation_p.I5S|C6orf89_ENST00000359359.2_Missense_Mutation_p.I5S|C6orf89_ENST00000373685.1_Missense_Mutation_p.I111S			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	111					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.I118S(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						TCCTTGCCCATTGCCAAGAAG	0.463																																					p.I118S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T353G	6						.						132.0	121.0	125.0					6																	36870139		2203	4300	6503	36978117	SO:0001583	missense	221477	exon3			AK058086	CCDS4827.1, CCDS69100.1, CCDS75444.1	6p21.31	2013-03-14			ENSG00000198663	ENSG00000198663			21114	protein-coding gene	gene with protein product	"""bombesin receptor activated protein"""					21857995, 23460338	Standard	NM_152734		Approved	FLJ25357, BRAP	uc003omw.3	Q6UWU4	OTTHUMG00000014613	ENST00000480824.2:c.332T>G	6.37:g.36870139T>G	ENSP00000475947:p.Ile111Ser		36978117	NM_152734	B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Missense_Mutation	SNP	ENST00000480824.2	37		.	.	.	.	.	.	.	.	.	.	T	23.4	4.412224	0.83340	.	.	ENSG00000198663	ENST00000359359;ENST00000510325;ENST00000355190;ENST00000373685;ENST00000416621;ENST00000540072	T;T	0.42513	0.97;0.97	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.54208	0.1844	M	0.64997	1.995	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.59931	-0.7361	10	0.87932	D	0	-0.8748	14.6209	0.68584	0.0:0.0:0.0:1.0	.	111;118	Q6UWU4;Q6UWU4-2	CF089_HUMAN;.	S	5;5;118;111;118;117	ENSP00000347322:I118S;ENSP00000362789:I111S	ENSP00000347322:I118S	I	+	2	0	C6orf89	36978117	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	6.285000	0.72658	2.189000	0.69895	0.533000	0.62120	ATT		0.463	C6orf89-004	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000040387.2	NM_152734	
GLP1R	2740	broad.mit.edu	37	6	39024212	39024212	+	Nonsense_Mutation	SNP	C	C	T	rs141990898		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr6:39024212C>T	ENST00000373256.4	+	2	161	c.118C>T	c.(118-120)Cga>Tga	p.R40*		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	40					activation of adenylate cyclase activity (GO:0007190)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|learning or memory (GO:0007611)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucagon receptor activity (GO:0004967)|transmembrane signaling receptor activity (GO:0004888)	p.R40*(1)		breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)|Liraglutide(DB06655)	GCAGAAATGGCGAGAATACCG	0.632																																					p.R40X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C118T	6						.	C	stop/ARG	2,4404	4.2+/-10.8	0,2,2201	67.0	57.0	60.0		118	1.2	1.0	6	dbSNP_134	60	0,8600		0,0,4300	yes	stop-gained	GLP1R	NM_002062.3		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		40/464	39024212	2,13004	2203	4300	6503	39132190	SO:0001587	stop_gained	2740	exon2				CCDS4839.1	6p21	2012-08-10			ENSG00000112164	ENSG00000112164		"""GPCR / Class B : Glucagon receptors"""	4324	protein-coding gene	gene with protein product		138032					Standard	NM_002062		Approved		uc003ooj.4	P43220	OTTHUMG00000014638	ENST00000373256.4:c.118C>T	6.37:g.39024212C>T	ENSP00000362353:p.Arg40*		39132190	NM_002062	Q2M229|Q99669	Nonsense_Mutation	SNP	ENST00000373256.4	37	CCDS4839.1	.	.	.	.	.	.	.	.	.	.	C	33	5.263182	0.95399	4.54E-4	0.0	ENSG00000112164	ENST00000373256	.	.	.	5.53	1.17	0.20885	.	0.206521	0.33092	N	0.005290	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	2.7886	0.05381	0.4051:0.366:0.1357:0.0933	.	.	.	.	X	40	.	ENSP00000362353:R40X	R	+	1	2	GLP1R	39132190	0.999000	0.42202	1.000000	0.80357	0.870000	0.49936	0.891000	0.28309	0.261000	0.21753	-0.150000	0.13652	CGA		0.632	GLP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040443.1		
KCNK17	89822	broad.mit.edu	37	6	39278723	39278723	+	Missense_Mutation	SNP	G	G	A	rs191023425		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr6:39278723G>A	ENST00000373231.4	-	2	530	c.298C>T	c.(298-300)Cgc>Tgc	p.R100C	KCNK17_ENST00000453413.2_Missense_Mutation_p.R100C	NM_031460.3	NP_113648.2	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17	100					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.R100C(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						AGCTCCCAGCGCCCCATGCTG	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		11643	0.001		0.0	False		,,,				2504	0.0				p.R100C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C298T	6						.						112.0	109.0	110.0					6																	39278723		2203	4300	6503	39386701	SO:0001583	missense	89822	exon2			AF358910	CCDS4842.1, CCDS47419.1	6p21	2012-03-07			ENSG00000124780	ENSG00000124780		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	14465	protein-coding gene	gene with protein product		607370				16382106	Standard	NM_031460		Approved	K2p17.1, TALK-2, TALK2, TASK4, TASK-4	uc003ooo.3	Q96T54	OTTHUMG00000014646	ENST00000373231.4:c.298C>T	6.37:g.39278723G>A	ENSP00000362328:p.Arg100Cys		39386701	NM_031460	E9PB46|Q5TCF4|Q8TAW4|Q9BXD1|Q9H592	Missense_Mutation	SNP	ENST00000373231.4	37	CCDS4842.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	18.92	3.726098	0.69074	.	.	ENSG00000124780	ENST00000373231;ENST00000453413	T;T	0.24723	1.84;1.84	5.34	4.47	0.54385	Ion transport 2 (1);	0.253029	0.25726	N	0.028713	T	0.29423	0.0733	M	0.62723	1.935	0.31815	N	0.626773	D;D	0.89917	1.0;1.0	D;D	0.75020	0.978;0.985	T	0.16748	-1.0392	10	0.45353	T	0.12	.	7.9712	0.30127	0.1846:0.0:0.8153:0.0	.	100;100	E9PB46;Q96T54	.;KCNKH_HUMAN	C	100	ENSP00000362328:R100C;ENSP00000401271:R100C	ENSP00000362328:R100C	R	-	1	0	KCNK17	39386701	0.881000	0.30235	0.998000	0.56505	0.972000	0.66771	1.023000	0.30065	1.240000	0.43803	0.542000	0.68232	CGC		0.612	KCNK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040453.2	NM_031460	
GUCA1A	2978	broad.mit.edu	37	6	42141403	42141403	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	T	T	T	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr6:42141403T>A	ENST00000394237.1	+	3	1028	c.52T>A	c.(52-54)Tgc>Agc	p.C18S	GUCA1A_ENST00000372958.1_Missense_Mutation_p.C18S|GUCA1A_ENST00000053469.4_Missense_Mutation_p.C18S|GUCA1A_ENST00000541991.1_Missense_Mutation_p.C18S			P43080	GUC1A_HUMAN	guanylate cyclase activator 1A (retina)	18	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				phototransduction, visible light (GO:0007603)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CAGCACCGAGTGCCACCAGTG	0.587																																					p.C18S												.	.	0			c.T52A	6						.						147.0	120.0	129.0					6																	42141403		2203	4300	6503	42249381	SO:0001583	missense	2978	exon3				CCDS4864.1	6p21.1	2013-06-06			ENSG00000048545	ENSG00000048545		"""EF-hand domain containing"""	4678	protein-coding gene	gene with protein product	"""cone dystrophy 3"""	600364	"""chromosome 6 open reading frame 131"""	GUCA, GUCA1, C6orf131		9425234	Standard	NM_000409		Approved	GCAP, GCAP1, COD3, dJ139D8.6, CORD14	uc003orx.3	P43080	OTTHUMG00000014696	ENST00000394237.1:c.52T>A	6.37:g.42141403T>A	ENSP00000377784:p.Cys18Ser		42249381	NM_000409	B3KWT4|Q7Z6T1|Q9NU14	Missense_Mutation	SNP	ENST00000394237.1	37	CCDS4864.1	.	.	.	.	.	.	.	.	.	.	T	13.98	2.400060	0.42613	.	.	ENSG00000048545	ENST00000418175;ENST00000541991;ENST00000372965;ENST00000053469;ENST00000394237;ENST00000372958	T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21	6.02	6.02	0.97574	EF-hand-like domain (1);	0.236472	0.50627	D	0.000106	T	0.20251	0.0487	N	0.00926	-1.1	0.36966	D	0.893588	B	0.12630	0.006	B	0.06405	0.002	T	0.16188	-1.0411	10	0.49607	T	0.09	.	9.74	0.40413	0.154:0.0:0.0:0.8459	.	18	P43080	GUC1A_HUMAN	S	18;18;14;18;18;18	ENSP00000388438:C18S;ENSP00000437476:C18S;ENSP00000053469:C18S;ENSP00000377784:C18S;ENSP00000362049:C18S	ENSP00000053469:C18S	C	+	1	0	GUCA1A	42249381	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.752000	0.62176	2.311000	0.77944	0.533000	0.62120	TGC		0.587	GUCA1A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316582.1		
TRERF1	55809	broad.mit.edu	37	6	42231239	42231244	+	In_Frame_Del	DEL	GGCGGA	GGCGGA	-	rs371824643|rs377404285|rs368207749|rs572460409|rs566959555	byFrequency	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	GGCGGA	GGCGGA	GGCGGA	-	GGCGGA	GGCGGA	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr6:42231239_42231244delGGCGGA	ENST00000372922.4	-	8	2260_2265	c.1698_1703delTCCGCC	c.(1696-1704)cctccgccg>ccg	p.566_568PPP>P	TRERF1_ENST00000541110.1_In_Frame_Del_p.566_568PPP>P|TRERF1_ENST00000372917.4_Intron|TRERF1_ENST00000354325.2_Intron|TRERF1_ENST00000340840.2_Intron	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	566	Interacts with CREBBP.|Pro-rich.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.P567P(1)|p.P569_P570delPP(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			ctgtggtggcggcggaggcggaggcg	0.646																																					p.566_568del												.	.	2	Substitution - coding silent(1)|Deletion - In frame(1)	large_intestine(1)|pancreas(1)	c.1698_1703del	6						.																																			42339222	SO:0001651	inframe_deletion	55809	exon8			AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.1698_1703delTCCGCC	6.37:g.42231245_42231250delGGCGGA	ENSP00000362013:p.Pro568_Pro569del		42339217	NM_033502	Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	In_Frame_Del	DEL	ENST00000372922.4	37	CCDS4867.1																																																																																				0.646	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502	
TTBK1	84630	broad.mit.edu	37	6	43251111	43251111	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr6:43251111A>G	ENST00000259750.4	+	14	2716	c.2633A>G	c.(2632-2634)cAg>cGg	p.Q878R		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	878					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.Q878R(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			ACGGGCAGCCAGCTGGACGTA	0.701																																					p.Q878R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2633G	6						.						8.0	11.0	10.0					6																	43251111		2178	4268	6446	43359089	SO:0001583	missense	84630	exon14			AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.2633A>G	6.37:g.43251111A>G	ENSP00000259750:p.Gln878Arg		43359089	NM_032538	A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	ENST00000259750.4	37	CCDS34455.1	.	.	.	.	.	.	.	.	.	.	A	17.90	3.501642	0.64298	.	.	ENSG00000146216	ENST00000259750	T	0.59224	0.28	5.14	5.14	0.70334	.	0.000000	0.64402	D	0.000004	T	0.53190	0.1781	L	0.50333	1.59	0.80722	D	1	D	0.58268	0.982	P	0.52554	0.702	T	0.60742	-0.7203	10	0.72032	D	0.01	.	13.936	0.64026	1.0:0.0:0.0:0.0	.	878	Q5TCY1	TTBK1_HUMAN	R	878	ENSP00000259750:Q878R	ENSP00000259750:Q878R	Q	+	2	0	TTBK1	43359089	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	4.157000	0.58144	1.937000	0.56155	0.379000	0.24179	CAG		0.701	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3		
TCTE1	202500	broad.mit.edu	37	6	44247990	44247990	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr6:44247990G>A	ENST00000371505.4	-	5	1556	c.1434C>T	c.(1432-1434)cgC>cgT	p.R478R	RP11-444E17.6_ENST00000505802.1_Intron|TCTE1_ENST00000371504.1_Silent_p.R175R|TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371503.3_Silent_p.R175R	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	478								p.R478R(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGGCCCGCTGGCGGGCTGCTT	0.562																																					p.R478R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1434T	6						.						83.0	92.0	89.0					6																	44247990		2203	4300	6503	44355968	SO:0001819	synonymous_variant	202500	exon5			BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.1434C>T	6.37:g.44247990G>A			44355968	NM_182539	B4DX59|Q8IYS6	Silent	SNP	ENST00000371505.4	37	CCDS4910.1																																																																																				0.562	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040736.1	NM_182539	
RUNX2	860	broad.mit.edu	37	6	45480063	45480063	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr6:45480063T>C	ENST00000371438.1	+	6	1298	c.940T>C	c.(940-942)Tcc>Ccc	p.S314P	RUNX2_ENST00000371432.3_Missense_Mutation_p.S300P|RUNX2_ENST00000576263.1_Missense_Mutation_p.S314P|RUNX2_ENST00000371436.6_Missense_Mutation_p.S314P|RUNX2_ENST00000352853.5_Missense_Mutation_p.S382P|RUNX2_ENST00000359524.5_Missense_Mutation_p.S300P|RUNX2_ENST00000541979.1_Missense_Mutation_p.S382P|RUNX2_ENST00000465038.2_Missense_Mutation_p.S314P	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	314	Pro/Ser/Thr-rich.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.S382P(1)|p.S314P(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GACGTCCCCGTCCATCCACTC	0.572																																					p.S300P												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T898C	6						.						119.0	98.0	105.0					6																	45480063		2203	4300	6503	45588041	SO:0001583	missense	860	exon5			AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.940T>C	6.37:g.45480063T>C	ENSP00000360493:p.Ser314Pro		45588041	NM_004348	O14614|O14615|O95181	Missense_Mutation	SNP	ENST00000371438.1	37	CCDS43467.2	.	.	.	.	.	.	.	.	.	.	T	29.2	4.986939	0.93106	.	.	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	D;D;D;D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28;-2.28;-2.28;-2.28	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.90834	0.7121	M	0.62016	1.91	0.80722	D	1	D;D;D	0.76494	0.988;0.962;0.999	P;P;D	0.69824	0.843;0.656;0.966	D	0.91111	0.4922	10	0.52906	T	0.07	-10.8527	16.6245	0.84952	0.0:0.0:0.0:1.0	.	382;314;300	F6RGB9;Q13950;Q13950-2	.;RUNX2_HUMAN;.	P	314;382;382;314;314;300;300	ENSP00000420707:S314P;ENSP00000319087:S382P;ENSP00000446290:S382P;ENSP00000360493:S314P;ENSP00000360491:S314P;ENSP00000352514:S300P;ENSP00000360486:S300P	ENSP00000319087:S382P	S	+	1	0	RUNX2	45588041	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	7.656000	0.83736	2.323000	0.78572	0.528000	0.53228	TCC		0.572	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348	
GPR116	221395	broad.mit.edu	37	6	46825941	46825941	+	Silent	SNP	A	A	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr6:46825941A>C	ENST00000283296.7	-	17	3987	c.3699T>G	c.(3697-3699)ggT>ggG	p.G1233G	GPR116_ENST00000545669.1_Silent_p.G662G|GPR116_ENST00000362015.4_Silent_p.G1233G|GPR116_ENST00000265417.7_Silent_p.G1233G|GPR116_ENST00000456426.2_Silent_p.G1091G	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1233					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.G1233G(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TGAGACCAAAACCCCAAGTGA	0.507																																					p.G1233G	NSCLC(59;410 1274 8751 36715 50546)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T3699G	6						.						120.0	112.0	115.0					6																	46825941		2203	4300	6503	46933900	SO:0001819	synonymous_variant	221395	exon17			AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.3699T>G	6.37:g.46825941A>C			46933900	NM_001098518	O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Silent	SNP	ENST00000283296.7	37	CCDS4919.1																																																																																				0.507	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234	
TNFRSF21	27242	broad.mit.edu	37	6	47202563	47202563	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr6:47202563G>A	ENST00000296861.2	-	5	1974	c.1581C>T	c.(1579-1581)aaC>aaT	p.N527N		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	527					adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|B cell apoptotic process (GO:0001783)|cellular lipid metabolic process (GO:0044255)|cellular response to tumor necrosis factor (GO:0071356)|humoral immune response (GO:0006959)|myelination (GO:0042552)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of myelination (GO:0031642)|negative regulation of T cell proliferation (GO:0042130)|neuron apoptotic process (GO:0051402)|oligodendrocyte apoptotic process (GO:0097252)|regulation of oligodendrocyte differentiation (GO:0048713)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)		p.N527N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			CAAGTTTCGCgttggggctgg	0.552																																					p.N527N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1581T	6						.						26.0	27.0	27.0					6																	47202563		2203	4299	6502	47310522	SO:0001819	synonymous_variant	27242	exon5			AF068868	CCDS4921.1	6p21.1	2011-08-11			ENSG00000146072	ENSG00000146072		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	13469	protein-coding gene	gene with protein product	"""death receptor 6"""	605732				9714541	Standard	NM_014452		Approved	DR6, CD358	uc003oyv.3	O75509	OTTHUMG00000014796	ENST00000296861.2:c.1581C>T	6.37:g.47202563G>A			47310522	NM_014452	B2RDI9|Q0D2P5|Q96D86	Silent	SNP	ENST00000296861.2	37	CCDS4921.1																																																																																				0.552	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040814.1	NM_014452	
GPR115	221393	broad.mit.edu	37	6	47682296	47682296	+	Missense_Mutation	SNP	C	C	T	rs536284658		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr6:47682296C>T	ENST00000283303.2	+	6	1573	c.1315C>T	c.(1315-1317)Cgt>Tgt	p.R439C	RN7SKP116_ENST00000516902.1_RNA|GPR115_ENST00000327753.3_Missense_Mutation_p.R439C|GPR115_ENST00000371220.1_Missense_Mutation_p.R496C	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	439					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R439C(1)		NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						ATCATACATGCGTCACGTGTG	0.483													C|||	1	0.000199681	0.0	0.0	5008	,	,		22405	0.0		0.0	False		,,,				2504	0.001				p.R439C	GBM(22;431 510 9010 26644 32828)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1315T	6						.						228.0	202.0	211.0					6																	47682296		2203	4300	6503	47790255	SO:0001583	missense	221393	exon6			AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"""-"", ""GPCR / Class B : Orphans"""	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.1315C>T	6.37:g.47682296C>T	ENSP00000283303:p.Arg439Cys		47790255	NM_153838	B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Missense_Mutation	SNP	ENST00000283303.2	37	CCDS4922.2	.	.	.	.	.	.	.	.	.	.	C	21.3	4.132511	0.77662	.	.	ENSG00000153294	ENST00000371220;ENST00000327753;ENST00000283303	T;T;T	0.57595	0.39;0.39;0.39	5.45	5.45	0.79879	GPCR, family 2-like (1);	0.154657	0.47093	D	0.000249	T	0.73497	0.3594	M	0.90977	3.165	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.79085	-0.1948	10	0.87932	D	0	-8.6819	13.5824	0.61911	0.1552:0.8448:0.0:0.0	.	439	Q8IZF3	GP115_HUMAN	C	496;439;439	ENSP00000360264:R496C;ENSP00000328319:R439C;ENSP00000283303:R439C	ENSP00000283303:R439C	R	+	1	0	GPR115	47790255	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.754000	0.62191	2.721000	0.93114	0.655000	0.94253	CGT		0.483	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040819.2	NM_153838	
BEND6	221336	broad.mit.edu	37	6	56882054	56882054	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr6:56882054A>G	ENST00000370746.3	+	5	838	c.569A>G	c.(568-570)cAg>cGg	p.Q190R	BEND6_ENST00000484701.1_3'UTR|BEND6_ENST00000545789.1_Missense_Mutation_p.Q92R|BEND6_ENST00000370750.2_3'UTR	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	190	BEN. {ECO:0000255|PROSITE- ProRule:PRU00784}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		RNA polymerase II transcription corepressor activity (GO:0001106)	p.Q190R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						AGCAAGCCTCAGAAGTTTATT	0.388																																					p.Q190R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A569G	6						.						61.0	57.0	59.0					6																	56882054		1843	4098	5941	56990013	SO:0001583	missense	221336	exon5			AK054724	CCDS43476.1	6p12.1	2012-11-22	2008-10-03	2008-10-03	ENSG00000151917	ENSG00000151917		"""BEN domain containing"""	20871	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 65"""	C6orf65			Standard	NM_152731		Approved	FLJ30162, bA203B9.1	uc010kab.3	Q5SZJ8	OTTHUMG00000014914	ENST00000370746.3:c.569A>G	6.37:g.56882054A>G	ENSP00000359782:p.Gln190Arg		56990013	NM_152731	Q4G0W8|Q8N662|Q96NS6	Missense_Mutation	SNP	ENST00000370746.3	37	CCDS43476.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.022871	0.75275	.	.	ENSG00000151917	ENST00000370746;ENST00000545789	.	.	.	4.87	4.87	0.63330	BEN domain (1);	0.000000	0.51477	D	0.000086	T	0.32496	0.0831	N	0.08118	0	0.33771	D	0.623111	D;D	0.59357	0.985;0.981	D;D	0.74023	0.982;0.954	T	0.34502	-0.9826	8	.	.	.	-13.9765	12.3486	0.55134	1.0:0.0:0.0:0.0	.	190;92	Q5SZJ8;Q5SZJ8-3	BEND6_HUMAN;.	R	190;92	.	.	Q	+	2	0	BEND6	56990013	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.690000	0.68241	2.053000	0.61076	0.459000	0.35465	CAG		0.388	BEND6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041032.4	NM_152731	
ME1	4199	broad.mit.edu	37	6	84056037	84056037	+	Missense_Mutation	SNP	T	T	A	rs145219369		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr6:84056037T>A	ENST00000369705.3	-	5	571	c.455A>T	c.(454-456)gAt>gTt	p.D152V	ME1_ENST00000541327.1_5'UTR|ME1_ENST00000543031.1_Missense_Mutation_p.D77V	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	152					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|malate metabolic process (GO:0006108)|NADP biosynthetic process (GO:0006741)|protein tetramerization (GO:0051262)|response to carbohydrate (GO:0009743)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|manganese ion binding (GO:0030145)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|oxaloacetate decarboxylase activity (GO:0008948)	p.D152V(1)		NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)		ACGCTCTCCATCAGTCACCAC	0.423																																					p.D152V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A455T	6						.						61.0	56.0	58.0					6																	84056037		2203	4300	6503	84112756	SO:0001583	missense	4199	exon5			X77244	CCDS34492.1	6q12	2012-10-02			ENSG00000065833	ENSG00000065833	1.1.1.40		6983	protein-coding gene	gene with protein product		154250				8187880	Standard	NM_002395		Approved		uc003pjy.3	P48163	OTTHUMG00000015111	ENST00000369705.3:c.455A>T	6.37:g.84056037T>A	ENSP00000358719:p.Asp152Val		84112756	NM_002395	B4DZ70|Q16797|Q16855|Q53F72|Q5VWA2|Q9BWX8|Q9H1W3|Q9UIY4	Missense_Mutation	SNP	ENST00000369705.3	37	CCDS34492.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.375046	0.82682	.	.	ENSG00000065833	ENST00000369705;ENST00000543031	T;T	0.57273	0.41;0.41	5.72	5.72	0.89469	Malic enzyme, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.80597	0.4653	H	0.97874	4.095	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88238	0.2908	10	0.87932	D	0	-27.4114	16.0077	0.80374	0.0:0.0:0.0:1.0	.	152	P48163	MAOX_HUMAN	V	152;77	ENSP00000358719:D152V;ENSP00000446114:D77V	ENSP00000358719:D152V	D	-	2	0	ME1	84112756	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	8.034000	0.88864	2.175000	0.68902	0.528000	0.53228	GAT		0.423	ME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041350.1		
ZNF292	23036	broad.mit.edu	37	6	87965485	87965485	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr6:87965485G>A	ENST00000369577.3	+	8	2181	c.2138G>A	c.(2137-2139)cGc>cAc	p.R713H	ZNF292_ENST00000339907.4_Missense_Mutation_p.R708H	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	713						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.R713H(1)|p.R568H(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)		GACGCCAAGCGCTTTCTTGAA	0.373																																					p.R713H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2138A	6						.						51.0	49.0	49.0					6																	87965485		1843	4091	5934	88022204	SO:0001583	missense	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.2138G>A	6.37:g.87965485G>A	ENSP00000358590:p.Arg713His		88022204	NM_015021	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.554330	0.45487	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.32023	1.47;1.47	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.44201	0.1282	L	0.49699	1.58	0.52099	D	0.999944	D	0.89917	1.0	D	0.74674	0.984	T	0.04551	-1.0943	10	0.37606	T	0.19	.	20.4192	0.99033	0.0:0.0:1.0:0.0	.	713	O60281	ZN292_HUMAN	H	713;708	ENSP00000358590:R713H;ENSP00000342847:R708H	ENSP00000342847:R708H	R	+	2	0	ZNF292	88022204	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.500000	0.66943	2.831000	0.97527	0.650000	0.86243	CGC		0.373	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021	
UBE2J1	51465	broad.mit.edu	37	6	90052127	90052127	+	Silent	SNP	G	G	A	rs368433561		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr6:90052127G>A	ENST00000435041.2	-	3	431	c.153C>T	c.(151-153)tcC>tcT	p.S51S		NM_016021.2	NP_057105.2	Q9Y385	UB2J1_HUMAN	ubiquitin-conjugating enzyme E2, J1	51					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)	p.S51S(1)		NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(11)|stomach(1)	18		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0139)		CATCAAAATCGGAGTCTGGGG	0.403																																					p.S51S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C153T	6						.	G		0,4406		0,0,2203	72.0	70.0	71.0		153	1.4	1.0	6		71	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	UBE2J1	NM_016021.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		51/319	90052127	2,13004	2203	4300	6503	90108846	SO:0001819	synonymous_variant	51465	exon3			AJ245898	CCDS5021.1	6q15	2014-01-28	2012-06-08		ENSG00000198833	ENSG00000198833		"""Ubiquitin-conjugating enzymes E2"""	17598	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2, J1 (UBC6 homolog, yeast)"""			10708578	Standard	NM_016021		Approved	HSPC153, CGI-76, NCUBE1, UBC6	uc003pnc.3	Q9Y385	OTTHUMG00000016337	ENST00000435041.2:c.153C>T	6.37:g.90052127G>A			90108846	NM_016021	A8K3F9|Q53F25|Q5W0N4|Q9BZ32|Q9NQL3|Q9NY66|Q9P011|Q9P0S0|Q9UF10	Silent	SNP	ENST00000435041.2	37	CCDS5021.1																																																																																				0.403	UBE2J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043742.2	NM_016021	
FNDC1	84624	broad.mit.edu	37	6	159655276	159655276	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr6:159655276delC	ENST00000297267.9	+	11	3932	c.3732delC	c.(3730-3732)ctcfs	p.L1244fs	FNDC1_ENST00000340366.6_Frame_Shift_Del_p.L1181fs	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1244					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.P1246fs*24(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)		AGCGACCTCTCCCCCCACCTC	0.726																																					p.L1244fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.3732delC	6						.						10.0	15.0	13.0					6																	159655276		1984	4137	6121	159575266	SO:0001589	frameshift_variant	84624	exon11			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.3732delC	6.37:g.159655276delC	ENSP00000297267:p.Leu1244fs		159575266	NM_032532	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Frame_Shift_Del	DEL	ENST00000297267.9	37	CCDS47512.1																																																																																				0.726	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532	
THBS2	7058	broad.mit.edu	37	6	169634898	169634898	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr6:169634898A>G	ENST00000366787.3	-	11	1831	c.1582T>C	c.(1582-1584)Tac>Cac	p.Y528H	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	528	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.Y528H(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TTCCCTCCGTACTGAGGCTCA	0.677																																					p.Y528H	Esophageal Squamous(91;219 1934 18562 44706)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1582C	6						.						56.0	54.0	54.0					6																	169634898		2203	4300	6503	169376823	SO:0001583	missense	7058	exon11				CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.1582T>C	6.37:g.169634898A>G	ENSP00000355751:p.Tyr528His		169376823	NM_003247	A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	A	9.961	1.222872	0.22457	.	.	ENSG00000186340	ENST00000366787	T	0.51325	0.71	4.38	-2.85	0.05734	.	0.472719	0.15682	N	0.249888	T	0.10809	0.0264	N	0.10874	0.06	0.40772	D	0.983095	B	0.02656	0.0	B	0.09377	0.004	T	0.16600	-1.0397	10	0.25751	T	0.34	-33.2096	12.3208	0.54983	0.8439:0.0:0.1561:0.0	.	528	P35442	TSP2_HUMAN	H	528	ENSP00000355751:Y528H	ENSP00000355751:Y528H	Y	-	1	0	THBS2	169376823	1.000000	0.71417	0.269000	0.24586	0.903000	0.53119	1.762000	0.38451	-0.446000	0.07149	-0.250000	0.11733	TAC		0.677	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247	
C7orf62	219557	broad.mit.edu	37	7	88423827	88423828	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr7:88423827_88423828insA	ENST00000297203.2	-	2	614_615	c.429_430insT	c.(427-432)tttatgfs	p.M144fs	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	144								p.M144fs*37(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						TGCCATTGCATAAAAAGCCTCA	0.337																																					p.M144fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.430_431insT	7						.																																			88261764	SO:0001589	frameshift_variant	219557	exon2			BC028365	CCDS34678.1	7q21.13	2013-10-11			ENSG00000164645	ENSG00000164645			22402	protein-coding gene	gene with protein product						12690205	Standard	NM_152706		Approved	MGC26647	uc003ujv.3	Q8TBZ9	OTTHUMG00000153859	ENST00000297203.2:c.430dupT	7.37:g.88423832_88423832dupA	ENSP00000297203:p.Met144fs		88261763	NM_152706		Frame_Shift_Ins	INS	ENST00000297203.2	37	CCDS34678.1																																																																																				0.337	C7orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332714.1	NM_152706	
GIGYF1	64599	broad.mit.edu	37	7	100281216	100281216	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr7:100281216G>A	ENST00000275732.5	-	17	3218	c.2009C>T	c.(2008-2010)tCg>tTg	p.S670L	GIGYF1_ENST00000471340.2_5'Flank	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	670					insulin-like growth factor receptor signaling pathway (GO:0048009)			p.S670L(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					ACCCTGAGTCGAAGAGTTAAT	0.597																																					p.S670L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2009T	7						.						149.0	146.0	147.0					7																	100281216		2203	4300	6503	100119152	SO:0001583	missense	64599	exon17			AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.2009C>T	7.37:g.100281216G>A	ENSP00000275732:p.Ser670Leu		100119152	NM_022574	Q6Y7W7|Q8WZ38	Missense_Mutation	SNP	ENST00000275732.5	37	CCDS34708.1	.	.	.	.	.	.	.	.	.	.	.	27.8	4.864089	0.91511	.	.	ENSG00000146830	ENST00000539430;ENST00000275732	D	0.83755	-1.76	4.05	4.05	0.47172	.	0.089224	0.46442	D	0.000281	T	0.80423	0.4620	L	0.42245	1.32	0.53005	D	0.999966	D	0.58970	0.984	P	0.47981	0.563	T	0.80246	-0.1462	10	0.37606	T	0.19	-6.7072	13.7737	0.63039	0.0:0.0:1.0:0.0	.	670	O75420	PERQ1_HUMAN	L	389;670	ENSP00000275732:S670L	ENSP00000275732:S670L	S	-	2	0	GIGYF1	100119152	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.772000	0.68889	2.090000	0.63153	0.313000	0.20887	TCG		0.597	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574	
COL26A1	136227	broad.mit.edu	37	7	101200762	101200762	+	RNA	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr7:101200762G>A	ENST00000397927.3	+	0	1490				COL26A1_ENST00000528707.1_RNA|COL26A1_ENST00000313669.7_RNA	NM_001278563.1	NP_001265492.1	Q96A83	COQA1_HUMAN	collagen, type XXVI, alpha 1						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.G425G(1)									CCCTGCTTGGGCCCGACCCTG	0.647																																					p.G424D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1271A	7						.						31.0	35.0	34.0					7																	101200762		2004	4176	6180	100987482			136227	exon13			AJ416091	CCDS64739.1	7q22.1	2013-01-16	2013-01-16	2013-01-16	ENSG00000160963	ENSG00000160963		"""Collagens"", ""EMI domain containing"""	18038	protein-coding gene	gene with protein product	"""Emu2 gene"""	608927	"""EMI domain containing 2"""	EMID2		12221002, 12145293	Standard	NM_001278563		Approved	Emu2, EMI6	uc003uyo.1	Q96A83	OTTHUMG00000150033		7.37:g.101200762G>A			100987482	NM_133457	Q32M90	Silent	SNP	ENST00000397927.3	37																																																																																					0.647	COL26A1-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000315898.2	NM_133457	
SRPK2	6733	broad.mit.edu	37	7	104758318	104758318	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr7:104758318G>A	ENST00000393651.3	-	16	2154	c.2067C>T	c.(2065-2067)ggC>ggT	p.G689G	SRPK2_ENST00000489828.1_Silent_p.G678G|SRPK2_ENST00000493638.1_5'Flank|SRPK2_ENST00000357311.3_Silent_p.G678G	NM_182692.1	NP_872634.1			SRSF protein kinase 2									p.G678G(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						GAAGGCATTCGCCAGCTGAGG	0.448																																					p.G678G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2034T	7						.						65.0	64.0	64.0					7																	104758318		2203	4300	6503	104545554	SO:0001819	synonymous_variant	6733	exon15			U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"""SR protein kinase 2"", ""serine/arginine-rich splicing factor kinase 2"""	602980	"""SFRS protein kinase 2"""			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.2067C>T	7.37:g.104758318G>A			104545554	NM_182691		Silent	SNP	ENST00000393651.3	37	CCDS34724.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.190|4.190	0.033970|0.033970	0.08101|0.08101	.|.	.|.	ENSG00000135250|ENSG00000135250	ENST00000474770|ENST00000477925	.|.	.|.	.|.	5.96|5.96	0.594|0.594	0.17485|0.17485	.|.	.|.	.|.	.|.	.|.	T|.	0.51856|.	0.1699|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.38802|.	-0.9644|.	4|.	.|.	.|.	.|.	-9.8658|-9.8658	6.1366|6.1366	0.20237|0.20237	0.3708:0.0:0.4751:0.1542|0.3708:0.0:0.4751:0.1542	.|.	.|.	.|.	.|.	V|X	194|285	.|.	.|.	A|R	-|-	2|1	0|2	SRPK2|SRPK2	104545554|104545554	0.958000|0.958000	0.32768|0.32768	0.999000|0.999000	0.59377|0.59377	0.977000|0.977000	0.68977|0.68977	0.046000|0.046000	0.14035|0.14035	0.141000|0.141000	0.18875|0.18875	-0.812000|-0.812000	0.03155|0.03155	GCG|CGA		0.448	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348723.1	NM_182691	
PIK3CG	5294	broad.mit.edu	37	7	106508961	106508961	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr7:106508961A>T	ENST00000359195.3	+	2	1265	c.955A>T	c.(955-957)Agg>Tgg	p.R319W	PIK3CG_ENST00000440650.2_Missense_Mutation_p.R319W|PIK3CG_ENST00000496166.1_Missense_Mutation_p.R319W	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	319					adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R319W(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						AGACGAGGTGAGGAAGGAAGA	0.582																																					p.R319W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A955T	7						.						67.0	61.0	63.0					7																	106508961		2203	4300	6503	106296197	SO:0001583	missense	5294	exon2				CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.955A>T	7.37:g.106508961A>T	ENSP00000352121:p.Arg319Trp		106296197	NM_002649	A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	A	12.91	2.079530	0.36662	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.70749	-0.51;-0.51;-0.51	5.6	3.05	0.35203	.	0.094754	0.64402	D	0.000001	T	0.62938	0.2469	L	0.29908	0.895	0.43777	D	0.9963	P	0.43392	0.805	P	0.46049	0.502	T	0.61466	-0.7057	10	0.38643	T	0.18	-20.9324	12.3889	0.55348	0.4734:0.5266:0.0:0.0	.	319	P48736	PK3CG_HUMAN	W	319	ENSP00000392258:R319W;ENSP00000419260:R319W;ENSP00000352121:R319W	ENSP00000352121:R319W	R	+	1	2	PIK3CG	106296197	1.000000	0.71417	1.000000	0.80357	0.265000	0.26407	2.822000	0.48073	0.927000	0.37143	0.459000	0.35465	AGG		0.582	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1		
LAMB1	3912	broad.mit.edu	37	7	107613440	107613440	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr7:107613440T>C	ENST00000222399.6	-	13	1789	c.1559A>G	c.(1558-1560)aAc>aGc	p.N520S	LAMB1_ENST00000393561.1_Missense_Mutation_p.N544S|LAMB1_ENST00000393560.1_Missense_Mutation_p.N520S	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	520	Laminin EGF-like 5; truncated. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)	p.N520S(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						CATTTACCTGTTGTTTAAGGC	0.458																																					p.N520S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1559G	7						.						217.0	163.0	182.0					7																	107613440		2203	4300	6503	107400676	SO:0001583	missense	3912	exon13			M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.1559A>G	7.37:g.107613440T>C	ENSP00000222399:p.Asn520Ser		107400676	NM_002291	Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	T	12.49	1.954159	0.34471	.	.	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560	T;T;T	0.60171	0.21;0.21;0.21	6.03	4.88	0.63580	EGF-like, laminin (3);	.	.	.	.	T	0.51398	0.1672	L	0.39085	1.19	0.58432	D	0.999999	B;B;B	0.23316	0.004;0.083;0.066	B;B;B	0.34180	0.04;0.177;0.086	T	0.45571	-0.9252	9	0.36615	T	0.2	.	12.0891	0.53715	0.0:0.0667:0.0:0.9333	.	520;520;544	E7EPA6;P07942;G3XAI2	.;LAMB1_HUMAN;.	S	544;520;520	ENSP00000377191:N544S;ENSP00000222399:N520S;ENSP00000377190:N520S	ENSP00000222399:N520S	N	-	2	0	LAMB1	107400676	1.000000	0.71417	0.992000	0.48379	0.221000	0.24807	4.876000	0.63079	1.103000	0.41568	0.533000	0.62120	AAC		0.458	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291	
CFTR	1080	broad.mit.edu	37	7	117243763	117243763	+	Silent	SNP	G	G	A	rs193922513		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr7:117243763G>A	ENST00000003084.6	+	17	2967	c.2835G>A	c.(2833-2835)tcG>tcA	p.S945S	CFTR_ENST00000454343.1_Silent_p.S884S|AC000111.6_ENST00000456270.1_RNA	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	945	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)	p.S945S(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	TCACAGTGTCGAAAATTTTAC	0.398									Cystic Fibrosis				G|||	1	0.000199681	0.0	0.0	5008	,	,		21248	0.0		0.0	False		,,,				2504	0.001				p.S945S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2835A	7						.						165.0	153.0	157.0					7																	117243763		2203	4300	6503	117030999	SO:0001819	synonymous_variant	1080	exon17	Familial Cancer Database	CF	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.2835G>A	7.37:g.117243763G>A			117030999	NM_000492	Q20BG8|Q20BH2|Q2I0A1|Q2I102	Silent	SNP	ENST00000003084.6	37	CCDS5773.1																																																																																				0.398	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492	
LMOD2	442721	broad.mit.edu	37	7	123302396	123302396	+	Silent	SNP	C	C	T	rs573835086		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr7:123302396C>T	ENST00000458573.2	+	2	913	c.756C>T	c.(754-756)gcC>gcT	p.A252A	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	252						cytoskeleton (GO:0005856)		p.A252A(1)									ACACGCATGCCGACGACAGTG	0.512																																					p.A252A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C756T	7						.						79.0	79.0	79.0					7																	123302396		2169	4253	6422	123089632	SO:0001819	synonymous_variant	442721	exon2			AC006333	CCDS47693.1	7q31.32	2008-08-08			ENSG00000170807	ENSG00000170807			6648	protein-coding gene	gene with protein product		608006					Standard	NM_207163		Approved		uc003vky.2	Q6P5Q4	OTTHUMG00000157149	ENST00000458573.2:c.756C>T	7.37:g.123302396C>T			123089632	NM_207163	A4D0W9|A4D0Y2|Q8WVJ8	Silent	SNP	ENST00000458573.2	37	CCDS47693.1																																																																																				0.512	LMOD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348525.1		
CCDC136	64753	broad.mit.edu	37	7	128452100	128452100	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr7:128452100C>T	ENST00000297788.4	+	13	2642	c.2275C>T	c.(2275-2277)Cgc>Tgc	p.R759C	CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000378685.4_Intron	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	759						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.R759C(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						TGAGAACTGTCGCAAGACTTA	0.473																																					p.R759C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2275T	7						.						101.0	100.0	101.0					7																	128452100		2055	4209	6264	128239336	SO:0001583	missense	64753	exon13				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.2275C>T	7.37:g.128452100C>T	ENSP00000297788:p.Arg759Cys		128239336	NM_022742	A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Missense_Mutation	SNP	ENST00000297788.4	37	CCDS47704.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.635519	0.47049	.	.	ENSG00000128596	ENST00000297788;ENST00000397697;ENST00000320524;ENST00000464672	T	0.32023	1.47	4.75	0.209	0.15226	.	1.113020	0.06774	N	0.784052	T	0.28366	0.0701	L	0.36672	1.1	0.09310	N	1	P;P;D	0.60160	0.923;0.825;0.987	B;B;P	0.47705	0.339;0.157;0.555	T	0.23368	-1.0190	10	0.56958	D	0.05	-0.0282	5.3234	0.15893	0.0:0.3993:0.4008:0.1998	.	759;759;759	Q96JN2-4;Q96JN2-2;Q96JN2	.;.;CC136_HUMAN	C	759;759;759;350	ENSP00000297788:R759C	ENSP00000297788:R759C	R	+	1	0	CCDC136	128239336	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.533000	0.06157	0.169000	0.19679	-0.186000	0.12905	CGC		0.473	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742	
FLNC	2318	broad.mit.edu	37	7	128486893	128486893	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr7:128486893G>T	ENST00000325888.8	+	24	4483	c.4222G>T	c.(4222-4224)Gag>Tag	p.E1408*	FLNC_ENST00000346177.6_Nonsense_Mutation_p.E1408*	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1408					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)	p.E1408*(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CTGCACCGTGGAGTACATCCC	0.622																																					p.E1408X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G4222T	7						.						83.0	87.0	86.0					7																	128486893		2063	4204	6267	128274129	SO:0001587	stop_gained	2318	exon24			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.4222G>T	7.37:g.128486893G>T	ENSP00000327145:p.Glu1408*		128274129	NM_001458	B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Nonsense_Mutation	SNP	ENST00000325888.8	37	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	46	12.579064	0.99680	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	.	.	.	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	17.8324	0.88686	0.0:0.0:1.0:0.0	.	.	.	.	X	1408	.	ENSP00000327145:E1408X	E	+	1	0	FLNC	128274129	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.779000	0.99018	2.286000	0.76751	0.561000	0.74099	GAG		0.622	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3		
PODXL	5420	broad.mit.edu	37	7	131196135	131196135	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr7:131196135A>G	ENST00000378555.3	-	2	405	c.158T>C	c.(157-159)gTc>gCc	p.V53A	PODXL_ENST00000537928.1_Missense_Mutation_p.V53A|PODXL_ENST00000465001.1_5'UTR|PODXL_ENST00000322985.9_Missense_Mutation_p.V53A|PODXL_ENST00000541194.1_Missense_Mutation_p.V55A			O00592	PODXL_HUMAN	podocalyxin-like	53	Thr-rich.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)		p.V53A(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					CATGATGGTGACACTGGATGC	0.527																																					p.V53A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T158C	7						.						204.0	199.0	200.0					7																	131196135		2203	4300	6503	130846675	SO:0001583	missense	5420	exon2				CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.158T>C	7.37:g.131196135A>G	ENSP00000367817:p.Val53Ala		130846675	NM_001018111	A6NHX8|Q52LZ7|Q53ER6	Missense_Mutation	SNP	ENST00000378555.3	37	CCDS34755.1	.	.	.	.	.	.	.	.	.	.	A	10.28	1.306877	0.23821	.	.	ENSG00000128567	ENST00000541194;ENST00000537928;ENST00000544955;ENST00000378555;ENST00000322985	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	2.95	-3.66	0.04489	.	.	.	.	.	T	0.17789	0.0427	N	0.14661	0.345	0.09310	N	1	B;B	0.22414	0.069;0.041	B;B	0.21151	0.033;0.015	T	0.29701	-1.0003	9	0.02654	T	1	4.9782	0.0536	0.00013	0.3304:0.19:0.1778:0.3019	.	53;53	O00592-2;O00592	.;PODXL_HUMAN	A	55;53;43;53;53	ENSP00000440518:V55A;ENSP00000442655:V53A;ENSP00000367817:V53A;ENSP00000319782:V53A	ENSP00000319782:V53A	V	-	2	0	PODXL	130846675	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.423000	0.01030	-0.846000	0.04174	-0.480000	0.04831	GTC		0.527	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111	
CALD1	800	broad.mit.edu	37	7	134617817	134617817	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr7:134617817C>T	ENST00000361675.2	+	5	526	c.297C>T	c.(295-297)cgC>cgT	p.R99R	CALD1_ENST00000543443.1_Silent_p.R104R|CALD1_ENST00000361388.2_Silent_p.R99R|CALD1_ENST00000495522.1_Silent_p.R93R|CALD1_ENST00000422748.1_Silent_p.R99R|CALD1_ENST00000393118.2_Silent_p.R93R|CALD1_ENST00000417172.1_Silent_p.R99R|CALD1_ENST00000361901.2_Silent_p.R99R|CALD1_ENST00000424922.1_Silent_p.R93R			Q05682	CALD1_HUMAN	caldesmon 1	99	Myosin and calmodulin-binding. {ECO:0000250}.				cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)	p.R99R(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						TCCTGGAGCGCCTGGCTCGGC	0.552																																					p.R99R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C297T	7						.						57.0	50.0	52.0					7																	134617817		2203	4300	6503	134268357	SO:0001819	synonymous_variant	800	exon5			M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.297C>T	7.37:g.134617817C>T			134268357	NM_033157	A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Silent	SNP	ENST00000361675.2	37	CCDS5835.1																																																																																				0.552	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1	NM_033138	
C7orf49	78996	broad.mit.edu	37	7	134851453	134851453	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr7:134851453C>T	ENST00000393114.3	-	4	565	c.384G>A	c.(382-384)ccG>ccA	p.P128P	C7orf49_ENST00000459937.1_Intron|C7orf49_ENST00000483029.2_Silent_p.P73P|C7orf49_ENST00000424142.1_Silent_p.P73P|RP11-134L10.1_ENST00000608819.1_RNA|C7orf49_ENST00000430372.1_Silent_p.P127P			Q9BWK5	MRI_HUMAN	chromosome 7 open reading frame 49	128						cytoplasm (GO:0005737)		p.P100P(1)		endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						TGGAACCCCCCGGCCTCTGGG	0.592																																					p.P128P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G384A	7						.						58.0	68.0	65.0					7																	134851453		2203	4300	6503	134501993	SO:0001819	synonymous_variant	78996	exon4			BC000168	CCDS5838.2, CCDS59082.1, CCDS75663.1	7q33	2011-12-09			ENSG00000122783	ENSG00000122783			22432	protein-coding gene	gene with protein product	"""modulator of retrovirus infection"""					17043244	Standard	NM_001243755		Approved	MGC5242, FLJ27285, FLJ22450, MRI	uc003vsh.3	Q9BWK5	OTTHUMG00000155447	ENST00000393114.3:c.384G>A	7.37:g.134851453C>T			134501993	NM_024033	Q6NWZ4|Q6ZNR5	Silent	SNP	ENST00000393114.3	37	CCDS5838.2																																																																																				0.592	C7orf49-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340145.1	NM_024033	
TRIM24	8805	broad.mit.edu	37	7	138261152	138261152	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr7:138261152A>G	ENST00000343526.4	+	13	2264	c.2049A>G	c.(2047-2049)atA>atG	p.I683M	TRIM24_ENST00000415680.2_Missense_Mutation_p.I649M			O15164	TIF1A_HUMAN	tripartite motif containing 24	683					calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I649M(1)|p.I683M(1)		breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						ACCCCCCAATACGTTCACCTA	0.393																																					p.I649M	Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1947G	7						.						146.0	133.0	137.0					7																	138261152		2203	4300	6503	137911692	SO:0001583	missense	8805	exon13			AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	11812	protein-coding gene	gene with protein product		603406	"""transcriptional intermediary factor 1"", ""tripartite motif-containing 24"""	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.2049A>G	7.37:g.138261152A>G	ENSP00000340507:p.Ile683Met		137911692	NM_003852	A4D1R7|A4D1R8|O95854	Missense_Mutation	SNP	ENST00000343526.4	37	CCDS5847.1	.	.	.	.	.	.	.	.	.	.	A	19.76	3.887161	0.72410	.	.	ENSG00000122779	ENST00000343526;ENST00000536822;ENST00000415680	T;T	0.76316	-1.01;-1.0	6.07	-0.699	0.11277	.	0.128418	0.64402	D	0.000001	T	0.65657	0.2712	N	0.14661	0.345	0.35889	D	0.829542	P;P	0.47545	0.855;0.897	B;P	0.56514	0.288;0.8	T	0.64067	-0.6494	10	0.33141	T	0.24	-14.1044	2.7304	0.05225	0.4834:0.1973:0.0656:0.2538	.	683;649	O15164;O15164-2	TIF1A_HUMAN;.	M	683;594;649	ENSP00000340507:I683M;ENSP00000390829:I649M	ENSP00000340507:I683M	I	+	3	3	TRIM24	137911692	0.951000	0.32395	1.000000	0.80357	0.997000	0.91878	-0.035000	0.12205	0.133000	0.18654	0.533000	0.62120	ATA		0.393	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341814.1	NM_015905	
HIPK2	28996	broad.mit.edu	37	7	139268623	139268623	+	Missense_Mutation	SNP	C	C	T	rs200640941		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr7:139268623C>T	ENST00000406875.3	-	13	2999	c.2905G>A	c.(2905-2907)Gtg>Atg	p.V969M	HIPK2_ENST00000342645.6_Missense_Mutation_p.V869M|HIPK2_ENST00000428878.2_Missense_Mutation_p.V942M	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	969	Interaction with AXIN1. {ECO:0000250}.|Required for localization to nuclear speckles. {ECO:0000250}.				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)	p.V969M(1)		breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					AGGGGTGGCACGATGATGGTT	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		18262	0.0		0.001	False		,,,				2504	0.0				p.V969M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2905A	7						.	C	MET/VAL,MET/VAL	0,4054		0,0,2027	71.0	72.0	72.0		1774,1855	4.8	1.0	7		72	1,8359		0,1,4179	yes	missense,missense	HIPK2	NM_001113239.2,NM_022740.4	21,21	0,1,6206	TT,TC,CC		0.012,0.0,0.0081	probably-damaging,probably-damaging	592/822,619/849	139268623	1,12413	2027	4180	6207	138919163	SO:0001583	missense	28996	exon13			AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"""homeodomain-interacting protein kinase 2"""			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.2905G>A	7.37:g.139268623C>T	ENSP00000385571:p.Val969Met		138919163	NM_022740	Q75MR7|Q8WWI4|Q9H2Y1	Missense_Mutation	SNP	ENST00000406875.3	37		.	.	.	.	.	.	.	.	.	.	C	15.02	2.709054	0.48517	0.0	1.2E-4	ENSG00000064393	ENST00000406875;ENST00000428878;ENST00000342645	T;T;T	0.68025	0.35;0.37;-0.3	4.77	4.77	0.60923	.	.	.	.	.	T	0.73636	0.3612	.	.	.	0.43824	D	0.996394	P;D	0.54397	0.943;0.966	B;P	0.50570	0.441;0.644	T	0.77392	-0.2605	8	0.56958	D	0.05	.	17.981	0.89141	0.0:1.0:0.0:0.0	.	969;942	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	M	969;942;869	ENSP00000385571:V969M;ENSP00000413724:V942M;ENSP00000343108:V869M	ENSP00000343108:V869M	V	-	1	0	HIPK2	138919163	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.282000	0.51693	2.497000	0.84241	0.655000	0.94253	GTG		0.592	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	NM_022740	
TBXAS1	6916	broad.mit.edu	37	7	139655336	139655336	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr7:139655336G>T	ENST00000336425.5	+	11	1007	c.618G>T	c.(616-618)gaG>gaT	p.E206D	TBXAS1_ENST00000425687.1_Missense_Mutation_p.E139D|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000414508.2_Missense_Mutation_p.E207D|TBXAS1_ENST00000416849.2_Missense_Mutation_p.E253D|TBXAS1_ENST00000458722.1_Missense_Mutation_p.E252D|TBXAS1_ENST00000411653.1_Missense_Mutation_p.E206D|TBXAS1_ENST00000436047.2_Missense_Mutation_p.E207D|TBXAS1_ENST00000448866.1_Missense_Mutation_p.E206D|TBXAS1_ENST00000263552.6_Missense_Mutation_p.E207D			P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	206					arachidonic acid metabolic process (GO:0019369)|cellular chloride ion homeostasis (GO:0030644)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|positive regulation of vasoconstriction (GO:0045907)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|thromboxane-A synthase activity (GO:0004796)	p.E207D(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)				Ridogrel(DB01207)|Sulfasalazine(DB00795)	AGGCCCCTGAGGATCCCTTTG	0.582																																					p.E207D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G621T	7						.						77.0	82.0	80.0					7																	139655336		2203	4300	6503	139301805	SO:0001583	missense	6916	exon7			L36085	CCDS5855.1, CCDS5856.1, CCDS55174.1, CCDS55175.1	7q34-q35	2014-09-17	2008-07-31		ENSG00000059377	ENSG00000059377	5.3.99.5	"""Cytochrome P450s"""	11609	protein-coding gene	gene with protein product	"""cytochrome P450, family 5, subfamily A, polypeptide 1"""	274180	"""thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)"""			1714723, 8964509	Standard	NM_001061		Approved	CYP5, CYP5A1, THAS, TXS, TXAS, TS	uc011kqv.2	P24557	OTTHUMG00000157302	ENST00000336425.5:c.618G>T	7.37:g.139655336G>T	ENSP00000338087:p.Glu206Asp		139301805	NM_001061	B4DJG6|E7EMU9|E7EP08|E7ESB5|O14987|Q16843|Q16844|Q8IUN1|Q96CN2|Q9GZW4|Q9HD77|Q9HD78|Q9HD79|Q9HD80|Q9HD81|Q9HD82|Q9HD83|Q9HD84	Missense_Mutation	SNP	ENST00000336425.5	37		.	.	.	.	.	.	.	.	.	.	G	2.936	-0.220012	0.06061	.	.	ENSG00000059377	ENST00000425687;ENST00000263552;ENST00000336425;ENST00000416849;ENST00000436047;ENST00000414508;ENST00000448866;ENST00000458722;ENST00000411653	T;T;T;T;T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38	5.91	0.664	0.17890	.	0.314686	0.37348	N	0.002123	T	0.39708	0.1088	N	0.25485	0.75	0.09310	N	0.999994	B;B;B;B;B;B;B	0.12013	0.002;0.004;0.002;0.005;0.003;0.001;0.001	B;B;B;B;B;B;B	0.19946	0.015;0.027;0.004;0.01;0.017;0.006;0.006	T	0.13019	-1.0525	10	0.06236	T	0.91	.	1.4345	0.02341	0.2283:0.3149:0.3003:0.1565	.	187;253;158;139;207;207;206	B4DVP1;E7EP08;B4E0M5;E7ESB5;E7EMU9;Q53F23;P24557	.;.;.;.;.;.;THAS_HUMAN	D	139;207;206;253;207;207;206;252;206	ENSP00000388736:E139D;ENSP00000263552:E207D;ENSP00000338087:E206D;ENSP00000389414:E253D;ENSP00000392361:E207D;ENSP00000392702:E207D;ENSP00000402536:E206D;ENSP00000411274:E252D;ENSP00000411326:E206D	ENSP00000263552:E207D	E	+	3	2	TBXAS1	139301805	0.999000	0.42202	0.041000	0.18516	0.107000	0.19398	0.485000	0.22324	0.363000	0.24346	-0.136000	0.14681	GAG		0.582	TBXAS1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000348373.1		
MKRN1	23608	broad.mit.edu	37	7	140154430	140154430	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr7:140154430C>T	ENST00000255977.2	-	8	1560	c.1336G>A	c.(1336-1338)Gag>Aag	p.E446K	MKRN1_ENST00000437223.2_Missense_Mutation_p.E180K|MKRN1_ENST00000474576.1_Missense_Mutation_p.E382K	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	446					protein polyubiquitination (GO:0000209)		chromatin binding (GO:0003682)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E446K(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					AGCAACATCTCGCCCAGCTCA	0.478																																					p.E446K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1336A	7						.						113.0	90.0	98.0					7																	140154430		2203	4300	6503	139800899	SO:0001583	missense	23608	exon8			AF192784	CCDS5860.1, CCDS47725.1	7q34	2013-01-09	2008-08-13		ENSG00000133606	ENSG00000133606		"""RING-type (C3HC4) zinc fingers"""	7112	protein-coding gene	gene with protein product		607754				10843807	Standard	NM_013446		Approved	RNF61	uc003vvt.2	Q9UHC7	OTTHUMG00000157412	ENST00000255977.2:c.1336G>A	7.37:g.140154430C>T	ENSP00000255977:p.Glu446Lys		139800899	NM_013446	A4D1T7|B3KXB4|Q256Y7|Q59G11|Q6GSF1|Q9H0G0|Q9UEZ7|Q9UHW2	Missense_Mutation	SNP	ENST00000255977.2	37	CCDS5860.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.586540	0.66105	.	.	ENSG00000133606	ENST00000255977;ENST00000539898;ENST00000437223;ENST00000474576	T;T;T	0.31769	2.85;1.48;2.19	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.31451	0.0797	M	0.67397	2.05	0.80722	D	1	P	0.38788	0.647	B	0.24006	0.05	T	0.32508	-0.9904	10	0.56958	D	0.05	.	19.0564	0.93067	0.0:1.0:0.0:0.0	.	446	Q9UHC7	MKRN1_HUMAN	K	446;382;180;382	ENSP00000255977:E446K;ENSP00000439823:E180K;ENSP00000417863:E382K	ENSP00000255977:E446K	E	-	1	0	MKRN1	139800899	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.266000	0.78452	2.735000	0.93741	0.650000	0.86243	GAG		0.478	MKRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348752.1	NM_013446	
WEE2	494551	broad.mit.edu	37	7	141408744	141408744	+	Silent	SNP	C	C	T	rs373578717		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr7:141408744C>T	ENST00000397541.2	+	1	592	c.186C>T	c.(184-186)aaC>aaT	p.N62N	WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000465110.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	62					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.N62N(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)					CCCTTAGCAACGTGCATGAGC	0.502																																					p.N62N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C186T	7						.	C		0,3964		0,0,1982	176.0	174.0	175.0		186	-0.0	0.0	7		175	1,8307		0,1,4153	no	coding-synonymous	WEE2	NM_001105558.1		0,1,6135	TT,TC,CC		0.012,0.0,0.0081		62/568	141408744	1,12271	1982	4154	6136	141055213	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.186C>T	7.37:g.141408744C>T			141055213	NM_001105558		Silent	SNP	ENST00000397541.2	37	CCDS43660.1																																																																																				0.502	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349091.1	NM_001105558	
INTS1	26173	broad.mit.edu	37	7	1532687	1532687	+	Silent	SNP	C	C	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr7:1532687C>A	ENST00000404767.3	-	16	2209	c.2124G>T	c.(2122-2124)ctG>ctT	p.L708L	INTS1_ENST00000389470.4_Silent_p.L836L	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	708					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)		p.L836L(1)		autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GGTAGGTGCACAGATTCAGAA	0.642																																					p.L708L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2124T	7						.						116.0	118.0	118.0					7																	1532687		2080	4191	6271	1499213	SO:0001819	synonymous_variant	26173	exon16			AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.2124G>T	7.37:g.1532687C>A			1499213	NM_001080453	A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Silent	SNP	ENST00000404767.3	37	CCDS47526.1																																																																																				0.642	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1		
MGAM	8972	broad.mit.edu	37	7	141763376	141763376	+	Silent	SNP	C	C	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr7:141763376C>A	ENST00000549489.2	+	36	4430	c.4335C>A	c.(4333-4335)ccC>ccA	p.P1445P	MGAM_ENST00000475668.2_Silent_p.P1445P	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1445	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.P1445P(1)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACCACCCTCCCTACATGCCAC	0.557																																					p.P1445P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4335A	7						.						64.0	62.0	63.0					7																	141763376		1988	4151	6139	141409845	SO:0001819	synonymous_variant	8972	exon36			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.4335C>A	7.37:g.141763376C>A			141409845	NM_004668	Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000549489.2	37	CCDS47727.1																																																																																				0.557	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3		
GIMAP5	55340	broad.mit.edu	37	7	150439957	150439957	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr7:150439957C>T	ENST00000358647.3	+	3	1097	c.730C>T	c.(730-732)Cag>Tag	p.Q244*	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2	Q96F15	GIMA5_HUMAN	GTPase, IMAP family member 5	244					myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell activation (GO:0050868)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of membrane potential (GO:0045838)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|regulation of mitochondrial membrane permeability (GO:0046902)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|temperature homeostasis (GO:0001659)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)	p.Q244*(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGACTACAGGCAGTACCAGGC	0.572																																					p.Q448X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1342T	7						.						81.0	67.0	72.0					7																	150439957		2203	4300	6503	150070890	SO:0001587	stop_gained	55340	exon6			AK002158	CCDS5907.1	7q36.1	2014-04-04	2004-10-29	2004-10-30	ENSG00000196329	ENSG00000196329		"""GTPases, IMAP"""	18005	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 5"""	608086	"""immune associated nucleotide 4 like 1 (mouse)"""	IAN4L1			Standard	NM_018384		Approved	HIMAP3, IAN5		Q96F15	OTTHUMG00000157542	ENST00000358647.3:c.730C>T	7.37:g.150439957C>T	ENSP00000351473:p.Gln244*		150070890	NM_001199577	D3DWZ5|Q6IA75|Q96NE4|Q9NUK9	Nonsense_Mutation	SNP	ENST00000358647.3	37	CCDS5907.1	.	.	.	.	.	.	.	.	.	.	C	37	6.395835	0.97533	.	.	ENSG00000196329	ENST00000358647;ENST00000447239	.	.	.	4.12	-2.06	0.07298	.	5.187860	0.01916	U	0.040170	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	0.3769	0.00388	0.3564:0.2623:0.1574:0.2239	.	.	.	.	X	244;280	.	ENSP00000351473:Q244X	Q	+	1	0	GIMAP5	150070890	0.000000	0.05858	0.007000	0.13788	0.654000	0.38779	-1.898000	0.01602	-0.202000	0.10268	0.557000	0.71058	CAG		0.572	GIMAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349108.2	NM_018384	
SLC4A2	6522	broad.mit.edu	37	7	150765114	150765114	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr7:150765114C>T	ENST00000485713.1	+	8	2160	c.1120C>T	c.(1120-1122)Ctg>Ttg	p.L374L	SLC4A2_ENST00000413384.2_Silent_p.L374L|SLC4A2_ENST00000392826.2_Silent_p.L365L|SLC4A2_ENST00000310317.5_Silent_p.L292L|SLC4A2_ENST00000461735.1_Silent_p.L360L	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	374					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)	p.L374L(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCGCAGTCTCCTGGAGCTCCG	0.642																																					p.L360L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1078T	7						.						26.0	27.0	27.0					7																	150765114		2199	4293	6492	150396047	SO:0001819	synonymous_variant	6522	exon7				CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"""Solute carriers"""	11028	protein-coding gene	gene with protein product	"""anion exchanger 2 type a"", ""anion exchanger 2 type b1"", ""anion exchanger 2 type b2"""	109280	"""erythrocyte membrane protein band 3-like 1"", ""solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"""	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.1120C>T	7.37:g.150765114C>T			150396047	NM_001199694	B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Silent	SNP	ENST00000485713.1	37	CCDS5917.1																																																																																				0.642	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040	
GALNT11	63917	broad.mit.edu	37	7	151815785	151815785	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	A	A	A	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr7:151815785A>G	ENST00000434507.1	+	12	1912	c.1475A>G	c.(1474-1476)aAa>aGa	p.K492R	GALNT11_ENST00000452146.2_Missense_Mutation_p.K411R|GALNT11_ENST00000320311.2_Missense_Mutation_p.K492R|RP5-981O7.2_ENST00000424630.1_RNA|GALNT11_ENST00000430044.2_Missense_Mutation_p.K492R			Q8NCW6	GLT11_HUMAN	polypeptide N-acetylgalactosaminyltransferase 11	492	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via threonine (GO:0018243)|regulation of Notch signaling pathway (GO:0008593)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|Notch binding (GO:0005112)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		CAGACCAACAAATGCCTGGTG	0.572																																					p.K492R												.	.	0			c.A1475G	7						.						77.0	67.0	71.0					7																	151815785		2203	4300	6503	151446718	SO:0001583	missense	63917	exon10			AC006017	CCDS5930.1	7q36.1	2014-05-09	2014-05-09		ENSG00000178234	ENSG00000178234	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19875	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 11"""	615130	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)"""			11925450	Standard	NM_022087		Approved	GalNAc-T11	uc010lqg.1	Q8NCW6	OTTHUMG00000157251	ENST00000434507.1:c.1475A>G	7.37:g.151815785A>G	ENSP00000416787:p.Lys492Arg		151446718	NM_022087	B3KWF4|Q6PCD1|Q9H6C2|Q9H6Z5|Q9UDR8	Missense_Mutation	SNP	ENST00000434507.1	37	CCDS5930.1	.	.	.	.	.	.	.	.	.	.	A	6.634	0.485500	0.12641	.	.	ENSG00000178234	ENST00000430044;ENST00000452146;ENST00000443352;ENST00000434507;ENST00000320311	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	4.99	2.6	0.31112	Ricin B-related lectin (1);Ricin B lectin (3);	0.354725	0.26887	N	0.021997	T	0.21801	0.0525	L	0.41027	1.25	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.11329	0.006;0.006	T	0.06162	-1.0842	10	0.22706	T	0.39	.	8.1079	0.30896	0.8397:0.0:0.1603:0.0	.	411;492	B7Z5G5;Q8NCW6	.;GLT11_HUMAN	R	492;411;492;492;492	ENSP00000395122:K492R;ENSP00000393399:K411R;ENSP00000416787:K492R;ENSP00000315835:K492R	ENSP00000315835:K492R	K	+	2	0	GALNT11	151446718	0.996000	0.38824	0.993000	0.49108	0.875000	0.50365	1.808000	0.38912	0.256000	0.21614	-0.490000	0.04691	AAA		0.572	GALNT11-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348184.1	NM_022087	
KMT2C	58508	broad.mit.edu	37	7	151917681	151917681	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr7:151917681G>A	ENST00000262189.6	-	23	3857	c.3639C>T	c.(3637-3639)agC>agT	p.S1213S	KMT2C_ENST00000355193.2_Silent_p.S1213S	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1213					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.S1213S(2)									GGACGGCCACGCTATTCTGAT	0.398																																					p.S1213S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C3639T	7						.						92.0	86.0	88.0					7																	151917681		2203	4300	6503	151548614	SO:0001819	synonymous_variant	58508	exon23			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.3639C>T	7.37:g.151917681G>A			151548614	NM_170606	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	CCDS5931.1																																																																																				0.398	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		
PAXIP1	22976	broad.mit.edu	37	7	154760285	154760285	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr7:154760285C>G	ENST00000404141.1	-	7	1780	c.1626G>C	c.(1624-1626)caG>caC	p.Q542H	PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Missense_Mutation_p.Q542H			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	542	Gln-rich.			Missing (in Ref. 4; AAB91434). {ECO:0000305}.	adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)		p.Q508H(1)		NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		gctgctgctgctggtgcatgc	0.627																																					p.Q542H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1626C	7						.						13.0	13.0	13.0					7																	154760285		1934	3626	5560	154391218	SO:0001583	missense	22976	exon7			U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"""PAX transcription activation domain interacting protein 1 like"""	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.1626G>C	7.37:g.154760285C>G	ENSP00000384048:p.Gln542His		154391218	NM_007349	O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Missense_Mutation	SNP	ENST00000404141.1	37	CCDS47753.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.548436	0.27652	.	.	ENSG00000157212	ENST00000404141;ENST00000397192;ENST00000323199	T;T	0.48201	0.82;0.82	4.96	-3.3	0.05003	.	0.298320	0.23000	N	0.053095	T	0.26593	0.0650	N	0.19112	0.55	0.25352	N	0.988853	B;B;B;B	0.14012	0.001;0.009;0.002;0.001	B;B;B;B	0.12156	0.003;0.007;0.007;0.003	T	0.11991	-1.0565	10	0.45353	T	0.12	-3.9012	9.2332	0.37450	0.0:0.4209:0.4486:0.1305	.	495;451;508;542	B4DEQ6;Q6ZW49-3;Q6ZW49-1;Q6ZW49	.;.;.;PAXI1_HUMAN	H	542;542;495	ENSP00000384048:Q542H;ENSP00000380376:Q542H	ENSP00000319149:Q495H	Q	-	3	2	PAXIP1	154391218	0.712000	0.27916	0.413000	0.26509	0.911000	0.54048	0.051000	0.14141	-0.530000	0.06349	-0.357000	0.07601	CAG		0.627	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322223.1	NM_007349	
MNX1	3110	broad.mit.edu	37	7	156798451	156798451	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr7:156798451G>A	ENST00000252971.6	-	3	1269	c.969C>T	c.(967-969)ggC>ggT	p.G323G	MNX1-AS2_ENST00000429228.1_RNA|MNX1_ENST00000543409.1_Silent_p.G111G|MNX1_ENST00000469500.1_Intron	NM_005515.3	NP_005506.3	P50219	MNX1_HUMAN	motor neuron and pancreas homeobox 1	323	Poly-Gly.				anatomical structure morphogenesis (GO:0009653)|diaphragm development (GO:0060539)|dorsal/ventral neural tube patterning (GO:0021904)|endocrine pancreas development (GO:0031018)|humoral immune response (GO:0006959)|motor neuron axon guidance (GO:0008045)|nerve development (GO:0021675)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G323G(1)		endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTCCGCGCCGCCCTTccccg	0.711																																					p.G111G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C333T	7						.						13.0	16.0	15.0					7																	156798451		2169	4251	6420	156491212	SO:0001819	synonymous_variant	3110	exon3			AF107457	CCDS34788.1, CCDS55187.1	7q36	2012-03-09	2007-08-09	2007-08-09	ENSG00000130675	ENSG00000130675		"""Homeoboxes / ANTP class : HOXL subclass"""	4979	protein-coding gene	gene with protein product		142994	"""homeo box HB9"", ""homeobox HB9"""	HLXB9		9843207	Standard	NM_001165255		Approved	HB9, HOXHB9, SCRA1	uc003wmz.4	P50219	OTTHUMG00000157181	ENST00000252971.6:c.969C>T	7.37:g.156798451G>A			156491212	NM_001165255	F5H401|Q9Y648	Silent	SNP	ENST00000252971.6	37	CCDS34788.1																																																																																				0.711	MNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347796.3		
UBE3C	9690	broad.mit.edu	37	7	156976675	156976675	+	Silent	SNP	C	C	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr7:156976675C>A	ENST00000348165.5	+	9	1455	c.1095C>A	c.(1093-1095)gcC>gcA	p.A365A	UBE3C_ENST00000389103.4_Silent_p.A322A	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	365					protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.A365A(1)		central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		ACGACTCAGCCAGTGACTCTG	0.632																																					p.A365A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1095A	7						.						97.0	108.0	105.0					7																	156976675		2203	4300	6503	156669436	SO:0001819	synonymous_variant	9690	exon9			AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.1095C>A	7.37:g.156976675C>A			156669436	NM_014671	A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Silent	SNP	ENST00000348165.5	37	CCDS34789.1																																																																																				0.632	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671	
PTPRN2	5799	broad.mit.edu	37	7	157985171	157985171	+	Missense_Mutation	SNP	C	C	T	rs140977880	byFrequency	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr7:157985171C>T	ENST00000389418.4	-	5	406	c.397G>A	c.(397-399)Gtt>Att	p.V133I	PTPRN2_ENST00000409483.1_Missense_Mutation_p.V95I|PTPRN2_ENST00000389413.3_Missense_Mutation_p.V133I|PTPRN2_ENST00000404321.2_Missense_Mutation_p.V156I|PTPRN2_ENST00000389416.4_Missense_Mutation_p.V116I	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	133					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.V133I(2)|p.V133F(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TCGCTGCCAACGCTGTGTTTT	0.632													C|||	13	0.00259585	0.0091	0.0014	5008	,	,		16991	0.0		0.0	False		,,,				2504	0.0				p.V133I												.	.	3	Substitution - Missense(3)	lung(2)|large_intestine(1)	c.G397A	7						.		ILE/VAL,ILE/VAL,ILE/VAL	29,4377	33.5+/-64.1	0,29,2174	52.0	60.0	58.0		397,346,397	-1.7	0.0	7	dbSNP_134	58	1,8597		0,1,4298	yes	missense,missense,missense	PTPRN2	NM_002847.3,NM_130842.2,NM_130843.2	29,29,29	0,30,6472	TT,TC,CC		0.0116,0.6582,0.2307	benign,benign,benign	133/1016,116/999,133/987	157985171	30,12974	2203	4299	6502	157677932	SO:0001583	missense	5799	exon5			AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.397G>A	7.37:g.157985171C>T	ENSP00000374069:p.Val133Ile		157677932	NM_130843	E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	ENST00000389418.4	37	CCDS5947.1	9	0.004120879120879121	8	0.016260162601626018	1	0.0027624309392265192	0	0.0	0	0.0	C	0.853	-0.737946	0.03111	0.006582	1.16E-4	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T;T	0.03152	4.07;4.03;4.03;4.03;4.03	4.17	-1.7	0.08159	.	.	.	.	.	T	0.00936	0.0031	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B	0.13145	0.007;0.001;0.001;0.002;0.001	B;B;B;B;B	0.08055	0.003;0.001;0.002;0.001;0.001	T	0.48222	-0.9054	9	0.22109	T	0.4	.	4.3041	0.10938	0.0:0.3572:0.1746:0.4682	.	156;95;133;116;133	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	I	95;133;116;133;156	ENSP00000387114:V95I;ENSP00000374064:V133I;ENSP00000374067:V116I;ENSP00000374069:V133I;ENSP00000385464:V156I	ENSP00000374064:V133I	V	-	1	0	PTPRN2	157677932	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.145000	0.10265	-0.140000	0.11394	-1.933000	0.00509	GTT		0.632	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1		
EIF3B	8662	broad.mit.edu	37	7	2415065	2415065	+	Missense_Mutation	SNP	C	C	T	rs181409131		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr7:2415065C>T	ENST00000360876.4	+	14	1987	c.1931C>T	c.(1930-1932)aCg>aTg	p.T644M	EIF3B_ENST00000397011.2_Missense_Mutation_p.T644M	NM_001037283.1	NP_001032360.1			eukaryotic translation initiation factor 3, subunit B									p.T644M(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		TCGGACTGCACGGTCATGAAC	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		21269	0.001		0.0	False		,,,				2504	0.0				p.T644M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1931T	7						.						240.0	170.0	194.0					7																	2415065		2203	4300	6503	2381591	SO:0001583	missense	8662	exon14			U62583	CCDS5332.1	7p22	2013-02-12	2007-07-27	2007-07-27	ENSG00000106263	ENSG00000106263		"""RNA binding motif (RRM) containing"""	3280	protein-coding gene	gene with protein product		603917	"""eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa"""	EIF3S9		8995410	Standard	NM_001037283		Approved	PRT1, eIF3b	uc003sly.3	P55884	OTTHUMG00000022839	ENST00000360876.4:c.1931C>T	7.37:g.2415065C>T	ENSP00000354125:p.Thr644Met		2381591	NM_003751		Missense_Mutation	SNP	ENST00000360876.4	37	CCDS5332.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	17.35	3.368147	0.61513	.	.	ENSG00000106263	ENST00000314800;ENST00000360876;ENST00000397011;ENST00000489558	T;T	0.05996	3.36;3.36	5.33	5.33	0.75918	Translation initiation factor 2A, beta propellor-like domain (1);Six-bladed beta-propeller, TolB-like (1);	0.086879	0.85682	D	0.000000	T	0.20495	0.0493	L	0.58669	1.825	0.58432	D	0.999997	D	0.63880	0.993	P	0.61003	0.882	T	0.00096	-1.2075	10	0.54805	T	0.06	-28.6776	18.6191	0.91315	0.0:1.0:0.0:0.0	.	644	P55884	EIF3B_HUMAN	M	644;644;644;568	ENSP00000354125:T644M;ENSP00000380206:T644M	ENSP00000316638:T644M	T	+	2	0	EIF3B	2381591	1.000000	0.71417	0.993000	0.49108	0.930000	0.56654	7.665000	0.83852	2.501000	0.84356	0.561000	0.74099	ACG		0.562	EIF3B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207006.1		
SDK1	221935	broad.mit.edu	37	7	4153885	4153885	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr7:4153885C>T	ENST00000404826.2	+	25	3941	c.3802C>T	c.(3802-3804)Cgg>Tgg	p.R1268W	SDK1_ENST00000389531.3_Missense_Mutation_p.R1268W	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1268	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.R1268W(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CGAGGTGGTGCGGGGCCGGAC	0.642																																					p.R1268W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3802T	7						.						22.0	22.0	22.0					7																	4153885		2199	4299	6498	4120411	SO:0001583	missense	221935	exon25			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.3802C>T	7.37:g.4153885C>T	ENSP00000385899:p.Arg1268Trp		4120411	NM_152744	Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.344193	0.41498	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.54279	0.58;0.58	5.38	4.42	0.53409	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.096756	0.44483	D	0.000460	T	0.64571	0.2610	M	0.75615	2.305	0.18873	N	0.999984	D;D	0.76494	0.999;0.999	P;P	0.54924	0.764;0.634	T	0.59500	-0.7443	10	0.38643	T	0.18	.	14.9147	0.70785	0.2442:0.7558:0.0:0.0	.	1268;1268	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	W	1268	ENSP00000385899:R1268W;ENSP00000374182:R1268W	ENSP00000374182:R1268W	R	+	1	2	SDK1	4120411	0.488000	0.25996	0.993000	0.49108	0.504000	0.33889	1.183000	0.32041	2.507000	0.84556	0.655000	0.94253	CGG		0.642	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744	
FOXK1	221937	broad.mit.edu	37	7	4800738	4800738	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr7:4800738G>A	ENST00000328914.4	+	8	1740	c.1740G>A	c.(1738-1740)gcG>gcA	p.A580A	FOXK1_ENST00000446823.1_Silent_p.A417A	NM_001037165.1	NP_001032242.1			forkhead box K1									p.A580A(1)|p.A558A(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		CAATCCCCGCGGCTGGTGGAG	0.652																																					p.A580A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1740A	7						.						58.0	65.0	63.0					7																	4800738		2202	4300	6502	4767264	SO:0001819	synonymous_variant	221937	exon8			BK004104	CCDS34591.1	7p22	2006-12-15			ENSG00000164916	ENSG00000164916		"""Forkhead boxes"""	23480	protein-coding gene	gene with protein product						15202027	Standard	NM_001037165		Approved	IMAGE:5164497	uc003snc.1	P85037	OTTHUMG00000151739	ENST00000328914.4:c.1740G>A	7.37:g.4800738G>A			4767264	NM_001037165		Silent	SNP	ENST00000328914.4	37	CCDS34591.1																																																																																				0.652	FOXK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323729.2		
AP5Z1	9907	broad.mit.edu	37	7	4827359	4827359	+	Missense_Mutation	SNP	C	C	T	rs181396911		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr7:4827359C>T	ENST00000348624.4	+	11	1500	c.1406C>T	c.(1405-1407)gCg>gTg	p.A469V	MIR4656_ENST00000579503.1_RNA|AP5Z1_ENST00000401897.1_Missense_Mutation_p.A469V	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	469					cell death (GO:0008219)|double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-5 adaptor complex (GO:0044599)|AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.A313V(1)|p.A1180V(1)									ATGCTGCACGCGCTGCTGGAC	0.692																																					p.A469V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1406T	7						.						23.0	28.0	26.0					7																	4827359		2079	4113	6192	4793885	SO:0001583	missense	9907	exon11			AB007875	CCDS47528.1	7p22.1	2012-03-20	2012-03-20	2012-03-20	ENSG00000242802	ENSG00000242802			22197	protein-coding gene	gene with protein product		613653	"""KIAA0415"""	KIAA0415		20613862, 22022230	Standard	NM_014855		Approved	SPG48, zeta	uc003sne.3	O43299	OTTHUMG00000151754	ENST00000348624.4:c.1406C>T	7.37:g.4827359C>T	ENSP00000297562:p.Ala469Val		4793885	NM_014855	Q8N3X2|Q96H80	Missense_Mutation	SNP	ENST00000348624.4	37	CCDS47528.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	C	3.649	-0.072014	0.07228	.	.	ENSG00000242802	ENST00000348624;ENST00000401897	T;T	0.67171	-0.25;0.97	4.73	2.83	0.33086	.	0.656003	0.15144	N	0.278120	T	0.47930	0.1472	L	0.42245	1.32	0.09310	N	1	B	0.29037	0.231	B	0.14578	0.011	T	0.35126	-0.9801	10	0.02654	T	1	.	8.5095	0.33208	0.0:0.7241:0.0:0.2759	.	469	O43299	K0415_HUMAN	V	469	ENSP00000297562:A469V;ENSP00000384980:A469V	ENSP00000297562:A469V	A	+	2	0	KIAA0415	4793885	0.096000	0.21769	0.276000	0.24689	0.118000	0.20060	3.537000	0.53590	1.078000	0.41014	0.549000	0.68633	GCG		0.692	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323771.1		
DNAH11	8701	broad.mit.edu	37	7	21779241	21779241	+	Missense_Mutation	SNP	G	G	A	rs200462132		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr7:21779241G>A	ENST00000409508.3	+	48	7895	c.7864G>A	c.(7864-7866)Gcc>Acc	p.A2622T	DNAH11_ENST00000328843.6_Missense_Mutation_p.A2629T	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2629	AAA 3. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.A2629T(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CCAGTATGTCGCCTGCATGAA	0.423									Kartagener syndrome				G|||	1	0.000199681	0.0	0.0014	5008	,	,		18662	0.0		0.0	False		,,,				2504	0.0				p.R2629H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7886A	7						.						129.0	116.0	120.0					7																	21779241		1903	4120	6023	21745766	SO:0001583	missense	8701	exon48	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.7864G>A	7.37:g.21779241G>A	ENSP00000475939:p.Ala2622Thr		21745766	NM_003777	Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37		.	.	.	.	.	.	.	.	.	.	G	18.44	3.625391	0.66901	.	.	ENSG00000105877	ENST00000328843	T	0.50001	0.76	5.68	1.78	0.24846	ATPase, AAA+ type, core (1);	0.253392	0.43416	N	0.000578	T	0.37265	0.0997	.	.	.	0.37857	D	0.929576	P	0.43477	0.808	B	0.38655	0.278	T	0.34976	-0.9807	9	0.56958	D	0.05	.	9.5225	0.39145	0.2923:0.0:0.7077:0.0	.	2629	Q96DT5	DYH11_HUMAN	T	2629	ENSP00000330671:A2629T	ENSP00000330671:A2629T	A	+	1	0	DNAH11	21745766	0.835000	0.29415	0.356000	0.25785	0.936000	0.57629	1.159000	0.31749	0.309000	0.22966	0.655000	0.94253	GCC		0.423	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	
GPNMB	10457	broad.mit.edu	37	7	23299747	23299747	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr7:23299747C>T	ENST00000381990.2	+	5	851	c.690C>T	c.(688-690)taC>taT	p.Y230Y	GPNMB_ENST00000453162.2_Silent_p.Y172Y|GPNMB_ENST00000258733.4_Silent_p.Y230Y|GPNMB_ENST00000539136.1_Silent_p.Y131Y	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	230					bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)	p.Y230Y(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			AAGATGTGTACGTGGTAACAG	0.478																																					p.Y230Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C690T	7						.						148.0	136.0	140.0					7																	23299747		2203	4300	6503	23266272	SO:0001819	synonymous_variant	10457	exon5			X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"""transmembrane glycoprotein"", ""glycoprotein NMB"", ""glycoprotein nmb-like protein"", ""osteoactivin"""	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.690C>T	7.37:g.23299747C>T			23266272	NM_001005340	A4D155|Q6UVX1|Q8N1A1	Silent	SNP	ENST00000381990.2	37	CCDS34610.1																																																																																				0.478	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1	NM_001005340	
NME8	51314	broad.mit.edu	37	7	37901670	37901670	+	Missense_Mutation	SNP	C	C	T	rs567620217	byFrequency	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr7:37901670C>T	ENST00000199447.4	+	7	683	c.311C>T	c.(310-312)cCg>cTg	p.P104L	NME8_ENST00000440017.1_Missense_Mutation_p.P104L|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	104	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)	p.P104L(1)									GCAAATGCACCGCTTGTTAAT	0.373													C|||	2	0.000399361	0.0	0.0	5008	,	,		18315	0.0		0.0	False		,,,				2504	0.002				p.P104L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C311T	7						.						61.0	64.0	63.0					7																	37901670		2203	4300	6503	37868195	SO:0001583	missense	51314	exon7			AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.311C>T	7.37:g.37901670C>T	ENSP00000199447:p.Pro104Leu		37868195	NM_016616	Q9NZH1	Missense_Mutation	SNP	ENST00000199447.4	37	CCDS5452.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.150705	0.57151	.	.	ENSG00000086288	ENST00000199447;ENST00000455500;ENST00000444718;ENST00000440017	T;T	0.22743	1.94;1.94	5.63	4.76	0.60689	Thioredoxin-like fold (3);	0.000000	0.53938	D	0.000047	T	0.58278	0.2111	H	0.96015	3.755	0.53005	D	0.999967	D	0.89917	1.0	D	0.97110	1.0	T	0.70666	-0.4809	10	0.87932	D	0	-20.9281	11.7689	0.51947	0.0:0.9175:0.0:0.0825	.	104	Q8N427	TXND3_HUMAN	L	104;49;49;104	ENSP00000199447:P104L;ENSP00000397063:P104L	ENSP00000199447:P104L	P	+	2	0	TXNDC3	37868195	1.000000	0.71417	0.934000	0.37439	0.375000	0.29983	4.288000	0.59007	1.386000	0.46466	0.561000	0.74099	CCG		0.373	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616	
NME8	51314	broad.mit.edu	37	7	37923972	37923972	+	Silent	SNP	G	G	A	rs148479667		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr7:37923972G>A	ENST00000199447.4	+	13	1434	c.1062G>A	c.(1060-1062)tcG>tcA	p.S354S	NME8_ENST00000440017.1_Silent_p.S354S|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	354	NDK 2.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)	p.S354S(1)									TAGTATTATCGGAAAAAGAAG	0.289													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19975	0.0		0.0	False		,,,				2504	0.0				p.S354S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1062A	7						.	G		1,4405	2.1+/-5.4	0,1,2202	82.0	79.0	80.0		1062	-2.9	0.3	7	dbSNP_134	80	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous	TXNDC3	NM_016616.4		0,2,6497	AA,AG,GG		0.0116,0.0227,0.0154		354/589	37923972	2,12996	2203	4296	6499	37890497	SO:0001819	synonymous_variant	51314	exon13			AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.1062G>A	7.37:g.37923972G>A			37890497	NM_016616	Q9NZH1	Silent	SNP	ENST00000199447.4	37	CCDS5452.1																																																																																				0.289	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616	
AMPH	273	broad.mit.edu	37	7	38516520	38516520	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr7:38516520C>T	ENST00000356264.2	-	6	661	c.446G>A	c.(445-447)cGc>cAc	p.R149H	AMPH_ENST00000325590.5_Missense_Mutation_p.R149H|AMPH_ENST00000428293.2_Missense_Mutation_p.R149H	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	149	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)	p.R149H(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						CAGATGGTGGCGGGCACTGTC	0.493																																					p.R149H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G446A	7						.						125.0	109.0	115.0					7																	38516520		2203	4300	6503	38483045	SO:0001583	missense	273	exon6				CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.446G>A	7.37:g.38516520C>T	ENSP00000348602:p.Arg149His		38483045	NM_139316	A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	ENST00000356264.2	37	CCDS5456.1	.	.	.	.	.	.	.	.	.	.	C	34	5.291889	0.95546	.	.	ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000544070	T;T;T	0.68903	-0.36;-0.36;-0.36	5.52	5.52	0.82312	BAR (3);	0.000000	0.85682	D	0.000000	D	0.85678	0.5752	M	0.90145	3.09	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.88043	0.2782	10	0.87932	D	0	-12.0094	18.5675	0.91121	0.0:1.0:0.0:0.0	.	149;149	P49418-2;P49418	.;AMPH_HUMAN	H	149	ENSP00000317441:R149H;ENSP00000348602:R149H;ENSP00000390734:R149H	ENSP00000317441:R149H	R	-	2	0	AMPH	38483045	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.790000	0.75115	2.757000	0.94681	0.585000	0.79938	CGC		0.493	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635	
TNS3	64759	broad.mit.edu	37	7	47344502	47344502	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr7:47344502G>A	ENST00000398879.1	-	21	3116	c.2750C>T	c.(2749-2751)aCg>aTg	p.T917M	TNS3_ENST00000355730.3_Missense_Mutation_p.T677M|TNS3_ENST00000311160.9_Missense_Mutation_p.T917M			Q68CZ2	TENS3_HUMAN	tensin 3	917				T -> A (in Ref. 4; CAH18438). {ECO:0000305}.	cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)		p.T917M(1)		NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						AAAGGAGGGCGTCGAGGACGC	0.572																																					p.T917M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2750T	7						.						69.0	78.0	75.0					7																	47344502		2119	4249	6368	47311027	SO:0001583	missense	64759	exon21			AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.2750C>T	7.37:g.47344502G>A	ENSP00000381854:p.Thr917Met		47311027	NM_022748	B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	G	10.73	1.433165	0.25813	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000545849;ENST00000457718	D;D;D;D	0.94758	-3.04;-3.04;-3.51;-3.13	5.7	3.85	0.44370	.	0.877477	0.10020	N	0.726138	D	0.89234	0.6657	N	0.24115	0.695	0.09310	N	0.999994	D	0.54772	0.968	B	0.42062	0.374	T	0.80683	-0.1273	10	0.72032	D	0.01	-2.3908	7.6425	0.28303	0.0879:0.1658:0.7462:0.0	.	917	Q68CZ2	TENS3_HUMAN	M	917;1027;917;677;373;1020	ENSP00000312143:T917M;ENSP00000381854:T917M;ENSP00000347968:T677M;ENSP00000414358:T1020M	ENSP00000312143:T917M	T	-	2	0	TNS3	47311027	0.003000	0.15002	0.001000	0.08648	0.002000	0.02628	0.780000	0.26760	0.718000	0.32166	0.655000	0.94253	ACG		0.572	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748	
TNS3	64759	broad.mit.edu	37	7	47440391	47440391	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr7:47440391C>T	ENST00000398879.1	-	14	1210	c.844G>A	c.(844-846)Gcc>Acc	p.A282T	TNS3_ENST00000355730.3_Intron|TNS3_ENST00000311160.9_Missense_Mutation_p.A282T			Q68CZ2	TENS3_HUMAN	tensin 3	282	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)		p.A282T(1)		NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CCTTTGCTGGCATTGTCCAGA	0.587																																					p.A282T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G844A	7						.						75.0	92.0	86.0					7																	47440391		2070	4210	6280	47406916	SO:0001583	missense	64759	exon14			AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.844G>A	7.37:g.47440391C>T	ENSP00000381854:p.Ala282Thr		47406916	NM_022748	B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	C	22.3	4.269756	0.80469	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000457718;ENST00000450444	D;D;D;D	0.87491	-2.26;-2.26;-2.26;-2.26	4.99	4.99	0.66335	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.349704	0.28671	N	0.014525	D	0.91670	0.7367	M	0.68317	2.08	0.80722	D	1	D	0.63880	0.993	D	0.63113	0.911	D	0.91752	0.5413	10	0.49607	T	0.09	-37.3196	15.8183	0.78621	0.0:1.0:0.0:0.0	.	282	Q68CZ2	TENS3_HUMAN	T	282;392;282;385;371	ENSP00000312143:A282T;ENSP00000381854:A282T;ENSP00000414358:A385T;ENSP00000396914:A371T	ENSP00000312143:A282T	A	-	1	0	TNS3	47406916	1.000000	0.71417	0.487000	0.27428	0.966000	0.64601	4.414000	0.59802	2.337000	0.79520	0.456000	0.33151	GCC		0.587	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748	
DDC	1644	broad.mit.edu	37	7	50566900	50566900	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr7:50566900G>A	ENST00000444124.2	-	8	1022	c.822C>T	c.(820-822)taC>taT	p.Y274Y	DDC_ENST00000431062.1_Silent_p.Y181Y|DDC_ENST00000380984.4_Silent_p.Y274Y|DDC_ENST00000357936.5_Silent_p.Y274Y|DDC_ENST00000426377.1_Silent_p.Y196Y	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	274					catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)	p.Y274Y(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	CACTGCCTGCGTAGGCTGCAT	0.542																																					p.Y274Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C822T	7						.						117.0	87.0	97.0					7																	50566900		2203	4300	6503	50534394	SO:0001819	synonymous_variant	1644	exon8				CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.822C>T	7.37:g.50566900G>A			50534394	NM_000790	C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Silent	SNP	ENST00000444124.2	37	CCDS5511.1	.	.	.	.	.	.	.	.	.	.	G	2.891	-0.229563	0.06022	.	.	ENSG00000132437	ENST00000430300	.	.	.	5.74	-6.04	0.02178	.	.	.	.	.	T	0.65873	0.2733	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67715	-0.5599	4	.	.	.	-31.6824	17.6487	0.88157	0.8694:0.0:0.1306:0.0	.	.	.	.	M	155	.	.	T	-	2	0	DDC	50534394	0.928000	0.31464	0.086000	0.20670	0.365000	0.29674	0.075000	0.14686	-1.362000	0.02166	-0.137000	0.14449	ACG		0.542	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342593.1		
Unknown	0	broad.mit.edu	37	7	54269417	54269418	+	IGR	DEL	AC	AC	-	rs546907798		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	AC	AC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr7:54269417_54269418delAC								RP11-806J6.1 (253980 upstream) : RP11-436F9.1 (129053 downstream)																							acacaggcatacacacacacac	0.51																																					.												.	.	0			.	7						.																																			54236912	SO:0001628	intergenic_variant	3262	.																															7.37:g.54269427_54269428delAC			54236911	.		Frame_Shift_Del	DEL		37																																																																																				0	0.510								
EGFR	1956	broad.mit.edu	37	7	55220274	55220274	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr7:55220274C>T	ENST00000275493.2	+	6	841	c.664C>T	c.(664-666)Cgc>Tgc	p.R222C	EGFR_ENST00000342916.3_Missense_Mutation_p.R222C|EGFR_ENST00000420316.2_Missense_Mutation_p.R222C|EGFR_ENST00000442591.1_Missense_Mutation_p.R222C|EGFR_ENST00000454757.2_Missense_Mutation_p.R169C|EGFR_ENST00000455089.1_Missense_Mutation_p.R177C|EGFR_ENST00000344576.2_Missense_Mutation_p.R222C	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	222			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.R222C(4)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GTGCTCCGGGCGCTGCCGTGG	0.597		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																											p.R222C		yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""		"""E, O"""	EGFR,central_nervous_system,brain,Substitution - Missense,0 	.	4	Substitution - Missense(4)	large_intestine(2)|central_nervous_system(2)	c.C664T	7						.						91.0	104.0	100.0					7																	55220274		2203	4300	6503	55187768	SO:0001583	missense	1956	exon6	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.664C>T	7.37:g.55220274C>T	ENSP00000275493:p.Arg222Cys		55187768	NM_201282	O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.168333	0.78339	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05	5.3	5.3	0.74995	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.84215	0.5423	M	0.92604	3.325	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0	D	0.88214	0.2892	10	0.87932	D	0	.	17.5084	0.87753	0.0:1.0:0.0:0.0	.	177;222;222;222;222	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	C	177;222;92;222;222;222;222;169;16	ENSP00000415559:R177C;ENSP00000342376:R222C;ENSP00000345973:R222C;ENSP00000413843:R222C;ENSP00000275493:R222C;ENSP00000410031:R222C;ENSP00000395243:R169C	ENSP00000275493:R222C	R	+	1	0	EGFR	55187768	1.000000	0.71417	0.977000	0.42913	0.973000	0.67179	4.487000	0.60293	2.448000	0.82819	0.655000	0.94253	CGC		0.597	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
EGFR	1956	broad.mit.edu	37	7	55233037	55233037	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr7:55233037C>T	ENST00000275493.2	+	15	1964	c.1787C>T	c.(1786-1788)cCg>cTg	p.P596L	EGFR_ENST00000342916.3_Missense_Mutation_p.P596L|EGFR_ENST00000442591.1_Missense_Mutation_p.P596L|EGFR_ENST00000454757.2_Missense_Mutation_p.P543L|EGFR_ENST00000455089.1_Missense_Mutation_p.P551L|EGFR_ENST00000344576.2_Missense_Mutation_p.P596L	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	596					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.P596L(4)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AAGACCTGCCCGGCAGGAGTC	0.567		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																											p.P596L		yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""		"""E, O"""	EGFR,central_nervous_system,brain,Substitution - Missense,-2 	.	4	Substitution - Missense(4)	large_intestine(2)|central_nervous_system(2)	c.C1787T	7						.						93.0	81.0	85.0					7																	55233037		2203	4300	6503	55200531	SO:0001583	missense	1956	exon15	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1787C>T	7.37:g.55233037C>T	ENSP00000275493:p.Pro596Leu		55200531	NM_201282	O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	33	5.224989	0.95173	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37;-0.37	5.87	5.87	0.94306	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.84479	0.5481	M	0.85777	2.775	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.99;0.996;0.99;0.994	D	0.86044	0.1521	10	0.87932	D	0	.	18.7698	0.91887	0.0:1.0:0.0:0.0	.	551;596;596;596	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	L	551;596;466;596;596;596;543;390	ENSP00000415559:P551L;ENSP00000342376:P596L;ENSP00000345973:P596L;ENSP00000275493:P596L;ENSP00000410031:P596L;ENSP00000395243:P543L	ENSP00000275493:P596L	P	+	2	0	EGFR	55200531	1.000000	0.71417	0.967000	0.41034	0.752000	0.42762	7.738000	0.84966	2.785000	0.95823	0.655000	0.94253	CCG		0.567	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
ELN	2006	broad.mit.edu	37	7	73481088	73481088	+	Silent	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr7:73481088T>C	ENST00000252034.7	+	32	2512	c.2113T>C	c.(2113-2115)Ttg>Ctg	p.L705L	ELN_ENST00000380575.4_Silent_p.L658L|ELN_ENST00000380553.4_Silent_p.L551L|ELN_ENST00000380576.5_Silent_p.L686L|ELN_ENST00000320399.6_Silent_p.L738L|ELN_ENST00000380562.4_Silent_p.L711L|ELN_ENST00000414324.1_Silent_p.L681L|ELN_ENST00000380584.4_Silent_p.L639L|ELN_ENST00000357036.5_Silent_p.L692L|ELN_ENST00000445912.1_Silent_p.L687L|ELN_ENST00000429192.1_Silent_p.L673L|ELN_ENST00000458204.1_Silent_p.L695L|ELN_ENST00000358929.4_Silent_p.L773L|ELN_ENST00000320492.7_Silent_p.L624L	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	0	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)	p.L705L(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				TGGCTTCGGATTGTCTCCCAT	0.602			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""																														p.L686L			Dom	yes		7	7q11.23	2006	elastin	yes	L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2056C	7						.						127.0	100.0	109.0					7																	73481088		2203	4300	6503	73119024	SO:0001819	synonymous_variant	2006	exon31				CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.2113T>C	7.37:g.73481088T>C			73119024	NM_001081755	B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Silent	SNP	ENST00000252034.7	37	CCDS5562.2																																																																																				0.602	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501	
LIMK1	3984	broad.mit.edu	37	7	73534957	73534957	+	Missense_Mutation	SNP	G	G	A	rs375588485		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr7:73534957G>A	ENST00000336180.2	+	14	1663	c.1612G>A	c.(1612-1614)Gtc>Atc	p.V538I	LIMK1_ENST00000418310.1_Missense_Mutation_p.V568I|LIMK1_ENST00000538333.3_Missense_Mutation_p.V504I	NM_002314.3	NP_002305.1	P53667	LIMK1_HUMAN	LIM domain kinase 1	538	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|nervous system development (GO:0007399)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of axon extension (GO:0045773)|positive regulation of stress fiber assembly (GO:0051496)|protein phosphorylation (GO:0006468)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)	ATP binding (GO:0005524)|heat shock protein binding (GO:0031072)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.V538I(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)			Dabrafenib(DB08912)	CTTTGGGATCGTCCTGTGCGA	0.602																																					p.V538I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1612A	7						.	G	ILE/VAL,ILE/VAL	0,4406		0,0,2203	221.0	167.0	185.0		1510,1612	5.1	1.0	7		185	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	LIMK1	NM_001204426.1,NM_002314.3	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	504/614,538/648	73534957	1,13005	2203	4300	6503	73172893	SO:0001583	missense	3984	exon14			D26309	CCDS5563.1, CCDS56491.1	7q11.23	2005-01-21			ENSG00000106683	ENSG00000106683			6613	protein-coding gene	gene with protein product		601329				8673124, 8812460	Standard	NM_002314		Approved	LIMK	uc003uaa.2	P53667	OTTHUMG00000023448	ENST00000336180.2:c.1612G>A	7.37:g.73534957G>A	ENSP00000336740:p.Val538Ile		73172893	NM_002314	B7Z6I8|D3DXF4|D3DXF5|O15283|Q15820|Q15821|Q75MU3|Q9Y5Q1	Missense_Mutation	SNP	ENST00000336180.2	37	CCDS5563.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.527557	0.44969	0.0	1.16E-4	ENSG00000106683	ENST00000418310;ENST00000419043;ENST00000336180;ENST00000538333	T;T;T	0.62941	-0.01;-0.01;-0.01	5.14	5.14	0.70334	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.119705	0.56097	D	0.000038	T	0.48059	0.1479	N	0.10874	0.06	0.42933	D	0.994329	B;B	0.24768	0.056;0.111	B;B	0.32022	0.139;0.139	T	0.49244	-0.8960	10	0.44086	T	0.13	-49.3434	16.1422	0.81534	0.0:0.0:1.0:0.0	.	504;538	B7Z6I8;P53667	.;LIMK1_HUMAN	I	568;538;538;504	ENSP00000409717:V568I;ENSP00000336740:V538I;ENSP00000444452:V504I	ENSP00000336740:V538I	V	+	1	0	LIMK1	73172893	0.982000	0.34865	0.997000	0.53966	0.918000	0.54935	1.990000	0.40717	2.394000	0.81467	0.558000	0.71614	GTC		0.602	LIMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252335.2	NM_002314	
CLIP2	7461	broad.mit.edu	37	7	73790904	73790904	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr7:73790904C>T	ENST00000395060.1	+	9	2173	c.2173C>T	c.(2173-2175)Cgc>Tgc	p.R725C	CLIP2_ENST00000361545.5_Missense_Mutation_p.R690C|CLIP2_ENST00000223398.6_Missense_Mutation_p.R725C			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	725						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)		p.R690C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						CCAGGACCAGCGCCGGGATGC	0.687																																					p.R725C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2173T	7						.																																			73428840	SO:0001583	missense	7461	exon10			AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.2173C>T	7.37:g.73790904C>T	ENSP00000378500:p.Arg725Cys		73428840	NM_003388	O14527|O43611	Missense_Mutation	SNP	ENST00000395060.1	37	CCDS5569.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.641985	0.29157	.	.	ENSG00000106665	ENST00000539676;ENST00000223398;ENST00000361545;ENST00000395060	T;T;T	0.58506	0.39;0.33;0.39	4.9	-2.1	0.07210	.	0.770201	0.12745	N	0.442707	T	0.29491	0.0735	N	0.04880	-0.145	0.28213	N	0.92686	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.01281	0.0;0.0;0.0	T	0.15321	-1.0441	10	0.45353	T	0.12	-5.4275	6.2973	0.21093	0.0:0.1963:0.1557:0.648	.	690;690;725	A7E2F7;Q9UDT6-2;Q9UDT6	.;.;CLIP2_HUMAN	C	725;725;690;725	ENSP00000223398:R725C;ENSP00000355151:R690C;ENSP00000378500:R725C	ENSP00000223398:R725C	R	+	1	0	CLIP2	73428840	0.936000	0.31750	0.861000	0.33841	0.966000	0.64601	0.313000	0.19415	-0.029000	0.13827	0.449000	0.29647	CGC		0.687	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388	
STAG3L2	442582	broad.mit.edu	37	7	74300557	74300564	+	RNA	DEL	AGAGCTCC	AGAGCTCC	-	rs367732188		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	AGAGCTCC	AGAGCTCC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr7:74300557_74300564delAGAGCTCC	ENST00000423186.1	-	0	573_580							P0CL84	ST3L2_HUMAN	stromal antigen 3-like 2 (pseudogene)							nucleus (GO:0005634)		p.E82fs*32(2)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						CGGCCAGTGAAGAGCTCCAGGCGTGCGG	0.572																																					p.81_84del												.	.	2	Deletion - Frameshift(2)	large_intestine(1)|central_nervous_system(1)	c.243_250del	7						.			96,356		38,20,168							0.0			1	208,1036		88,32,502	no	frameshift	STAG3L2	NM_001025202.2		126,52,670	A1A1,A1R,RR		16.7203,21.2389,17.9245				304,1392				73938500			442582	exon5					7q11.23	2013-06-26	2013-06-26			ENSG00000277072			33886	pseudogene	pseudogene			"""stromal antigen 3-like 2"""				Standard	NR_040584		Approved	MGC131759, STAG3L2P	uc011kfj.2	P0CL84	OTTHUMG00000156216		7.37:g.74300557_74300564delAGAGCTCC			73938493	NM_001025202	A6NMT8|A8K0A1|Q32NE4|Q6NXR2|Q7L5M5|Q7Z5K6	Frame_Shift_Del	DEL	ENST00000423186.1	37																																																																																					0.572	STAG3L2-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000343523.2	NM_001025202	
PHTF2	57157	broad.mit.edu	37	7	77572032	77572032	+	Nonsense_Mutation	SNP	C	C	T	rs199985778		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr7:77572032C>T	ENST00000248550.7	+	15	1964	c.1888C>T	c.(1888-1890)Cga>Tga	p.R630*	PHTF2_ENST00000307305.8_Nonsense_Mutation_p.R592*|PHTF2_ENST00000275575.7_Nonsense_Mutation_p.R592*|PHTF2_ENST00000416283.2_Nonsense_Mutation_p.R596*|PHTF2_ENST00000422959.2_Nonsense_Mutation_p.R596*			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	630					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R596*(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						AGGTCCTCAGCGATCAGTTGA	0.378																																					p.R592X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1774T	7						.						108.0	104.0	105.0					7																	77572032		1891	4126	6017	77409968	SO:0001587	stop_gained	57157	exon13			AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.1888C>T	7.37:g.77572032C>T	ENSP00000248550:p.Arg630*		77409968	NM_020432	A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Nonsense_Mutation	SNP	ENST00000248550.7	37		.	.	.	.	.	.	.	.	.	.	C	40	7.924679	0.98563	.	.	ENSG00000006576	ENST00000427986;ENST00000422959;ENST00000307305;ENST00000275575;ENST00000416283;ENST00000248550	.	.	.	5.16	1.88	0.25563	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.4244	15.8405	0.78842	0.2836:0.7164:0.0:0.0	.	.	.	.	X	596;596;592;592;596;630	.	ENSP00000248550:R630X	R	+	1	2	PHTF2	77409968	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	4.004000	0.57068	0.522000	0.28464	0.655000	0.94253	CGA		0.378	PHTF2-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000340638.2	NM_020432	
GNAI1	2770	broad.mit.edu	37	7	79840353	79840353	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr7:79840353C>T	ENST00000351004.3	+	6	1032	c.659C>T	c.(658-660)gCg>gTg	p.A220V	GNAI1_ENST00000457358.2_Missense_Mutation_p.A168V	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	220					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|response to peptide hormone (GO:0043434)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.A220V(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						GGAGTGACGGCGATCATCTTC	0.428																																					p.A220V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C659T	7						.						166.0	136.0	146.0					7																	79840353		2203	4300	6503	79678289	SO:0001583	missense	2770	exon6			AL049933	CCDS5595.1, CCDS59061.1	7q21-q22	2008-07-18			ENSG00000127955	ENSG00000127955			4384	protein-coding gene	gene with protein product	"""Gi1 protein alpha subunit"""	139310				3110783	Standard	NM_002069		Approved		uc003uhb.1	P63096	OTTHUMG00000023523	ENST00000351004.3:c.659C>T	7.37:g.79840353C>T	ENSP00000343027:p.Ala220Val		79678289	NM_002069	A8KA88|B4E2V1|C9J3A4|P04898|P11015|P31871|Q5U074|Q8TAN5|Q9UGA4	Missense_Mutation	SNP	ENST00000351004.3	37	CCDS5595.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.722175	0.89298	.	.	ENSG00000127955	ENST00000351004;ENST00000457358	D;D	0.91180	-2.8;-2.8	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.91747	0.7390	M	0.87269	2.87	0.80722	D	1	P	0.42908	0.793	B	0.36845	0.234	D	0.92119	0.5702	9	.	.	.	.	19.8478	0.96722	0.0:1.0:0.0:0.0	.	220	P63096	GNAI1_HUMAN	V	220;168	ENSP00000343027:A220V;ENSP00000410572:A168V	.	A	+	2	0	GNAI1	79678289	1.000000	0.71417	0.999000	0.59377	0.921000	0.55340	7.776000	0.85560	2.685000	0.91497	0.650000	0.86243	GCG		0.428	GNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253254.1	NM_002069	
SEMA3D	223117	broad.mit.edu	37	7	84642105	84642105	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr7:84642105G>A	ENST00000284136.6	-	15	1804	c.1761C>T	c.(1759-1761)atC>atT	p.I587I	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	587					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.I587I(1)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TACTGTCTTCGATGTCCCAGC	0.383																																					p.I587I	Ovarian(63;442 1191 17318 29975 31528)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1761T	7						.						133.0	123.0	127.0					7																	84642105		2203	4300	6503	84480041	SO:0001819	synonymous_variant	223117	exon15			BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.1761C>T	7.37:g.84642105G>A			84480041	NM_152754	A6NK46|Q6UW77|Q8NCQ1	Silent	SNP	ENST00000284136.6	37	CCDS34676.1																																																																																				0.383	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754	
ABCB4	5244	broad.mit.edu	37	7	87056172	87056172	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr7:87056172A>T	ENST00000265723.4	-	16	2069	c.1958T>A	c.(1957-1959)aTg>aAg	p.M653K	ABCB4_ENST00000545634.1_Missense_Mutation_p.M653K|ABCB4_ENST00000453593.1_Missense_Mutation_p.M653K|ABCB4_ENST00000358400.3_Missense_Mutation_p.M653K|ABCB4_ENST00000359206.3_Missense_Mutation_p.M653K	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	653					cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)	p.M653K(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	ATTTGGGGCCATTCTAGTGGC	0.398																																					p.M653K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1958A	7						.						103.0	100.0	101.0					7																	87056172		2203	4300	6503	86894108	SO:0001583	missense	5244	exon16			M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.1958T>A	7.37:g.87056172A>T	ENSP00000265723:p.Met653Lys		86894108	NM_018849	A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	A	0.003	-2.525977	0.00147	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.86030	-2.0;-2.06;-2.04;-2.06;-2.0	4.58	2.18	0.27775	.	1.965400	0.02299	N	0.071026	T	0.76300	0.3968	L	0.41710	1.295	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.002;0.001	T	0.57165	-0.7858	10	0.06099	T	0.92	-3.6656	3.6414	0.08169	0.6554:0.0:0.1806:0.164	.	653;653;653	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	K	653	ENSP00000352135:M653K;ENSP00000351172:M653K;ENSP00000265723:M653K;ENSP00000392983:M653K;ENSP00000437465:M653K	ENSP00000265723:M653K	M	-	2	0	ABCB4	86894108	0.002000	0.14202	0.156000	0.22583	0.015000	0.08874	1.463000	0.35277	0.273000	0.22049	0.460000	0.39030	ATG		0.398	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443	
ZNF804B	219578	broad.mit.edu	37	7	88963113	88963113	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr7:88963113A>G	ENST00000333190.4	+	4	1426	c.817A>G	c.(817-819)Aca>Gca	p.T273A		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	273							metal ion binding (GO:0046872)	p.T273A(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AAATAAAGATACACACCTTAC	0.358										HNSCC(36;0.09)																											p.T273A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A817G	7						.						74.0	69.0	70.0					7																	88963113		2202	4300	6502	88801049	SO:0001583	missense	219578	exon4			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.817A>G	7.37:g.88963113A>G	ENSP00000329638:p.Thr273Ala		88801049	NM_181646	B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	A	0.006	-2.023091	0.00414	.	.	ENSG00000182348	ENST00000333190	T	0.04454	3.62	5.04	2.69	0.31865	.	1.119620	0.06624	N	0.758025	T	0.02649	0.0080	N	0.05124	-0.11	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.45977	-0.9224	10	0.08837	T	0.75	0.4056	7.5759	0.27935	0.6445:0.0:0.3555:0.0	.	273	A4D1E1	Z804B_HUMAN	A	273	ENSP00000329638:T273A	ENSP00000329638:T273A	T	+	1	0	ZNF804B	88801049	0.000000	0.05858	0.001000	0.08648	0.483000	0.33249	-0.075000	0.11431	0.416000	0.25844	0.533000	0.62120	ACA		0.358	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646	
SAMD9	54809	broad.mit.edu	37	7	92732356	92732356	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr7:92732356C>T	ENST00000379958.2	-	3	3324	c.3055G>A	c.(3055-3057)Gat>Aat	p.D1019N		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1019						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)		p.D1019N(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ATACCAGTATCGAAGAACAAA	0.368																																					p.D1019N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3055A	7						.						103.0	98.0	100.0					7																	92732356		2203	4300	6503	92570292	SO:0001583	missense	54809	exon2			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.3055G>A	7.37:g.92732356C>T	ENSP00000369292:p.Asp1019Asn		92570292	NM_001193307	A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	C	6.811	0.518731	0.13005	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.24151	1.87;2.68	4.79	3.86	0.44501	.	0.322386	0.27275	N	0.020102	T	0.18467	0.0443	L	0.40543	1.245	0.23735	N	0.996989	P	0.45078	0.85	B	0.33568	0.166	T	0.25676	-1.0125	10	0.54805	T	0.06	-4.1768	13.186	0.59682	0.1597:0.8403:0.0:0.0	.	1019	Q5K651	SAMD9_HUMAN	N	1019	ENSP00000369292:D1019N;ENSP00000414529:D1019N	ENSP00000369292:D1019N	D	-	1	0	SAMD9	92570292	0.001000	0.12720	0.988000	0.46212	0.044000	0.14063	0.023000	0.13533	2.491000	0.84063	0.609000	0.83330	GAT		0.368	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654	
SAMD9L	219285	broad.mit.edu	37	7	92760745	92760745	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr7:92760745T>C	ENST00000318238.4	-	5	5756	c.4540A>G	c.(4540-4542)Aaa>Gaa	p.K1514E	SAMD9L_ENST00000411955.1_Missense_Mutation_p.K1514E|SAMD9L_ENST00000437805.1_Missense_Mutation_p.K1514E	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1514					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)		p.K1514E(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TCATTTTTTTTCCACACATCC	0.403																																					p.K1514E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4540G	7						.						129.0	127.0	128.0					7																	92760745		2203	4300	6503	92598681	SO:0001583	missense	219285	exon5			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.4540A>G	7.37:g.92760745T>C	ENSP00000326247:p.Lys1514Glu		92598681	NM_152703	A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	T	10.79	1.449131	0.26074	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805;ENST00000394472	T;T;T	0.27720	1.65;1.65;1.65	4.55	0.329	0.15924	.	0.290123	0.31721	N	0.007167	T	0.11707	0.0285	N	0.05441	-0.05	0.31332	N	0.684684	P	0.37573	0.6	B	0.35510	0.204	T	0.31916	-0.9926	10	0.13853	T	0.58	-7.8236	8.2306	0.31595	0.0:0.3022:0.0:0.6978	.	1514	Q8IVG5	SAM9L_HUMAN	E	1514;1514;1514;336	ENSP00000326247:K1514E;ENSP00000405760:K1514E;ENSP00000408796:K1514E	ENSP00000326247:K1514E	K	-	1	0	SAMD9L	92598681	1.000000	0.71417	0.997000	0.53966	0.686000	0.39977	2.603000	0.46266	0.185000	0.20105	0.383000	0.25322	AAA		0.403	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703	
SLC25A13	10165	broad.mit.edu	37	7	95750524	95750524	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr7:95750524C>A	ENST00000265631.5	-	18	2143	c.2007G>T	c.(2005-2007)aaG>aaT	p.K669N	SLC25A13_ENST00000416240.2_Missense_Mutation_p.K670N|SLC25A13_ENST00000542654.1_Missense_Mutation_p.K561N|SLC25A13_ENST00000494085.1_5'UTR			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	669					aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	CACCAATAGCCTTTGAGGTAG	0.468																																					p.K669N												.	.	0			c.G2007T	7						.						104.0	105.0	104.0					7																	95750524		2203	4300	6503	95588460	SO:0001583	missense	10165	exon18			AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"""Solute carriers"", ""EF-hand domain containing"""	10983	protein-coding gene	gene with protein product	"""mitochondrial aspartate glutamate carrier 2"""	603859	"""solute carrier family 25, member 13 (citrin)"""	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.2007G>T	7.37:g.95750524C>A	ENSP00000265631:p.Lys669Asn		95588460	NM_014251	O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Missense_Mutation	SNP	ENST00000265631.5	37	CCDS5645.1	.	.	.	.	.	.	.	.	.	.	C	8.906	0.957560	0.18507	.	.	ENSG00000004864	ENST00000265631;ENST00000416240;ENST00000542654	T;T;T	0.80033	-1.33;-1.33;-1.32	4.5	-1.2	0.09554	.	1.228570	0.05434	N	0.546416	T	0.61726	0.2370	N	0.08118	0	0.09310	N	1	B;B;B	0.19817	0.039;0.023;0.023	B;B;B	0.18871	0.023;0.01;0.01	T	0.47302	-0.9128	10	0.29301	T	0.29	3.9884	7.5422	0.27746	0.1592:0.623:0.0:0.2179	.	561;670;669	F5GX33;Q546F9;Q9UJS0	.;.;CMC2_HUMAN	N	669;670;561	ENSP00000265631:K669N;ENSP00000400101:K670N;ENSP00000440484:K561N	ENSP00000265631:K669N	K	-	3	2	SLC25A13	95588460	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.276000	0.08514	-0.182000	0.10602	-0.345000	0.07892	AAG		0.468	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059395.2	NM_014251	
LMTK2	22853	broad.mit.edu	37	7	97823460	97823460	+	Missense_Mutation	SNP	C	C	T	rs148946045	byFrequency	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr7:97823460C>T	ENST00000297293.5	+	11	3976	c.3683C>T	c.(3682-3684)aCg>aTg	p.T1228M		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1228					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)	p.T1228M(2)		NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CTCGCTTCCACGGGGACCAAC	0.602													C|||	3	0.000599042	0.0023	0.0	5008	,	,		18265	0.0		0.0	False		,,,				2504	0.0				p.T1228M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3683T	7						.	C	MET/THR	5,4401	9.9+/-24.2	0,5,2198	66.0	65.0	65.0		3683	5.8	1.0	7	dbSNP_134	65	0,8600		0,0,4300	yes	missense	LMTK2	NM_014916.3	81	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	probably-damaging	1228/1504	97823460	5,13001	2203	4300	6503	97661396	SO:0001583	missense	22853	exon11			AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.3683C>T	7.37:g.97823460C>T	ENSP00000297293:p.Thr1228Met		97661396	NM_014916	A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	CCDS5654.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	14.87	2.664394	0.47572	0.001135	0.0	ENSG00000164715	ENST00000297293	T	0.78707	-1.2	5.84	5.84	0.93424	.	0.225862	0.40302	N	0.001131	D	0.82706	0.5095	M	0.67953	2.075	0.09310	N	0.999999	D	0.89917	1.0	P	0.59487	0.858	T	0.76804	-0.2824	10	0.54805	T	0.06	.	8.5694	0.33561	0.0:0.8384:0.0:0.1616	.	1228	Q8IWU2	LMTK2_HUMAN	M	1228	ENSP00000297293:T1228M	ENSP00000297293:T1228M	T	+	2	0	LMTK2	97661396	0.439000	0.25610	0.968000	0.41197	0.327000	0.28475	1.867000	0.39499	2.779000	0.95612	0.655000	0.94253	ACG		0.602	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916	
TRRAP	8295	broad.mit.edu	37	7	98565140	98565140	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr7:98565140C>T	ENST00000359863.4	+	50	7519	c.7310C>T	c.(7309-7311)gCg>gTg	p.A2437V	TRRAP_ENST00000446306.3_Missense_Mutation_p.A2419V|TRRAP_ENST00000355540.3_Missense_Mutation_p.A2419V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2437					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.A2437V(1)|p.A2419V(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GAGCTGACGGCGAAACTTGAG	0.527																																					p.A2419V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C7256T	7						.						79.0	71.0	74.0					7																	98565140		2203	4300	6503	98403076	SO:0001583	missense	8295	exon49			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.7310C>T	7.37:g.98565140C>T	ENSP00000352925:p.Ala2437Val		98403076	NM_003496	A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.37|15.37	2.813007|2.813007	0.50527|0.50527	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.02395|.	4.33;4.31|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.052962|.	0.85682|.	D|.	0.000000|.	T|.	0.29914|.	0.0748|.	N|N	0.00808|0.00808	-1.17|-1.17	0.80722|0.80722	D|D	1|1	B;B;B|.	0.28512|.	0.177;0.065;0.214|.	B;B;B|.	0.21917|.	0.014;0.026;0.037|.	T|.	0.40001|.	-0.9586|.	10|.	0.02654|.	T|.	1|.	.|.	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2419;2158;2437|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	V|X	2437;2419;2418|2159	ENSP00000352925:A2437V;ENSP00000347733:A2419V|.	ENSP00000347733:A2419V|.	A|R	+|+	2|1	0|2	TRRAP|TRRAP	98403076|98403076	1.000000|1.000000	0.71417|0.71417	0.918000|0.918000	0.36340|0.36340	0.748000|0.748000	0.42578|0.42578	7.818000|7.818000	0.86416|0.86416	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCG|CGA		0.527	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496	
TRRAP	8295	broad.mit.edu	37	7	98576487	98576487	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr7:98576487G>A	ENST00000359863.4	+	57	8782	c.8573G>A	c.(8572-8574)cGg>cAg	p.R2858Q	TRRAP_ENST00000446306.3_Missense_Mutation_p.R2840Q|TRRAP_ENST00000355540.3_Missense_Mutation_p.R2840Q	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2858	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.R2858Q(1)|p.R2840Q(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGCGCCTGGCGGGTGTCCAAC	0.622																																					p.R2840Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G8519A	7						.						63.0	66.0	65.0					7																	98576487		2203	4300	6503	98414423	SO:0001583	missense	8295	exon56			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.8573G>A	7.37:g.98576487G>A	ENSP00000352925:p.Arg2858Gln		98414423	NM_003496	A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.238887|6.238887	0.97403|0.97403	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000456197|ENST00000359863;ENST00000355540;ENST00000446306	.|T;T	.|0.72167	.|-0.63;-0.63	6.03|6.03	6.03|6.03	0.97812|0.97812	.|PIK-related kinase (1);PIK-related kinase, FAT (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.87103|0.87103	0.6094|0.6094	M|M	0.91090|0.91090	3.175|3.175	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.999;0.998;0.998	.|P;P;P	.|0.60609	.|0.876;0.835;0.877	D|D	0.88684|0.88684	0.3204|0.3204	5|10	.|0.72032	.|D	.|0.01	.|.	20.5568|20.5568	0.99304|0.99304	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|2840;2579;2858	.|Q9Y4A5-2;Q59FH1;Q9Y4A5	.|.;.;TRRAP_HUMAN	R|Q	2580|2858;2840;2839	.|ENSP00000352925:R2858Q;ENSP00000347733:R2840Q	.|ENSP00000347733:R2840Q	G|R	+|+	1|2	0|0	TRRAP|TRRAP	98414423|98414423	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	9.869000|9.869000	0.99810|0.99810	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	GGG|CGG		0.622	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496	
ZKSCAN5	23660	broad.mit.edu	37	7	99123981	99123981	+	Missense_Mutation	SNP	G	G	T	rs375672801		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr7:99123981G>T	ENST00000394170.2	+	6	1569	c.1318G>T	c.(1318-1320)Ggt>Tgt	p.G440C	ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.G440C|ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.G440C	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	440					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.G440C(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GAAGAACTTCGGTCGCCATTC	0.542																																					p.G440C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1318T	7						.						176.0	177.0	177.0					7																	99123981		2203	4300	6503	98961917	SO:0001583	missense	23660	exon6			AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12867	protein-coding gene	gene with protein product		611272	"""zinc finger protein homologous to Zfp95 in mouse"", ""zinc finger protein 95 homolog (mouse)"""	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.1318G>T	7.37:g.99123981G>T	ENSP00000377725:p.Gly440Cys		98961917	NM_145102	A4D280|D6W5S9	Missense_Mutation	SNP	ENST00000394170.2	37	CCDS5667.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.535365	0.45176	.	.	ENSG00000196652	ENST00000537357;ENST00000326775;ENST00000451158;ENST00000394170	T;T;T	0.35789	1.29;1.29;1.29	4.73	3.85	0.44370	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.110599	0.41097	D	0.000953	T	0.40909	0.1136	L	0.39147	1.195	0.09310	N	1	D;D	0.55172	0.97;0.97	P;P	0.58577	0.841;0.841	T	0.17137	-1.0379	10	0.72032	D	0.01	.	6.164	0.20380	0.0946:0.0:0.7212:0.1842	.	440;440	Q8N718;Q9Y2L8	.;ZKSC5_HUMAN	C	440	ENSP00000322872:G440C;ENSP00000392104:G440C;ENSP00000377725:G440C	ENSP00000322872:G440C	G	+	1	0	ZKSCAN5	98961917	0.000000	0.05858	0.583000	0.28640	0.848000	0.48234	0.285000	0.18883	1.378000	0.46305	0.655000	0.94253	GGT		0.542	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345597.1	NM_014569	
FAM200A	221786	broad.mit.edu	37	7	99145142	99145142	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr7:99145142A>G	ENST00000449309.1	-	2	1268	c.889T>C	c.(889-891)Ttt>Ctt	p.F297L		NM_145111.3	NP_659802.1	Q8TCP9	F200A_HUMAN	family with sequence similarity 200, member A	297						integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)	p.F297L(1)		endometrium(1)|kidney(5)|large_intestine(2)|ovary(2)|skin(1)	11						tctgtatgaaacaataagtgg	0.363																																					p.F297L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T889C	7						.						22.0	22.0	22.0					7																	99145142		1536	2699	4235	98983078	SO:0001583	missense	221786	exon2				CCDS5668.1	7q22.1	2010-02-22	2010-02-22	2010-02-22	ENSG00000221909	ENSG00000221909			25401	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 38"""	C7orf38		10607616	Standard	NM_145111		Approved	FLJ36794, DKFZp727G131	uc003ura.3	Q8TCP9	OTTHUMG00000156723	ENST00000449309.1:c.889T>C	7.37:g.99145142A>G	ENSP00000411372:p.Phe297Leu		98983078	NM_145111	A4D293|A8K3V9|B2RD92|C9J6A8|D6W5T2|Q8N9P3	Missense_Mutation	SNP	ENST00000449309.1	37	CCDS5668.1	.	.	.	.	.	.	.	.	.	.	A	0.013	-1.623428	0.00820	.	.	ENSG00000221909	ENST00000449309;ENST00000408938	D;D	0.82893	-1.66;-1.66	1.88	1.88	0.25563	Ribonuclease H-like (1);	1.536960	0.04727	N	0.420427	T	0.66567	0.2802	N	0.12502	0.225	0.21604	N	0.999625	B	0.06786	0.001	B	0.14578	0.011	T	0.55108	-0.8192	10	0.09843	T	0.71	.	5.7783	0.18292	1.0:0.0:0.0:0.0	.	297	Q8TCP9	F200A_HUMAN	L	297	ENSP00000411372:F297L;ENSP00000386191:F297L	ENSP00000386191:F297L	F	-	1	0	FAM200A	98983078	0.985000	0.35326	0.558000	0.28319	0.518000	0.34316	2.045000	0.41250	1.114000	0.41781	0.383000	0.25322	TTT		0.363	FAM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345467.1	NM_145111	
AP4M1	9179	broad.mit.edu	37	7	99703122	99703122	+	Missense_Mutation	SNP	C	C	T	rs199982051		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr7:99703122C>T	ENST00000359593.4	+	11	1047	c.889C>T	c.(889-891)Cgg>Tgg	p.R297W	AP4M1_ENST00000421755.1_Missense_Mutation_p.R297W|AP4M1_ENST00000429084.1_Missense_Mutation_p.R304W|AP4M1_ENST00000422582.1_Missense_Mutation_p.R169W	NM_004722.3	NP_004713.2	O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	297	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|Golgi trans cisterna (GO:0000138)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)	p.R297W(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCTCCCCTTCCGGCTCTTCCC	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		18237	0.001		0.0	False		,,,				2504	0.0				p.R297W	Pancreas(174;1182 2812 29595 49511)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C889T	7						.						101.0	81.0	88.0					7																	99703122		2203	4300	6503	99541058	SO:0001583	missense	9179	exon11			Y08387	CCDS5685.1	7q22.1	2012-06-29			ENSG00000221838	ENSG00000221838			574	protein-coding gene	gene with protein product	"""mu-adaptin-related protein-2"", ""mu subunit of AP-4"", ""AP-4 adapter complex mu subunit"", ""adaptor-related protein complex AP-4 mu4 subunit"""	602296				9013859, 10066790, 21620353	Standard	NM_004722		Approved	MU-ARP2, MU-4, SPG50	uc003utb.4	O00189	OTTHUMG00000154722	ENST00000359593.4:c.889C>T	7.37:g.99703122C>T	ENSP00000352603:p.Arg297Trp		99541058	NM_004722	D6W5U1|Q8WV65|Q9UHK9	Missense_Mutation	SNP	ENST00000359593.4	37	CCDS5685.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.370269	0.82573	.	.	ENSG00000221838	ENST00000438383;ENST00000429084;ENST00000359593;ENST00000439416;ENST00000421755;ENST00000422582;ENST00000450807	T;T;T;T;T;T;T	0.20332	2.08;2.08;2.08;2.08;2.08;2.08;2.08	5.27	3.47	0.39725	Clathrin adaptor, mu subunit, C-terminal (3);	0.202266	0.44902	N	0.000409	T	0.42131	0.1189	M	0.80847	2.515	0.45676	D	0.998593	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.66716	0.923;0.946;0.921	T	0.22730	-1.0208	10	0.45353	T	0.12	-8.8704	8.2049	0.31449	0.157:0.7609:0.0:0.0821	.	253;304;297	C9JMG3;C9JC87;O00189	.;.;AP4M1_HUMAN	W	229;304;297;253;297;169;49	ENSP00000401613:R229W;ENSP00000403663:R304W;ENSP00000352603:R297W;ENSP00000414286:R253W;ENSP00000412185:R297W;ENSP00000406676:R169W;ENSP00000391585:R49W	ENSP00000352603:R297W	R	+	1	2	AP4M1	99541058	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	3.554000	0.53720	0.788000	0.33755	0.655000	0.94253	CGG		0.567	AP4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336772.4	NM_004722	
C7orf43	55262	broad.mit.edu	37	7	99754737	99754737	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr7:99754737C>T	ENST00000316937.3	-	5	1010	c.825G>A	c.(823-825)gtG>gtA	p.V275V	MIR4658_ENST00000584344.1_RNA|C7orf43_ENST00000419841.1_Silent_p.V43V|C7orf43_ENST00000457641.1_Silent_p.V6V|C7orf43_ENST00000394035.2_5'Flank|C7orf43_ENST00000498638.1_5'UTR	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN	chromosome 7 open reading frame 43	275								p.V275V(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCACCAGCAGCACAGAGCCAT	0.582																																					p.V275V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G825A	7						.						136.0	124.0	128.0					7																	99754737		2203	4300	6503	99592673	SO:0001819	synonymous_variant	55262	exon5				CCDS5687.1	7q22.1	2011-11-25			ENSG00000146826	ENSG00000146826			25604	protein-coding gene	gene with protein product						12477932	Standard	NM_018275		Approved	FLJ10925	uc003utr.3	Q8WVR3	OTTHUMG00000154862	ENST00000316937.3:c.825G>A	7.37:g.99754737C>T			99592673	NM_018275	A4D2A9|D6W5U4|Q9BQJ1|Q9BUB6|Q9NV47	Silent	SNP	ENST00000316937.3	37	CCDS5687.1	.	.	.	.	.	.	.	.	.	.	C	9.720	1.159424	0.21454	.	.	ENSG00000146826	ENST00000456769	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	T	0.71143	0.3305	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69401	-0.5155	4	.	.	.	-14.2027	14.8464	0.70264	0.0:1.0:0.0:0.0	.	.	.	.	T	181	.	.	A	-	1	0	C7orf43	99592673	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.034000	0.30204	2.584000	0.87258	0.462000	0.41574	GCT		0.582	C7orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337395.2	NM_018275	
PLOD3	8985	broad.mit.edu	37	7	100855927	100855927	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr7:100855927delG	ENST00000223127.3	-	9	1287	c.889delC	c.(889-891)cggfs	p.R297fs		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	297					basement membrane assembly (GO:0070831)|cellular protein modification process (GO:0006464)|cellular response to hormone stimulus (GO:0032870)|collagen fibril organization (GO:0030199)|endothelial cell morphogenesis (GO:0001886)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|lung morphogenesis (GO:0060425)|neural tube development (GO:0021915)|protein localization (GO:0008104)|vasodilation (GO:0042311)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen galactosyltransferase activity (GO:0050211)|procollagen glucosyltransferase activity (GO:0033823)|procollagen-lysine 5-dioxygenase activity (GO:0008475)	p.R297fs*61(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	AGAAACACCCGGGGGGGAGGC	0.642																																					p.R297fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.889delC	7						.						28.0	35.0	33.0					7																	100855927		2202	4297	6499	100642647	SO:0001589	frameshift_variant	8985	exon9			AF046889	CCDS5715.1	7q22.1	2011-08-24			ENSG00000106397	ENSG00000106397	1.14.11.4		9083	protein-coding gene	gene with protein product	"""lysyl hydroxlase 3"""	603066				9724729, 9582318	Standard	NM_001084		Approved	LH3	uc003uyd.3	O60568	OTTHUMG00000157111	ENST00000223127.3:c.889delC	7.37:g.100855927delG	ENSP00000223127:p.Arg297fs		100642647	NM_001084	B2R6W6|Q540C3	Frame_Shift_Del	DEL	ENST00000223127.3	37	CCDS5715.1																																																																																				0.642	PLOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347470.1		
NCAPG2	54892	broad.mit.edu	37	7	158457327	158457327	+	Missense_Mutation	SNP	G	G	A	rs374235532		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr7:158457327G>A	ENST00000409423.1	-	15	1767	c.1595C>T	c.(1594-1596)cCg>cTg	p.P532L	NCAPG2_ENST00000541468.1_Missense_Mutation_p.P33L|NCAPG2_ENST00000449727.2_Missense_Mutation_p.P532L|NCAPG2_ENST00000275830.10_Missense_Mutation_p.P324L|NCAPG2_ENST00000409339.3_Missense_Mutation_p.P532L|NCAPG2_ENST00000356309.3_Missense_Mutation_p.P532L	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	532					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)	p.P532L(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		GACCTCCTCCGGCTGATTCAC	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		14746	0.001		0.0	False		,,,				2504	0.0				p.P532L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1595T	7						.		LEU/PRO	0,4272		0,0,2136	86.0	92.0	90.0		1595	5.7	1.0	7		90	1,8509		0,1,4254	no	missense	NCAPG2	NM_017760.5	98	0,1,6390	AA,AG,GG		0.0118,0.0,0.0078	probably-damaging	532/1144	158457327	1,12781	2136	4255	6391	158150088	SO:0001583	missense	54892	exon14			BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"""leucine zipper protein 5"""	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.1595C>T	7.37:g.158457327G>A	ENSP00000386569:p.Pro532Leu		158150088	NM_017760	A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Missense_Mutation	SNP	ENST00000409423.1	37	CCDS43686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.3|27.3	4.818268|4.818268	0.90790|0.90790	0.0|0.0	1.18E-4|1.18E-4	ENSG00000146918|ENSG00000146918	ENST00000541468;ENST00000356309;ENST00000409423;ENST00000275830;ENST00000409339;ENST00000545393;ENST00000449727|ENST00000441982	T;T;T;T;T;T|.	0.32515|.	1.45;1.68;1.68;1.64;1.68;1.68|.	5.71|5.71	5.71|5.71	0.89125|0.89125	Armadillo-type fold (1);|.	0.101523|.	0.64402|.	D|.	0.000001|.	T|T	0.69106|0.69106	0.3074|0.3074	L|L	0.54323|0.54323	1.7|1.7	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D;D|.	0.89917|.	0.999;1.0;0.999;0.999|.	D;P;P;P|.	0.65684|.	0.937;0.9;0.829;0.866|.	T|T	0.65307|0.65307	-0.6200|-0.6200	10|5	0.36615|.	T|.	0.2|.	-22.739|-22.739	14.9933|14.9933	0.71406|0.71406	0.0:0.0:0.8575:0.1425|0.0:0.0:0.8575:0.1425	.|.	532;33;324;532|.	Q86XI2-2;B4DHE5;E7EUH9;Q86XI2|.	.;.;.;CNDG2_HUMAN|.	L|W	33;532;532;324;532;33;532|334	ENSP00000442337:P33L;ENSP00000348657:P532L;ENSP00000386569:P532L;ENSP00000275830:P324L;ENSP00000387007:P532L;ENSP00000388326:P532L|.	ENSP00000275830:P324L|.	P|R	-|-	2|1	0|2	NCAPG2|NCAPG2	158150088|158150088	1.000000|1.000000	0.71417|0.71417	0.967000|0.967000	0.41034|0.41034	0.996000|0.996000	0.88848|0.88848	7.621000|7.621000	0.83083|0.83083	2.850000|2.850000	0.98022|0.98022	0.655000|0.655000	0.94253|0.94253	CCG|CGG		0.582	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1	NM_017760	
STAR	6770	broad.mit.edu	37	8	38006211	38006212	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	-	-	-	C	-	-	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr8:38006211_38006212insC	ENST00000276449.4	-	2	571_572	c.125_126insG	c.(124-126)ggcfs	p.G42fs	RP11-90P5.2_ENST00000520598.1_RNA	NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein	42					bile acid biosynthetic process (GO:0006699)|biphenyl metabolic process (GO:0018879)|brain development (GO:0007420)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth hormone stimulus (GO:0071378)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-alpha (GO:0035457)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to luteinizing hormone stimulus (GO:0071373)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cholesterol metabolic process (GO:0008203)|circadian sleep/wake cycle, REM sleep (GO:0042747)|dibenzo-p-dioxin metabolic process (GO:0018894)|diterpenoid metabolic process (GO:0016101)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|glucocorticoid metabolic process (GO:0008211)|insecticide metabolic process (GO:0017143)|intracellular cholesterol transport (GO:0032367)|male gonad development (GO:0008584)|negative regulation of neuron apoptotic process (GO:0043524)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of gene expression (GO:0010628)|positive regulation of neurogenesis (GO:0050769)|progesterone biosynthetic process (GO:0006701)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of steroid biosynthetic process (GO:0050810)|response to activity (GO:0014823)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to hydrogen peroxide (GO:0042542)|response to ionizing radiation (GO:0010212)|response to lead ion (GO:0010288)|response to leptin (GO:0044321)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytosol (GO:0005829)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	cholesterol binding (GO:0015485)	p.T44fs*3(1)		breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		TAGGGGTGGGGCCCCCCAGGGC	0.629																																					p.G42fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.126_127insG	8	GRCh37	CI972707	STAR	I		.																																			38125369	SO:0001589	frameshift_variant	6770	exon2			BC010550	CCDS6102.1	8p11.2	2011-09-13	2007-05-15		ENSG00000147465	ENSG00000147465		"""StAR-related lipid transfer (START) domain containing"""	11359	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 1"""	600617	"""steroidogenic acute regulator"""			7761400	Standard	NM_000349		Approved	StAR, STARD1	uc003xkv.1	P49675	OTTHUMG00000164058	ENST00000276449.4:c.126dupG	8.37:g.38006217_38006217dupC	ENSP00000276449:p.Gly42fs		38125368	NM_000349	Q16396	Frame_Shift_Ins	INS	ENST00000276449.4	37	CCDS6102.1																																																																																				0.629	STAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376990.2	NM_000349	
OSR2	116039	broad.mit.edu	37	8	99961222	99961222	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr8:99961222G>A	ENST00000297565.4	+	2	538	c.42G>A	c.(40-42)ccG>ccA	p.P14P	OSR2_ENST00000523368.1_Silent_p.P14P|OSR2_ENST00000435298.2_Silent_p.P14P|OSR2_ENST00000457907.2_Silent_p.P135P|OSR2_ENST00000522510.1_Silent_p.P14P	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	14					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|chondrocyte differentiation (GO:0002062)|embryo development (GO:0009790)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal limb joint morphogenesis (GO:0036023)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|head development (GO:0060322)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis (GO:0042476)|osteoblast proliferation (GO:0033687)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gastrulation (GO:2000543)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.P14P(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			CGCTCCACCCGTCGCTGCAGC	0.642																																					p.P14P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G42A	8						.						48.0	53.0	52.0					8																	99961222		2041	4186	6227	100030398	SO:0001819	synonymous_variant	116039	exon2			AY038072	CCDS47901.1, CCDS47902.1, CCDS69520.1	8q22.2	2013-10-17	2013-10-17			ENSG00000164920		"""Zinc fingers, C2H2-type"""	15830	protein-coding gene	gene with protein product		611297	"""odd-skipped related 2 (Drosophila)"""				Standard	XM_005250779		Approved	FLJ90037	uc003yir.3	Q8N2R0		ENST00000297565.4:c.42G>A	8.37:g.99961222G>A			100030398	NM_053001	A8K626|B4E3B7|Q96AM6|Q96LB6|Q96LB7	Silent	SNP	ENST00000297565.4	37	CCDS47901.1																																																																																				0.642	OSR2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000379505.1	NM_053001	
PKHD1L1	93035	broad.mit.edu	37	8	110408275	110408275	+	Silent	SNP	T	T	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr8:110408275T>G	ENST00000378402.5	+	11	935	c.831T>G	c.(829-831)ccT>ccG	p.P277P		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	277	IPT/TIG 3.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.P279P(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGATTTTCCCTTCACAAGGAA	0.383										HNSCC(38;0.096)																											p.P277P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T831G	8						.						66.0	57.0	60.0					8																	110408275		1986	4179	6165	110477451	SO:0001819	synonymous_variant	93035	exon11			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.831T>G	8.37:g.110408275T>G			110477451	NM_177531	Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	CCDS47911.1																																																																																				0.383	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	
PKHD1L1	93035	broad.mit.edu	37	8	110442255	110442255	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr8:110442255G>A	ENST00000378402.5	+	27	3322	c.3218G>A	c.(3217-3219)aGc>aAc	p.S1073N		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1073	IPT/TIG 4.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.S1075N(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTGGCGATAAGCCCTTCTCAA	0.368										HNSCC(38;0.096)																											p.S1073N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3218A	8						.						111.0	99.0	102.0					8																	110442255		1869	4114	5983	110511431	SO:0001583	missense	93035	exon27			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.3218G>A	8.37:g.110442255G>A	ENSP00000367655:p.Ser1073Asn		110511431	NM_177531	Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	9.390	1.075223	0.20227	.	.	ENSG00000205038	ENST00000378402	T	0.79554	-1.28	5.44	1.3	0.21679	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.506733	0.21179	N	0.078853	T	0.61937	0.2387	N	0.20685	0.6	0.21020	N	0.999807	B	0.15473	0.013	B	0.20955	0.032	T	0.45469	-0.9259	10	0.27785	T	0.31	.	4.7557	0.13082	0.3116:0.1693:0.5191:0.0	.	1073	Q86WI1	PKHL1_HUMAN	N	1073	ENSP00000367655:S1073N	ENSP00000367655:S1073N	S	+	2	0	PKHD1L1	110511431	0.936000	0.31750	0.768000	0.31515	0.385000	0.30292	0.314000	0.19432	0.274000	0.22072	0.650000	0.86243	AGC		0.368	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	
ENPP2	5168	broad.mit.edu	37	8	120581537	120581537	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr8:120581537C>T	ENST00000075322.6	-	21	2049	c.1991G>A	c.(1990-1992)aGt>aAt	p.S664N	ENPP2_ENST00000427067.2_Missense_Mutation_p.S685N|ENPP2_ENST00000259486.6_Missense_Mutation_p.S716N|ENPP2_ENST00000522167.1_Missense_Mutation_p.S299N|ENPP2_ENST00000522826.1_Missense_Mutation_p.S689N	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	664					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.S716N(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ACAGTTCTGACTGAAACTCGG	0.498																																					p.S689N	Melanoma(20;305 879 2501 4818 31020)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2066A	8						.						159.0	148.0	152.0					8																	120581537		2203	4300	6503	120650718	SO:0001583	missense	5168	exon22			D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.1991G>A	8.37:g.120581537C>T	ENSP00000075322:p.Ser664Asn		120650718	NM_001130863	A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.889102	0.91814	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49	5.37	5.37	0.77165	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	0.000000	0.85682	D	0.000000	T	0.57504	0.2058	M	0.71581	2.175	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;0.999	D;D;D;D;D	0.97110	1.0;0.999;0.998;0.999;0.998	T	0.58736	-0.7584	10	0.56958	D	0.05	.	19.1242	0.93375	0.0:1.0:0.0:0.0	.	202;689;664;716;299	B4DJD3;E9PHP7;Q13822;Q13822-2;E5RIA2	.;.;ENPP2_HUMAN;.;.	N	716;685;299;689;664	ENSP00000259486:S716N;ENSP00000403315:S685N;ENSP00000429476:S299N;ENSP00000428291:S689N;ENSP00000075322:S664N	ENSP00000075322:S664N	S	-	2	0	ENPP2	120650718	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.128000	0.77217	2.519000	0.84933	0.655000	0.94253	AGT		0.498	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1		
DLC1	10395	broad.mit.edu	37	8	13259103	13259103	+	Missense_Mutation	SNP	G	G	A	rs148727515		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr8:13259103G>A	ENST00000276297.4	-	3	1458	c.1049C>T	c.(1048-1050)gCg>gTg	p.A350V	DLC1_ENST00000511869.1_Missense_Mutation_p.A350V|DLC1_ENST00000316609.5_Missense_Mutation_p.A350V	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	350					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.A350V(4)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GTCCAGCCGCGCCCTATCTCG	0.448																																					p.A350V												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C1049T	8						.	G	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	142.0	125.0	131.0		1049,1049	1.5	0.1	8	dbSNP_134	131	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	DLC1	NM_024767.3,NM_182643.2	64,64	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	benign,benign	350/464,350/1529	13259103	3,13003	2203	4300	6503	13303474	SO:0001583	missense	10395	exon3			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.1049C>T	8.37:g.13259103G>A	ENSP00000276297:p.Ala350Val		13303474	NM_182643	B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	G	10.72	1.428410	0.25726	2.27E-4	2.33E-4	ENSG00000164741	ENST00000276297;ENST00000316609;ENST00000511869	T;T;T	0.12255	3.63;2.7;2.71	5.49	1.5	0.22942	.	0.547689	0.15331	N	0.268021	T	0.09379	0.0231	L	0.29908	0.895	0.09310	N	1	B;B;B	0.13145	0.007;0.002;0.004	B;B;B	0.08055	0.003;0.002;0.002	T	0.25606	-1.0127	10	0.48119	T	0.1	.	7.1816	0.25776	0.2095:0.1217:0.6688:0.0	.	350;350;350	E9PF76;Q96QB1-3;Q96QB1	.;.;RHG07_HUMAN	V	350	ENSP00000276297:A350V;ENSP00000321034:A350V;ENSP00000425878:A350V	ENSP00000276297:A350V	A	-	2	0	DLC1	13303474	0.031000	0.19500	0.104000	0.21259	0.836000	0.47400	1.955000	0.40372	0.391000	0.25143	-0.234000	0.12200	GCG		0.448	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094	
ADCY8	114	broad.mit.edu	37	8	131826451	131826451	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr8:131826451T>C	ENST00000286355.5	-	14	4869	c.2777A>G	c.(2776-2778)gAc>gGc	p.D926G	ADCY8_ENST00000377928.3_Missense_Mutation_p.D795G	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	926					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.D926G(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CCAAAGGAAGTCCAGGCGGGC	0.512										HNSCC(32;0.087)																											p.D926G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2777G	8						.						152.0	120.0	131.0					8																	131826451		2203	4300	6503	131895633	SO:0001583	missense	114	exon14			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.2777A>G	8.37:g.131826451T>C	ENSP00000286355:p.Asp926Gly		131895633	NM_001115		Missense_Mutation	SNP	ENST00000286355.5	37	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	T	32	5.156446	0.94686	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	D;D	0.82167	-1.58;-1.5	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.90950	0.7155	M	0.80332	2.49	0.46927	D	0.999254	D;D	0.89917	0.992;1.0	D;D	0.83275	0.967;0.996	D	0.91319	0.5080	10	0.52906	T	0.07	.	14.3157	0.66450	0.0:0.0:0.0:1.0	.	795;926	E7EVL1;P40145	.;ADCY8_HUMAN	G	926;795	ENSP00000286355:D926G;ENSP00000367161:D795G	ENSP00000286355:D926G	D	-	2	0	ADCY8	131895633	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.642000	0.83385	2.371000	0.80710	0.533000	0.62120	GAC		0.512	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1		
SGCZ	137868	broad.mit.edu	37	8	14181674	14181674	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr8:14181674G>A	ENST00000382080.1	-	3	989	c.274C>T	c.(274-276)Cga>Tga	p.R92*	SGCZ_ENST00000421524.2_Intron	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	79					membrane organization (GO:0061024)|muscle cell cellular homeostasis (GO:0046716)|muscle cell development (GO:0055001)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|sarcoglycan complex (GO:0016012)		p.R92*(1)		NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		CCTTCAAGTCGGATTCCCTTC	0.358																																					p.R92X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C274T	8						.						118.0	112.0	114.0					8																	14181674		2203	4300	6503	14226045	SO:0001587	stop_gained	137868	exon3			AY028700	CCDS5992.2	8p22	2014-09-17	2010-04-21		ENSG00000185053	ENSG00000185053			14075	protein-coding gene	gene with protein product		608113				12189167	Standard	XM_006716287		Approved	ZSG1	uc003wwq.3	Q96LD1	OTTHUMG00000090827	ENST00000382080.1:c.274C>T	8.37:g.14181674G>A	ENSP00000371512:p.Arg92*		14226045	NM_139167	Q6REU0	Nonsense_Mutation	SNP	ENST00000382080.1	37	CCDS5992.2	.	.	.	.	.	.	.	.	.	.	G	43	10.493145	0.99415	.	.	ENSG00000185053	ENST00000382080	.	.	.	5.27	5.27	0.74061	.	0.079076	0.52532	D	0.000064	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.8551	0.88760	0.0:0.0:1.0:0.0	.	.	.	.	X	92	.	ENSP00000371512:R92X	R	-	1	2	SGCZ	14226045	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.014000	0.64029	2.642000	0.89623	0.563000	0.77884	CGA		0.358	SGCZ-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207636.2	NM_139167	
TG	7038	broad.mit.edu	37	8	133900739	133900739	+	Missense_Mutation	SNP	G	G	A	rs374707675	byFrequency	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr8:133900739G>A	ENST00000220616.4	+	10	2727	c.2687G>A	c.(2686-2688)cGg>cAg	p.R896Q	TG_ENST00000377869.1_Missense_Mutation_p.R896Q	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	896	Thyroglobulin type-1 7. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.R896Q(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TTTGATCTTCGGAACTGCTGG	0.512													G|||	2	0.000399361	0.0008	0.0	5008	,	,		19019	0.001		0.0	False		,,,				2504	0.0				p.R896Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2687A	8						.	G	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	36.0	35.0	35.0		2687	5.9	1.0	8		35	0,8600		0,0,4300	no	missense	TG	NM_003235.4	43	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	896/2769	133900739	2,13004	2203	4300	6503	133969921	SO:0001583	missense	7038	exon10			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.2687G>A	8.37:g.133900739G>A	ENSP00000220616:p.Arg896Gln		133969921	NM_003235	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.195443	0.78902	4.54E-4	0.0	ENSG00000042832	ENST00000377869;ENST00000220616	T;T	0.62941	-0.01;-0.01	5.92	5.92	0.95590	Thyroglobulin type-1 (4);	0.089384	0.47455	D	0.000233	T	0.79488	0.4454	M	0.72894	2.215	0.35925	D	0.832132	D	0.89917	1.0	D	0.78314	0.991	T	0.82530	-0.0411	10	0.54805	T	0.06	.	19.3132	0.94199	0.0:0.0:1.0:0.0	.	896	P01266	THYG_HUMAN	Q	896	ENSP00000367100:R896Q;ENSP00000220616:R896Q	ENSP00000220616:R896Q	R	+	2	0	TG	133969921	1.000000	0.71417	0.969000	0.41365	0.255000	0.26057	8.115000	0.89572	2.811000	0.96726	0.637000	0.83480	CGG		0.512	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235	
DLGAP2	9228	broad.mit.edu	37	8	1626770	1626770	+	Silent	SNP	G	G	A	rs370355615		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr8:1626770G>A	ENST00000421627.2	+	9	2573	c.2439G>A	c.(2437-2439)gcG>gcA	p.A813A	DLGAP2_ENST00000524065.1_3'UTR	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	892					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)		p.A821A(1)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		AGAGAGAGGCGGAGGAGAACG	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		16268	0.001		0.0	False		,,,				2504	0.0				p.A813A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2439A	8						.	G		0,3896		0,0,1948	18.0	19.0	19.0		2439	-10.7	0.1	8		19	1,8289		0,1,4144	no	coding-synonymous	DLGAP2	NM_004745.3		0,1,6092	AA,AG,GG		0.0121,0.0,0.0082		813/976	1626770	1,12185	1948	4145	6093	1614177	SO:0001819	synonymous_variant	9228	exon9			AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.2439G>A	8.37:g.1626770G>A			1614177	NM_004745	A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Silent	SNP	ENST00000421627.2	37	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	G	0.568	-0.842552	0.02671	0.0	1.21E-4	ENSG00000198010	ENST00000520901	.	.	.	5.33	-10.7	0.00240	.	.	.	.	.	T	0.32376	0.0827	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44590	-0.9318	4	.	.	.	-7.9463	1.6233	0.02718	0.3644:0.3065:0.17:0.1591	.	.	.	.	Q	816	.	.	R	+	2	0	DLGAP2	1614177	0.000000	0.05858	0.052000	0.19188	0.134000	0.20937	-2.439000	0.01016	-3.319000	0.00188	-2.557000	0.00176	CGG		0.512	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745	
ARHGEF10	9639	broad.mit.edu	37	8	1808262	1808262	+	Silent	SNP	C	C	T	rs372907036		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr8:1808262C>T	ENST00000398564.1	+	4	465	c.465C>T	c.(463-465)tgC>tgT	p.C155C	ARHGEF10_ENST00000520359.1_Silent_p.C131C|ARHGEF10_ENST00000518288.1_Silent_p.C155C|ARHGEF10_ENST00000349830.3_Silent_p.C131C|ARHGEF10_ENST00000262112.6_Silent_p.C155C|ARHGEF10_ENST00000398560.1_Silent_p.C155C			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	155					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.C155C(1)		endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CTGTACCCTGCGGCTATGCGG	0.667																																					p.C131C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C393T	8						.	C		0,4406		0,0,2203	131.0	108.0	116.0		393	-4.3	1.0	8		116	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ARHGEF10	NM_014629.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		131/1345	1808262	2,13004	2203	4300	6503	1795669	SO:0001819	synonymous_variant	9639	exon4			AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"""Rho guanine nucleotide exchange factors"""	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.465C>T	8.37:g.1808262C>T			1795669	NM_014629	O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Silent	SNP	ENST00000398564.1	37																																																																																					0.667	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding			
ARHGEF10	9639	broad.mit.edu	37	8	1905171	1905171	+	Silent	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr8:1905171A>G	ENST00000398564.1	+	29	3852	c.3852A>G	c.(3850-3852)tcA>tcG	p.S1284S	ARHGEF10_ENST00000520359.1_Silent_p.S1221S|ARHGEF10_ENST00000518288.1_Silent_p.S1283S|ARHGEF10_ENST00000521927.1_3'UTR|ARHGEF10_ENST00000349830.3_Silent_p.S1259S|ARHGEF10_ENST00000262112.6_Silent_p.S1255S			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	1284	Ser-rich.				centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S1284S(1)|p.S1036S(1)		endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TGTCCTCCTCATCTGGGTCCC	0.557																																					p.S1259S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A3777G	8						.						118.0	109.0	112.0					8																	1905171		2203	4300	6503	1892578	SO:0001819	synonymous_variant	9639	exon29			AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"""Rho guanine nucleotide exchange factors"""	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.3852A>G	8.37:g.1905171A>G			1892578	NM_014629	O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Silent	SNP	ENST00000398564.1	37																																																																																					0.557	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding			
MCPH1	79648	broad.mit.edu	37	8	6302639	6302639	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr8:6302639delA	ENST00000344683.5	+	8	1472	c.1396delA	c.(1396-1398)aaafs	p.K467fs	MCPH1_ENST00000519480.1_Frame_Shift_Del_p.K467fs|MCPH1_ENST00000522905.1_Frame_Shift_Del_p.K419fs	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	467					cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)	p.T468fs*32(2)	AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		CTGCGTTGGCAAAAAAACCAG	0.443																																					p.K466fs	Colon(95;1448 1467 8277 34473 35819)											.	.	2	Deletion - Frameshift(2)	large_intestine(1)|lung(1)	c.1396delA	8						.						80.0	78.0	79.0					8																	6302639		1856	4107	5963	6290047	SO:0001589	frameshift_variant	79648	exon8			AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"""BRCT-repeat inhibitor of TERT expression 1"""	607117	"""microcephaly, primary autosomal recessive 1"""			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.1396delA	8.37:g.6302639delA	ENSP00000342924:p.Lys467fs		6290047	NM_024596	B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Frame_Shift_Del	DEL	ENST00000344683.5	37	CCDS43689.1																																																																																				0.443	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374532.2	NM_024596	
MTMR7	9108	broad.mit.edu	37	8	17157405	17157405	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr8:17157405C>T	ENST00000180173.5	-	14	1983	c.1949G>A	c.(1948-1950)cGg>cAg	p.R650Q	MTMR7_ENST00000398099.3_Missense_Mutation_p.R241Q|VPS37A_ENST00000521162.1_3'UTR	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	650					inositol phosphate dephosphorylation (GO:0046855)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	protein tyrosine phosphatase activity (GO:0004725)	p.R650Q(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		ATCAGAATCCCGGTCCTTGCC	0.507																																					p.R650Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1949A	8						.						86.0	80.0	82.0					8																	17157405		2203	4300	6503	17201776	SO:0001583	missense	9108	exon14			AF073482	CCDS34851.1	8p22	2011-06-09			ENSG00000003987	ENSG00000003987		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7454	protein-coding gene	gene with protein product		603562				9736772, 12890864	Standard	NM_004686		Approved		uc003wxm.3	Q9Y216	OTTHUMG00000163771	ENST00000180173.5:c.1949G>A	8.37:g.17157405C>T	ENSP00000180173:p.Arg650Gln		17201776	NM_004686	A1L4K9|B4DG87|Q68DX4	Missense_Mutation	SNP	ENST00000180173.5	37	CCDS34851.1	.	.	.	.	.	.	.	.	.	.	C	10.34	1.324163	0.24080	.	.	ENSG00000003987	ENST00000180173;ENST00000398099	D;T	0.93076	-3.16;-1.05	5.22	4.29	0.51040	.	0.384366	0.28203	N	0.016216	D	0.84325	0.5447	N	0.08118	0	0.27671	N	0.946755	B	0.16166	0.016	B	0.06405	0.002	T	0.71017	-0.4714	10	0.23891	T	0.37	.	14.1072	0.65099	0.0:0.7661:0.2339:0.0	.	650	Q9Y216	MTMR7_HUMAN	Q	650;241	ENSP00000180173:R650Q;ENSP00000381171:R241Q	ENSP00000180173:R650Q	R	-	2	0	MTMR7	17201776	0.992000	0.36948	0.992000	0.48379	0.106000	0.19336	2.400000	0.44504	2.890000	0.99128	0.585000	0.79938	CGG		0.507	MTMR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375311.1	NM_004686	
LOXL2	4017	broad.mit.edu	37	8	23225705	23225705	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr8:23225705C>T	ENST00000389131.3	-	2	529	c.160G>A	c.(160-162)Gcc>Acc	p.A54T	RP11-177H13.2_ENST00000519692.1_RNA	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	54					aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)	p.A54T(1)|p.Q48_A54delQAPANVA(1)|p.Q48_A54del(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		TGAATCTTGGCCACGTTGGCG	0.642																																					p.A54T												.	.	3	Deletion - In frame(2)|Substitution - Missense(1)	breast(2)|large_intestine(1)	c.G160A	8						.						52.0	51.0	52.0					8																	23225705		2203	4300	6503	23281650	SO:0001583	missense	4017	exon2			U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.160G>A	8.37:g.23225705C>T	ENSP00000373783:p.Ala54Thr		23281650	NM_002318	B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Missense_Mutation	SNP	ENST00000389131.3	37	CCDS34864.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.319765	0.23994	.	.	ENSG00000134013	ENST00000389131;ENST00000524144;ENST00000520871;ENST00000518083;ENST00000524168;ENST00000519243	T;T;T;T;T;T	0.09723	5.15;4.83;4.87;4.65;4.49;2.95	5.39	2.35	0.29111	Speract/scavenger receptor-related (1);	0.450839	0.22396	N	0.060611	T	0.05868	0.0153	N	0.22421	0.69	0.21020	N	0.999801	B	0.10296	0.003	B	0.12156	0.007	T	0.41928	-0.9481	10	0.13108	T	0.6	.	6.0934	0.20007	0.0:0.5092:0.3017:0.1891	.	54	Q9Y4K0	LOXL2_HUMAN	T	54;135;95;54;54;54	ENSP00000373783:A54T;ENSP00000427883:A135T;ENSP00000429778:A95T;ENSP00000430519:A54T;ENSP00000428497:A54T;ENSP00000428933:A54T	ENSP00000373783:A54T	A	-	1	0	LOXL2	23281650	0.999000	0.42202	0.072000	0.20136	0.005000	0.04900	3.174000	0.50847	0.766000	0.33244	-0.251000	0.11542	GCC		0.642	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1		
ADAM7	8756	broad.mit.edu	37	8	24346677	24346677	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr8:24346677C>A	ENST00000175238.6	+	12	1180	c.1097C>A	c.(1096-1098)cCt>cAt	p.P366H	RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.P366H|RP11-561E1.1_ENST00000519364.1_RNA|ADAM7_ENST00000520720.1_Missense_Mutation_p.P138H	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	366	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P366H(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TCTAGCATTCCTGCACTGAAA	0.348																																					p.P366H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1097A	8						.						113.0	102.0	106.0					8																	24346677		2203	4300	6503	24402567	SO:0001583	missense	8756	exon12			AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"""ADAM metallopeptidase domain containing"""	214	protein-coding gene	gene with protein product		607310	"""a disintegrin and metalloproteinase domain 7"""				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.1097C>A	8.37:g.24346677C>A	ENSP00000175238:p.Pro366His		24402567	NM_003817	A8K8X7|O75959|Q6PEJ6	Missense_Mutation	SNP	ENST00000175238.6	37	CCDS6045.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.827660	0.71143	.	.	ENSG00000069206	ENST00000175238;ENST00000380789;ENST00000520720;ENST00000335595	T;T;T	0.31769	1.48;1.48;1.48	5.74	5.74	0.90152	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.56097	D	0.000039	T	0.57403	0.2051	M	0.78285	2.405	0.41378	D	0.987535	D;D	0.89917	1.0;1.0	D;D	0.97110	0.995;1.0	T	0.53330	-0.8454	10	0.31617	T	0.26	.	17.4289	0.87534	0.0:1.0:0.0:0.0	.	138;366	E5RK87;Q9H2U9	.;ADAM7_HUMAN	H	366;366;138;181	ENSP00000175238:P366H;ENSP00000370166:P366H;ENSP00000430400:P138H	ENSP00000175238:P366H	P	+	2	0	ADAM7	24402567	0.910000	0.30920	1.000000	0.80357	0.680000	0.39746	5.092000	0.64511	2.703000	0.92315	0.655000	0.94253	CCT		0.348	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817	
ADRA1A	148	broad.mit.edu	37	8	26721748	26721748	+	Missense_Mutation	SNP	C	C	T	rs3730287	byFrequency	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr8:26721748C>T	ENST00000519229.1	-	1	745	c.739G>A	c.(739-741)Ggg>Agg	p.G247R	ADRA1A_ENST00000276393.4_Missense_Mutation_p.G247R|ADRA1A_ENST00000380581.2_Missense_Mutation_p.G247R|ADRA1A_ENST00000380572.3_Missense_Mutation_p.G247R|ADRA1A_ENST00000380587.1_Missense_Mutation_p.G247R|ADRA1A_ENST00000380586.1_Missense_Mutation_p.G247R|ADRA1A_ENST00000358857.5_Missense_Mutation_p.G247R|ADRA1A_ENST00000380573.3_Missense_Mutation_p.G247R|ADRA1A_ENST00000354550.4_Missense_Mutation_p.G247R|ADRA1A_ENST00000380582.3_Missense_Mutation_p.G247R			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	320					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)	p.G247R(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	CTGGCCATCCCGCTGCCTCCT	0.632													C|||	30	0.00599042	0.0	0.0187	5008	,	,		18191	0.0169		0.0	False		,,,				2504	0.0				p.G247R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G739A	8	GRCh37	CM057866	ADRA1A	M	rs3730287	.	C	ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY	4,4402	8.1+/-20.4	0,4,2199	50.0	47.0	48.0		739,739,739,739	3.4	0.1	8	dbSNP_107	48	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense,missense	ADRA1A	NM_000680.2,NM_033302.2,NM_033303.3,NM_033304.2	125,125,125,125	0,6,6497	TT,TC,CC		0.0233,0.0908,0.0461	benign,benign,benign,benign	247/467,247/430,247/476,247/456	26721748	6,13000	2203	4300	6503	26777665	SO:0001583	missense	148	exon1			L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"""GPCR / Class A : Adrenoceptors : alpha"""	277	protein-coding gene	gene with protein product		104221	"""adrenergic, alpha-1A-, receptor"""	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000519229.1:c.739G>A	8.37:g.26721748C>T	ENSP00000430793:p.Gly247Arg		26777665	NM_033302	Q9NPY0	Missense_Mutation	SNP	ENST00000519229.1	37		11	0.005036630036630037	0	0.0	2	0.0055248618784530384	9	0.015734265734265736	0	0.0	C	0.027	-1.366475	0.01225	9.08E-4	2.33E-4	ENSG00000120907	ENST00000380586;ENST00000380587;ENST00000380582;ENST00000380581;ENST00000519229;ENST00000354550;ENST00000276393;ENST00000380573;ENST00000380572;ENST00000358857	D;D;D;D;D;D;D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96;-2.96;-2.96;-2.96;-2.96;-2.96;-2.96	5.27	3.36	0.38483	GPCR, rhodopsin-like superfamily (1);	1.092040	0.06893	N	0.804565	T	0.74504	0.3725	N	0.16233	0.39	0.09310	N	1	B;B;B;B;B;B	0.26363	0.147;0.147;0.037;0.147;0.008;0.112	B;B;B;B;B;B	0.18561	0.013;0.013;0.015;0.009;0.005;0.022	T	0.69124	-0.5228	10	0.37606	T	0.19	.	7.6736	0.28473	0.355:0.5194:0.1256:0.0	rs3730287	247;247;247;247;247;247	P35348-9;P35348-8;P35348;P35348-4;P35348-3;B0ZBD3	.;.;ADA1A_HUMAN;.;.;.	R	247	ENSP00000369960:G247R;ENSP00000369961:G247R;ENSP00000369956:G247R;ENSP00000369955:G247R;ENSP00000430793:G247R;ENSP00000346557:G247R;ENSP00000276393:G247R;ENSP00000369947:G247R;ENSP00000369946:G247R;ENSP00000351725:G247R	ENSP00000276393:G247R	G	-	1	0	ADRA1A	26777665	0.000000	0.05858	0.092000	0.20876	0.123000	0.20343	0.487000	0.22356	2.604000	0.88044	0.563000	0.77884	GGG		0.632	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000376207.1	NM_033303	
ESCO2	157570	broad.mit.edu	37	8	27645446	27645446	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr8:27645446T>C	ENST00000305188.8	+	6	1296	c.1058T>C	c.(1057-1059)aTg>aCg	p.M353T	ESCO2_ENST00000397418.2_Start_Codon_SNP_p.M1T	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	353					chromosome segregation (GO:0007059)|double-strand break repair (GO:0006302)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|protein localization to chromatin (GO:0071168)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromocenter (GO:0010369)|Golgi apparatus (GO:0005794)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|XY body (GO:0001741)	lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|metal ion binding (GO:0046872)	p.M353T(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		GTCAACTTCATGAAACAGACC	0.333									SC Phocomelia syndrome																												p.M353T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1058C	8						.						98.0	100.0	99.0					8																	27645446		2203	4300	6503	27701365	SO:0001583	missense	157570	exon6	Familial Cancer Database	SC-Pseudothalidomide s., incl.: Roberts s.	AF306679	CCDS34872.1	8p21.1	2013-05-02	2013-05-02		ENSG00000171320	ENSG00000171320			27230	protein-coding gene	gene with protein product		609353	"""Roberts syndrome"", ""establishment of cohesion 1 homolog 2 (S. cerevisiae)"""	RBS		15958495, 16775838, 15821733, 16380922	Standard	XR_247122		Approved	EFO2	uc003xgg.3	Q56NI9	OTTHUMG00000163901	ENST00000305188.8:c.1058T>C	8.37:g.27645446T>C	ENSP00000306999:p.Met353Thr		27701365	NM_001017420	B3KW59|Q49AP4	Missense_Mutation	SNP	ENST00000305188.8	37	CCDS34872.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	7.181|7.181	0.589529|0.589529	0.13812|0.13812	.|.	.|.	ENSG00000171320|ENSG00000171320	ENST00000305188;ENST00000397418|ENST00000518262	T;T|.	0.71817|.	-0.01;-0.6|.	5.79|5.79	4.65|4.65	0.58169|0.58169	.|.	1.720780|.	0.03017|.	N|.	0.150138|.	T|.	0.35248|.	0.0925|.	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|.	0.12426|.	-1.0548|.	10|.	0.20046|.	T|.	0.44|.	-0.1693|-0.1693	6.0566|6.0566	0.19815|0.19815	0.0:0.0831:0.1641:0.7528|0.0:0.0831:0.1641:0.7528	.|.	353|.	Q56NI9|.	ESCO2_HUMAN|.	T|R	353;1|58	ENSP00000306999:M353T;ENSP00000380563:M1T|.	ENSP00000306999:M353T|.	M|X	+|+	2|1	0|0	ESCO2|ESCO2	27701365|27701365	0.998000|0.998000	0.40836|0.40836	0.991000|0.991000	0.47740|0.47740	0.050000|0.050000	0.14768|0.14768	2.689000|2.689000	0.46993|0.46993	1.030000|1.030000	0.39839|0.39839	0.459000|0.459000	0.35465|0.35465	ATG|TGA		0.333	ESCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376276.1	NM_001017420	
TEX15	56154	broad.mit.edu	37	8	30701796	30701796	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr8:30701796C>T	ENST00000256246.2	-	1	4812	c.4738G>A	c.(4738-4740)Gcc>Acc	p.A1580T		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1580					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.A1580T(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TCAGAGTGGGCAGGTAAAATA	0.398																																					p.A1580T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4738A	8						.						136.0	135.0	135.0					8																	30701796		2203	4299	6502	30821338	SO:0001583	missense	56154	exon1			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.4738G>A	8.37:g.30701796C>T	ENSP00000256246:p.Ala1580Thr		30821338	NM_031271		Missense_Mutation	SNP	ENST00000256246.2	37	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	C	12.42	1.933112	0.34096	.	.	ENSG00000133863	ENST00000256246	T	0.10763	2.84	4.48	2.6	0.31112	.	1.194470	0.06107	N	0.666480	T	0.11367	0.0277	L	0.43152	1.355	0.09310	N	1	P	0.35348	0.496	B	0.34242	0.178	T	0.34354	-0.9832	10	0.87932	D	0	.	6.3951	0.21609	0.0:0.7624:0.0:0.2376	.	1580	Q9BXT5	TEX15_HUMAN	T	1580	ENSP00000256246:A1580T	ENSP00000256246:A1580T	A	-	1	0	TEX15	30821338	0.000000	0.05858	0.002000	0.10522	0.206000	0.24218	0.100000	0.15231	0.572000	0.29383	0.591000	0.81541	GCC		0.398	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1		
PRKDC	5591	broad.mit.edu	37	8	48706989	48706989	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr8:48706989G>A	ENST00000314191.2	-	75	10585	c.10529C>T	c.(10528-10530)gCc>gTc	p.A3510V	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.A3510V	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3511	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.A3511V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	AACAGCAACGGCTTGGTCTTT	0.468								Non-homologous end-joining																													p.P3511S	Esophageal Squamous(79;1091 1253 12329 31680 40677)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C10531T	8						.						86.0	84.0	85.0					8																	48706989		1920	4128	6048	48869542	SO:0001583	missense	5591	exon74				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.10529C>T	8.37:g.48706989G>A	ENSP00000313420:p.Ala3510Val		48869542	NM_001081640	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37		.	.	.	.	.	.	.	.	.	.	G	16.86	3.238734	0.58995	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02890	4.18;4.12	5.86	4.99	0.66335	PIK-related kinase (1);	0.177137	0.48767	D	0.000178	T	0.13030	0.0316	M	0.78049	2.395	0.47183	D	0.999344	D;P	0.59767	0.986;0.78	P;B	0.57009	0.811;0.428	T	0.00852	-1.1540	10	0.72032	D	0.01	.	17.199	0.86901	0.0:0.1259:0.8741:0.0	.	3510;3511	E7EUY0;P78527	.;PRKDC_HUMAN	V	3510	ENSP00000313420:A3510V;ENSP00000345182:A3510V	ENSP00000313420:A3510V	A	-	2	0	PRKDC	48869542	1.000000	0.71417	0.385000	0.26158	0.005000	0.04900	6.175000	0.71949	1.481000	0.48307	0.655000	0.94253	GCC		0.468	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640	
PRKDC	5591	broad.mit.edu	37	8	48774983	48774983	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr8:48774983T>C	ENST00000314191.2	-	44	5923	c.5867A>G	c.(5866-5868)aAt>aGt	p.N1956S	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.N1956S	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1957					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.N1957S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TTTTAACTCATTGAAGACACA	0.418								Non-homologous end-joining																													p.M1957V	Esophageal Squamous(79;1091 1253 12329 31680 40677)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5869G	8						.						76.0	73.0	74.0					8																	48774983		1893	4122	6015	48937536	SO:0001583	missense	5591	exon43				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.5867A>G	8.37:g.48774983T>C	ENSP00000313420:p.Asn1956Ser		48937536	NM_001081640	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37		.	.	.	.	.	.	.	.	.	.	T	3.356	-0.131536	0.06753	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.27890	1.64;1.64	5.77	-3.41	0.04839	NUC194 (1);Armadillo-type fold (1);	0.620415	0.17313	N	0.178795	T	0.15696	0.0378	N	0.19112	0.55	0.19300	N	0.999975	B;B	0.11235	0.004;0.004	B;B	0.15052	0.012;0.012	T	0.18304	-1.0341	10	0.31617	T	0.26	.	9.5839	0.39504	0.0:0.2114:0.4733:0.3153	.	1956;1957	E7EUY0;P78527	.;PRKDC_HUMAN	S	1956	ENSP00000313420:N1956S;ENSP00000345182:N1956S	ENSP00000313420:N1956S	N	-	2	0	PRKDC	48937536	0.077000	0.21312	0.072000	0.20136	0.349000	0.29174	0.364000	0.20325	-0.437000	0.07243	-0.290000	0.09829	AAT		0.418	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640	
PRKDC	5591	broad.mit.edu	37	8	48801629	48801629	+	Missense_Mutation	SNP	G	G	A	rs376814572		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr8:48801629G>A	ENST00000314191.2	-	34	4279	c.4223C>T	c.(4222-4224)tCc>tTc	p.S1408F	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.S1408F|AC103686.1_ENST00000390136.2_RNA	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1409					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.S1409F(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TTTGTATGGGGACATCTTTAG	0.463								Non-homologous end-joining																													p.P1409S	Esophageal Squamous(79;1091 1253 12329 31680 40677)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4225T	8						.	G	PHE/SER,PHE/SER	2,3876		0,2,1937	100.0	101.0	100.0		4225,4225	4.7	0.6	8		100	0,8286		0,0,4143	no	missense,missense	PRKDC	NM_001081640.1,NM_006904.6	155,155	0,2,6080	AA,AG,GG		0.0,0.0516,0.0164	possibly-damaging,possibly-damaging	1409/4098,1409/4129	48801629	2,12162	1939	4143	6082	48964182	SO:0001583	missense	5591	exon33				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.4223C>T	8.37:g.48801629G>A	ENSP00000313420:p.Ser1408Phe		48964182	NM_001081640	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37		.	.	.	.	.	.	.	.	.	.	G	14.83	2.653826	0.47362	5.16E-4	0.0	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.03152	4.09;4.03	5.6	4.69	0.59074	.	0.158079	0.47093	D	0.000244	T	0.07683	0.0193	M	0.65498	2.005	0.46654	D	0.999148	P;P	0.44946	0.846;0.846	B;B	0.43251	0.413;0.413	T	0.04373	-1.0956	10	0.87932	D	0	.	12.5188	0.56048	0.085:0.0:0.915:0.0	.	1408;1409	E7EUY0;P78527	.;PRKDC_HUMAN	F	1408	ENSP00000313420:S1408F;ENSP00000345182:S1408F	ENSP00000313420:S1408F	S	-	2	0	PRKDC	48964182	1.000000	0.71417	0.581000	0.28614	0.014000	0.08584	6.408000	0.73285	1.263000	0.44181	0.655000	0.94253	TCC		0.463	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640	
TRAM1	23471	broad.mit.edu	37	8	71510234	71510234	+	Nonsense_Mutation	SNP	G	G	A	rs200161704		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr8:71510234G>A	ENST00000262213.2	-	4	491	c.322C>T	c.(322-324)Cga>Tga	p.R108*	TRAM1_ENST00000521049.1_5'UTR|TRAM1_ENST00000521425.1_Nonsense_Mutation_p.R22*|TRAM1_ENST00000536748.1_Nonsense_Mutation_p.R77*	NM_014294.5	NP_055109.1	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	108					cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.R108*(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			AAGTGCATTCGCCTGTTAATT	0.318													G|||	1	0.000199681	0.0	0.0	5008	,	,		12626	0.0		0.001	False		,,,				2504	0.0				p.R108X	Ovarian(85;984 1334 5116 12432 40638)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C322T	8						.						73.0	71.0	72.0					8																	71510234		2203	4300	6503	71672788	SO:0001587	stop_gained	23471	exon4			X63679	CCDS6207.1	8q13.1	2004-01-22			ENSG00000067167	ENSG00000067167			20568	protein-coding gene	gene with protein product		605190				1315422	Standard	NM_014294		Approved	TRAM, TRAMP	uc003xyo.2	Q15629	OTTHUMG00000164428	ENST00000262213.2:c.322C>T	8.37:g.71510234G>A	ENSP00000262213:p.Arg108*		71672788	NM_014294	B4E0K2	Nonsense_Mutation	SNP	ENST00000262213.2	37	CCDS6207.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	34	5.369190	0.95900	.	.	ENSG00000067167	ENST00000521425;ENST00000262213;ENST00000536748;ENST00000518678	.	.	.	5.95	5.95	0.96441	.	0.120384	0.53938	D	0.000060	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.1482	15.0248	0.71659	0.0:0.0:0.8246:0.1754	.	.	.	.	X	22;108;77;77	.	ENSP00000262213:R108X	R	-	1	2	TRAM1	71672788	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.615000	0.54167	2.824000	0.97209	0.655000	0.94253	CGA		0.318	TRAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378738.1	NM_014294	
XKR9	389668	broad.mit.edu	37	8	71646303	71646303	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr8:71646303T>A	ENST00000408926.3	+	5	1300	c.766T>A	c.(766-768)Tgt>Agt	p.C256S	XKR9_ENST00000520273.1_Intron|XKR9_ENST00000520030.1_Missense_Mutation_p.C256S	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	256						integral component of membrane (GO:0016021)		p.C256S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			GTTTTGTACTTGTATAAGTAT	0.284																																					p.C256S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T766A	8						.						118.0	117.0	118.0					8																	71646303		2201	4297	6498	71808857	SO:0001583	missense	389668	exon5			AY534247	CCDS34905.1	8q13.3	2006-01-12	2006-01-12			ENSG00000221947			20937	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 9"""				Standard	NM_001287258		Approved		uc003xyq.3	Q5GH70		ENST00000408926.3:c.766T>A	8.37:g.71646303T>A	ENSP00000386141:p.Cys256Ser		71808857	NM_001011720	B2RNS9|B9EH74	Missense_Mutation	SNP	ENST00000408926.3	37	CCDS34905.1	.	.	.	.	.	.	.	.	.	.	T	0.009	-1.804356	0.00611	.	.	ENSG00000221947	ENST00000408926;ENST00000520030	T;T	0.58210	0.35;0.35	4.89	4.89	0.63831	.	0.058662	0.64402	N	0.000001	T	0.11239	0.0274	N	0.00044	-2.455	0.20196	N	0.999921	B	0.02656	0.0	B	0.01281	0.0	T	0.26883	-1.0090	10	0.02654	T	1	-7.1627	10.0009	0.41929	0.1507:0.0:0.0:0.8493	.	256	Q5GH70	XKR9_HUMAN	S	256	ENSP00000386141:C256S;ENSP00000431088:C256S	ENSP00000386141:C256S	C	+	1	0	XKR9	71808857	1.000000	0.71417	0.968000	0.41197	0.066000	0.16364	3.046000	0.49846	2.054000	0.61138	0.460000	0.39030	TGT		0.284	XKR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378752.1	NM_001011720	
RPL7	6129	broad.mit.edu	37	8	74204982	74204982	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr8:74204982C>T	ENST00000352983.2	-	2	350	c.65G>A	c.(64-66)cGa>cAa	p.R22Q	RPL7_ENST00000396466.1_5'UTR|RPL7_ENST00000396467.1_5'UTR|RPL7_ENST00000487500.1_5'Flank|RDH10_ENST00000240285.5_5'Flank|RPL7_ENST00000396465.1_5'UTR			P18124	RL7_HUMAN	ribosomal protein L7	22	4 X 12 AA tandem repeats.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.R22Q(1)		breast(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(64;0.0954)		Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134)			GAAATTCCTTCGCTTTTTCTT	0.423																																					p.R22Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G65A	8						.						65.0	74.0	71.0					8																	74204982		2203	4297	6500	74367536	SO:0001583	missense	6129	exon2			L16557	CCDS6212.1	8q13.3	2011-04-06			ENSG00000147604	ENSG00000147604		"""L ribosomal proteins"""	10363	protein-coding gene	gene with protein product		604166				8360149, 8441630	Standard	XM_006716463		Approved	humL7-1, L7	uc003xzg.3	P18124	OTTHUMG00000134312	ENST00000352983.2:c.65G>A	8.37:g.74204982C>T	ENSP00000339795:p.Arg22Gln		74367536	NM_000971	A8K504|Q15289|Q3KQU0|Q5I0X1|Q6IBM9	Missense_Mutation	SNP	ENST00000352983.2	37	CCDS6212.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.549613	0.65311	.	.	ENSG00000147604	ENST00000352983	.	.	.	4.71	3.83	0.44106	Ribosomal protein L30, N-terminal (1);	0.000000	0.56097	U	0.000024	T	0.47581	0.1453	L	0.49640	1.575	0.80722	D	1	P	0.34615	0.459	B	0.25884	0.064	T	0.50440	-0.8828	9	0.49607	T	0.09	.	12.5105	0.56003	0.0:0.9183:0.0:0.0817	.	22	P18124	RL7_HUMAN	Q	22	.	ENSP00000339795:R22Q	R	-	2	0	RPL7	74367536	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.117000	0.71577	1.190000	0.43042	0.655000	0.94253	CGA		0.423	RPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259287.1	NM_000971	
HEY1	23462	broad.mit.edu	37	8	80677884	80677884	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr8:80677884C>A	ENST00000354724.3	-	5	653	c.454G>T	c.(454-456)Gtt>Ttt	p.V152F	HEY1_ENST00000337919.5_Missense_Mutation_p.V156F|HEY1_ENST00000523976.1_Missense_Mutation_p.V62F|RP11-27N21.3_ENST00000607172.1_lincRNA|HEY1_ENST00000435063.2_5'UTR	NM_012258.3	NP_036390.3	Q9Y5J3	HEY1_HUMAN	hes-related family bHLH transcription factor with YRPW motif 1	152	Orange. {ECO:0000255|PROSITE- ProRule:PRU00380}.				angiogenesis (GO:0001525)|anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular valve formation (GO:0003190)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac septum morphogenesis (GO:0060411)|cardiac ventricle morphogenesis (GO:0003208)|cellular response to glucocorticoid stimulus (GO:0071385)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion morphogenesis (GO:0003203)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve morphogenesis (GO:0003184)|regulation of vasculogenesis (GO:2001212)|transcription from RNA polymerase II promoter (GO:0006366)|umbilical cord morphogenesis (GO:0036304)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.V152F(1)	HEY1/NCOA2(10)	cervix(1)|kidney(2)|large_intestine(5)|lung(14)	22	all_lung(9;5.1e-05)		Epithelial(68;0.076)|all cancers(69;0.179)			ACCAGTCGAACTCGAAGCGGG	0.587			T	NCOA2	mesenchymal chondrosarcoma						OREG0018837	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.V152F			Dom	yes		8	8q21	23462	hairy/enhancer-of-split related with YRPW motif 1		M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G454T	8						.						54.0	56.0	56.0					8																	80677884		2203	4300	6503	80840439	SO:0001583	missense	23462	exon5			AF151522	CCDS6225.1, CCDS43749.1, CCDS64915.1	8q21	2013-10-17	2013-10-17					"""Basic helix-loop-helix proteins"""	4880	protein-coding gene	gene with protein product		602953	"""hairy/enhancer-of-split related with YRPW motif 1"""			10415358, 10403790	Standard	NM_001040708		Approved	HESR-1, CHF2, HESR1, HRT-1, CHF-2, HERP2, BHLHb31	uc003ybl.3	Q9Y5J3		ENST00000354724.3:c.454G>T	8.37:g.80677884C>A	ENSP00000346761:p.Val152Phe	1200	80840439	NM_012258	B2R883|Q5TZS3|Q8NAM2|Q9NYP4	Missense_Mutation	SNP	ENST00000354724.3	37	CCDS6225.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.334883	0.60853	.	.	ENSG00000164683	ENST00000354724;ENST00000542205;ENST00000337919;ENST00000523976;ENST00000518733	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	4.98	4.98	0.66077	Orange subgroup (1);Orange (2);	0.258306	0.44688	D	0.000423	T	0.47266	0.1436	L	0.29908	0.895	0.49051	D	0.999744	P;P	0.46952	0.843;0.887	P;P	0.52598	0.703;0.595	T	0.50074	-0.8870	10	0.66056	D	0.02	-30.4467	18.6142	0.91296	0.0:1.0:0.0:0.0	.	152;156	Q9Y5J3;Q9Y5J3-2	HEY1_HUMAN;.	F	152;156;156;62;114	ENSP00000346761:V152F;ENSP00000338272:V156F;ENSP00000429792:V62F;ENSP00000429705:V114F	ENSP00000338272:V156F	V	-	1	0	HEY1	80840439	0.923000	0.31300	0.875000	0.34327	0.917000	0.54804	1.854000	0.39368	2.456000	0.83038	0.561000	0.74099	GTT		0.587	HEY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000379516.1	NM_012258	
RIPK2	8767	broad.mit.edu	37	8	90782051	90782051	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr8:90782051C>T	ENST00000220751.4	+	4	849	c.535C>T	c.(535-537)Cga>Tga	p.R179*	RIPK2_ENST00000540020.1_Nonsense_Mutation_p.R42*	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	179	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|defense response to Gram-positive bacterium (GO:0050830)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070427)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immature T cell proliferation (GO:0033091)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|response to exogenous dsRNA (GO:0043330)|response to interleukin-1 (GO:0070555)|response to interleukin-12 (GO:0070671)|response to interleukin-18 (GO:0070673)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|LIM domain binding (GO:0030274)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)	p.R179*(1)		kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			CTCACAGTCACGAAGTAGCAA	0.398																																					p.R179X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C535T	8						.						155.0	157.0	157.0					8																	90782051		2203	4299	6502	90851188	SO:0001587	stop_gained	8767	exon4			AC004003	CCDS6247.1	8q21	2008-05-02			ENSG00000104312	ENSG00000104312			10020	protein-coding gene	gene with protein product		603455				9575181, 9705938	Standard	XM_005251092		Approved	RICK, RIP2, CARDIAK, CARD3	uc003yee.3	O43353	OTTHUMG00000163809	ENST00000220751.4:c.535C>T	8.37:g.90782051C>T	ENSP00000220751:p.Arg179*		90851188	NM_003821	B7Z748|Q6UWF0	Nonsense_Mutation	SNP	ENST00000220751.4	37	CCDS6247.1	.	.	.	.	.	.	.	.	.	.	C	40	8.353545	0.98774	.	.	ENSG00000104312	ENST00000220751;ENST00000540020	.	.	.	5.41	3.42	0.39159	.	0.695461	0.11283	N	0.580094	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.8965	9.4694	0.38833	0.3329:0.5947:0.0:0.0724	.	.	.	.	X	179;42	.	ENSP00000220751:R179X	R	+	1	2	RIPK2	90851188	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	1.926000	0.40084	1.463000	0.47967	0.655000	0.94253	CGA		0.398	RIPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375686.1		
SLC26A7	115111	broad.mit.edu	37	8	92352747	92352747	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr8:92352747delA	ENST00000276609.3	+	8	1233	c.994delA	c.(994-996)aaafs	p.K333fs	SLC26A7_ENST00000309536.2_Frame_Shift_Del_p.K333fs|SLC26A7_ENST00000523719.1_Frame_Shift_Del_p.K333fs	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7									p.K333fs*20(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			AGGATCTGCCAAAAAATTCAA	0.502																																					p.K332fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.994delA	8						.						97.0	90.0	92.0					8																	92352747		2203	4300	6503	92421923	SO:0001589	frameshift_variant	115111	exon8			AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.994delA	8.37:g.92352747delA	ENSP00000276609:p.Lys333fs		92421923	NM_134266		Frame_Shift_Del	DEL	ENST00000276609.3	37	CCDS6254.1																																																																																				0.502	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1		
FOXH1	8928	broad.mit.edu	37	8	145701000	145701000	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr8:145701000T>A	ENST00000377317.4	-	1	718	c.140A>T	c.(139-141)cAg>cTg	p.Q47L	FOXH1_ENST00000525197.1_5'UTR	NM_003923.2	NP_003914.1	O75593	FOXH1_HUMAN	forkhead box H1	47					aorta morphogenesis (GO:0035909)|axial mesoderm development (GO:0048318)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|heart looping (GO:0001947)|negative regulation of androgen receptor activity (GO:2000824)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|outflow tract morphogenesis (GO:0003151)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|secondary heart field specification (GO:0003139)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular trabecula myocardium morphogenesis (GO:0003222)	activin responsive factor complex (GO:0032444)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|bHLH transcription factor binding (GO:0043425)|co-SMAD binding (GO:0070410)|enhancer binding (GO:0035326)|protein domain specific binding (GO:0019904)|R-SMAD binding (GO:0070412)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription regulatory region DNA binding (GO:0044212)	p.Q47L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GGGAGCGGCCTGAATCACCAA	0.632																																					p.Q47L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A140T	8						.						25.0	21.0	22.0					8																	145701000		2103	4135	6238	145671808	SO:0001583	missense	8928	exon1			AF076292	CCDS6428.1	8q24.3	2014-08-12			ENSG00000160973			"""Forkhead boxes"""	3814	protein-coding gene	gene with protein product		603621				9702198	Standard	NM_003923		Approved	FAST1	uc003zdc.3	O75593	OTTHUMG00000165172	ENST00000377317.4:c.140A>T	8.37:g.145701000T>A	ENSP00000366534:p.Gln47Leu		145671808	NM_003923	D3DWM4	Missense_Mutation	SNP	ENST00000377317.4	37	CCDS6428.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.086769	0.76642	.	.	ENSG00000160973	ENST00000377317;ENST00000292541	D	0.95412	-3.7	5.44	5.44	0.79542	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	D	0.000000	D	0.92770	0.7701	N	0.13098	0.295	0.51482	D	0.999927	P	0.47034	0.889	P	0.50896	0.653	D	0.93579	0.6911	10	0.54805	T	0.06	-25.1433	13.7386	0.62833	0.0:0.0:0.0:1.0	.	47	O75593	FOXH1_HUMAN	L	47;74	ENSP00000366534:Q47L	ENSP00000292541:Q74L	Q	-	2	0	FOXH1	145671808	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	3.033000	0.49743	2.194000	0.70268	0.533000	0.62120	CAG		0.632	FOXH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382451.1		
NOL8	55035	broad.mit.edu	37	9	95063860	95063861	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr9:95063860_95063861insA	ENST00000535387.1	-	11	3032_3033	c.3033_3034insT	c.(3031-3036)tttgatfs	p.D1012fs	NOL8_ENST00000442668.2_Frame_Shift_Ins_p.D1050fs|NOL8_ENST00000545558.1_Frame_Shift_Ins_p.D1050fs|NOL8_ENST00000358855.4_Frame_Shift_Ins_p.D982fs|NOL8_ENST00000542053.1_Frame_Shift_Ins_p.D982fs					nucleolar protein 8									p.D1052fs*1(1)|p.D1050fs*1(1)		endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						GTGTCTGAATCAAAAAAAGAGA	0.401																																					p.D1050_S1051delinsX												.	.	2	Insertion - Frameshift(2)	large_intestine(2)	c.3148_3149insT	9						.																																			94103682	SO:0001589	frameshift_variant	55035	exon13			AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"""RNA binding motif (RRM) containing"""	23387	protein-coding gene	gene with protein product		611534	"""chromosome 9 open reading frame 34"""	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.3034dupT	9.37:g.95063867_95063867dupA	ENSP00000441300:p.Asp1012fs		94103681	NM_017948		Frame_Shift_Ins	INS	ENST00000535387.1	37	CCDS47993.1																																																																																				0.401	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	NM_017948	
BAAT	570	broad.mit.edu	37	9	104133560	104133560	+	Missense_Mutation	SNP	T	T	C	rs150178434	byFrequency	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr9:104133560T>C	ENST00000395051.3	-	1	197	c.127A>G	c.(127-129)Atg>Gtg	p.M43V	BAAT_ENST00000259407.2_Missense_Mutation_p.M43V			Q14032	BAAT_HUMAN	bile acid CoA:amino acid N-acyltransferase	43					acyl-CoA metabolic process (GO:0006637)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid conjugation (GO:0002152)|bile acid metabolic process (GO:0008206)|fatty acid metabolic process (GO:0006631)|glycine metabolic process (GO:0006544)|liver development (GO:0001889)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|taurine metabolic process (GO:0019530)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carboxylic ester hydrolase activity (GO:0052689)|glycine N-choloyltransferase activity (GO:0047963)|long-chain acyl-CoA hydrolase activity (GO:0052816)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|N-acyltransferase activity (GO:0016410)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|very long chain acyl-CoA hydrolase activity (GO:0052817)	p.M43V(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	GAATAAAACATGTCTCCGTTT	0.478													T|||	2	0.000399361	0.0008	0.0014	5008	,	,		18935	0.0		0.0	False		,,,				2504	0.0				p.M43V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A127G	9						.	T	VAL/MET,VAL/MET	1,4405	2.1+/-5.4	0,1,2202	107.0	99.0	102.0		127,127	-1.5	0.0	9	dbSNP_134	102	0,8600		0,0,4300	no	missense,missense	BAAT	NM_001127610.1,NM_001701.3	21,21	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign,benign	43/419,43/419	104133560	1,13005	2203	4300	6503	103173381	SO:0001583	missense	570	exon2			L34081	CCDS6752.1	9q22.3	2014-06-24	2014-06-24		ENSG00000136881	ENSG00000136881	2.3.1.65		932	protein-coding gene	gene with protein product	"""glycine N-choloyltransferase"""	602938	"""bile acid Coenzyme A:amino acid N-acyltransferase (glycine N-choloyltransferase)"", ""bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)"""				Standard	NM_001701		Approved	BAT	uc010mtd.3	Q14032	OTTHUMG00000020377	ENST00000395051.3:c.127A>G	9.37:g.104133560T>C	ENSP00000378491:p.Met43Val		103173381	NM_001701	Q3B7W9|Q96L31	Missense_Mutation	SNP	ENST00000395051.3	37	CCDS6752.1	.	.	.	.	.	.	.	.	.	.	T	8.535	0.871861	0.17322	2.27E-4	0.0	ENSG00000136881	ENST00000259407;ENST00000395051	T;T	0.69175	-0.38;-0.38	4.41	-1.55	0.08558	Acyl-CoA thioester hydrolase/bile acid-CoA amino acid N-acetyltransferase (1);	0.546596	0.16125	N	0.228477	T	0.38134	0.1029	N	0.10733	0.035	0.09310	N	1	B	0.12013	0.005	B	0.12156	0.007	T	0.13282	-1.0515	10	0.45353	T	0.12	-0.8252	4.46	0.11661	0.0864:0.11:0.2113:0.5923	.	43	Q14032	BAAT_HUMAN	V	43	ENSP00000259407:M43V;ENSP00000378491:M43V	ENSP00000259407:M43V	M	-	1	0	BAAT	103173381	0.000000	0.05858	0.003000	0.11579	0.844000	0.47949	-4.427000	0.00235	-0.562000	0.06086	0.533000	0.62120	ATG		0.478	BAAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053433.1		
GRIN3A	116443	broad.mit.edu	37	9	104375805	104375805	+	Silent	SNP	G	G	A	rs147037319	byFrequency	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr9:104375805G>A	ENST00000361820.3	-	6	3219	c.2619C>T	c.(2617-2619)taC>taT	p.Y873Y	GRIN3A_ENST00000479772.1_5'Flank	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	873					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)	p.Y873Y(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	GGCCAATGCCGTATCCTAGAA	0.433													G|||	2	0.000399361	0.0008	0.0	5008	,	,		19368	0.0		0.0	False		,,,				2504	0.001				p.Y873Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2619T	9						.	G		2,4404	4.2+/-10.8	0,2,2201	151.0	129.0	136.0		2619	-9.2	0.7	9	dbSNP_134	136	0,8600		0,0,4300	no	coding-synonymous	GRIN3A	NM_133445.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		873/1116	104375805	2,13004	2203	4300	6503	103415626	SO:0001819	synonymous_variant	116443	exon6				CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2619C>T	9.37:g.104375805G>A			103415626	NM_133445	B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP	ENST00000361820.3	37	CCDS6758.1																																																																																				0.433	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1		
ABCA1	19	broad.mit.edu	37	9	107566961	107566961	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr9:107566961C>T	ENST00000374736.3	-	32	4899	c.4505G>A	c.(4504-4506)gGa>gAa	p.G1502E		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1502					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)	p.G1502E(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	AATGTTTCTTCCTGTCAGGTC	0.388																																					p.G1502E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4505A	9						.						231.0	214.0	220.0					9																	107566961		2203	4300	6503	106606782	SO:0001583	missense	19	exon32			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.4505G>A	9.37:g.107566961C>T	ENSP00000363868:p.Gly1502Glu		106606782	NM_005502	Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	C	33	5.281670	0.95489	.	.	ENSG00000165029	ENST00000374736	D	0.94758	-3.51	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.96645	0.8905	M	0.81112	2.525	0.80722	D	1	P	0.51351	0.944	P	0.53760	0.734	D	0.96525	0.9388	10	0.87932	D	0	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	1502	O95477	ABCA1_HUMAN	E	1502	ENSP00000363868:G1502E	ENSP00000363868:G1502E	G	-	2	0	ABCA1	106606782	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.089000	0.71384	2.941000	0.99782	0.655000	0.94253	GGA		0.388	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502	
FKTN	2218	broad.mit.edu	37	9	108397457	108397457	+	Missense_Mutation	SNP	C	C	T	rs201590151		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr9:108397457C>T	ENST00000223528.2	+	10	1422	c.1298C>T	c.(1297-1299)aCg>aTg	p.T433M	FKTN_ENST00000540160.1_3'UTR|FKTN_ENST00000448551.2_Intron|FKTN_ENST00000357998.5_Intron|FKTN_ENST00000602661.1_Missense_Mutation_p.T433M	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin	433					muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|nervous system development (GO:0007399)|regulation of protein glycosylation (GO:0060049)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transferase activity (GO:0016740)	p.T433M(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						CCTGTAAAGACGTGGGACTGG	0.463													C|||	1	0.000199681	0.0	0.0	5008	,	,		20082	0.001		0.0	False		,,,				2504	0.0				p.T433M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1298T	9						.						192.0	170.0	177.0					9																	108397457		2203	4300	6503	107437278	SO:0001583	missense	2218	exon11				CCDS6766.1	9q31-q33	2014-09-17	2007-11-21	2007-11-21	ENSG00000106692	ENSG00000106692			3622	protein-coding gene	gene with protein product		607440	"""Fukuyama type congenital muscular dystrophy (fukutin)"""	FCMD		8275093, 17036286, 17044012	Standard	NM_001079802		Approved	LGMD2M	uc004bcs.3	O75072	OTTHUMG00000020425	ENST00000223528.2:c.1298C>T	9.37:g.108397457C>T	ENSP00000223528:p.Thr433Met		107437278	NM_001079802	B4DUX9|J3KP13|Q3MIJ1|Q96TE1|Q9P295	Missense_Mutation	SNP	ENST00000223528.2	37	CCDS6766.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	15.07	2.724286	0.48728	.	.	ENSG00000106692	ENST00000223528	T	0.42131	0.98	6.04	2.28	0.28536	.	0.270147	0.47455	N	0.000235	T	0.43188	0.1236	L	0.56769	1.78	0.45490	D	0.998454	D	0.56746	0.977	P	0.47603	0.551	T	0.30736	-0.9968	10	0.51188	T	0.08	-22.9683	10.6461	0.45621	0.0:0.7508:0.0:0.2492	.	433	O75072	FKTN_HUMAN	M	433	ENSP00000223528:T433M	ENSP00000223528:T433M	T	+	2	0	FKTN	107437278	0.031000	0.19500	0.136000	0.22124	0.745000	0.42441	0.379000	0.20585	0.176000	0.19873	-0.964000	0.02622	ACG		0.463	FKTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053505.1	NM_006731	
ZNF462	58499	broad.mit.edu	37	9	109690380	109690380	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr9:109690380T>C	ENST00000277225.5	+	3	4476	c.4187T>C	c.(4186-4188)aTg>aCg	p.M1396T	ZNF462_ENST00000441147.2_Missense_Mutation_p.M241T|ZNF462_ENST00000457913.1_Missense_Mutation_p.M1396T			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1396					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.M1396T(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CCCTGGGCCATGAATGGTGAT	0.498																																					p.M1396T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4187C	9						.						97.0	84.0	88.0					9																	109690380		2203	4300	6503	108730201	SO:0001583	missense	58499	exon3			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.4187T>C	9.37:g.109690380T>C	ENSP00000277225:p.Met1396Thr		108730201	NM_021224	Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	T	11.75	1.732801	0.30684	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147	T;T;T;T	0.05382	3.45;3.89;4.02;4.03	5.57	5.57	0.84162	.	0.081614	0.85682	D	0.000000	T	0.07683	0.0193	L	0.29908	0.895	0.80722	D	1	P;P	0.44578	0.838;0.478	B;B	0.43052	0.406;0.095	T	0.39313	-0.9620	10	0.34782	T	0.22	.	15.7306	0.77800	0.0:0.0:0.0:1.0	.	1396;1396	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	T	1396;1396;279;241	ENSP00000277225:M1396T;ENSP00000414570:M1396T;ENSP00000363818:M279T;ENSP00000397306:M241T	ENSP00000277225:M1396T	M	+	2	0	ZNF462	108730201	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.637000	0.83313	2.117000	0.64856	0.459000	0.35465	ATG		0.498	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224	
HSDL2	84263	broad.mit.edu	37	9	115166386	115166386	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr9:115166386C>T	ENST00000398805.3	+	2	356	c.129C>T	c.(127-129)acC>acT	p.T43T	HSDL2_ENST00000398803.1_Silent_p.T43T|HSDL2_ENST00000262542.7_Intron|HSDL2_ENST00000488101.1_Intron|HSDL2_ENST00000539114.1_5'UTR	NM_032303.4	NP_115679.2	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	43						membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	oxidoreductase activity (GO:0016491)	p.T43T(1)		NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						CTGCAAAGACCGCCCAGCCAC	0.423																																					p.T43T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C129T	9						.						88.0	85.0	86.0					9																	115166386		1969	4158	6127	114206207	SO:0001819	synonymous_variant	84263	exon2			AY093428	CCDS43864.1, CCDS56582.1	9q32	2011-09-14			ENSG00000119471	ENSG00000119471		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	18572	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 13C, member 1"""		"""chromosome 9 open reading frame 99"""	C9orf99		12834046, 19027726	Standard	NM_032303		Approved	SDR13C1	uc004bga.2	Q6YN16	OTTHUMG00000020504	ENST00000398805.3:c.129C>T	9.37:g.115166386C>T			114206207	NM_032303	A8K1L4|A8K8X1|A8MSV3|Q658M8|Q9BT58	Silent	SNP	ENST00000398805.3	37	CCDS43864.1																																																																																				0.423	HSDL2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053681.1	NM_032303	
ASTN2	23245	broad.mit.edu	37	9	119739004	119739004	+	Missense_Mutation	SNP	C	C	T	rs571117828		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr9:119739004C>T	ENST00000313400.4	-	8	1752	c.1652G>A	c.(1651-1653)cGc>cAc	p.R551H	ASTN2_ENST00000361209.2_Missense_Mutation_p.R500H|ASTN2_ENST00000373996.3_Missense_Mutation_p.R551H|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	551					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)		p.R500H(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CCAGTCACTGCGCACACACAG	0.512													C|||	1	0.000199681	0.0	0.0	5008	,	,		20257	0.0		0.001	False		,,,				2504	0.0				p.R500H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1499A	9						.						112.0	89.0	97.0					9																	119739004		2203	4300	6503	118778825	SO:0001583	missense	23245	exon7			AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.1652G>A	9.37:g.119739004C>T	ENSP00000314038:p.Arg551His		118778825	NM_014010	A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37		.	.	.	.	.	.	.	.	.	.	C	24.0	4.480709	0.84747	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	T;T;T;T	0.24908	1.94;1.94;1.83;2.02	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.42720	0.1215	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.991;0.999	T	0.06320	-1.0833	9	.	.	.	-23.3294	19.9343	0.97131	0.0:1.0:0.0:0.0	.	500;551;551	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	H	551;551;278;500	ENSP00000314038:R551H;ENSP00000363108:R551H;ENSP00000363098:R278H;ENSP00000354504:R500H	.	R	-	2	0	ASTN2	118778825	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.456000	0.80751	2.712000	0.92718	0.650000	0.86243	CGC		0.512	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010	
STRBP	55342	broad.mit.edu	37	9	125941371	125941371	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr9:125941371C>A	ENST00000348403.5	-	4	568	c.139G>T	c.(139-141)Gat>Tat	p.D47Y	STRBP_ENST00000447404.2_Missense_Mutation_p.D47Y|STRBP_ENST00000360998.3_Missense_Mutation_p.D33Y	NM_018387.4	NP_060857.2	Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	47	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				cellular component movement (GO:0006928)|mechanosensory behavior (GO:0007638)|multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)	p.D47Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						TCCAACCAATCTGAGACATGT	0.403																																					p.D33Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G97T	9						.						198.0	183.0	188.0					9																	125941371		2203	4300	6503	124981192	SO:0001583	missense	55342	exon4			AK002169	CCDS6851.1, CCDS55337.1	9q33.1-q33.3	2008-08-29	2001-11-28		ENSG00000165209	ENSG00000165209			16462	protein-coding gene	gene with protein product		611138	"""spermatid perinuclear RNA-binding protein"", ""interleukin enhancer binding factor 3-like"""	ILF3L			Standard	NM_018387		Approved	FLJ11307, SPNR	uc004bns.3	Q96SI9	OTTHUMG00000020636	ENST00000348403.5:c.139G>T	9.37:g.125941371C>A	ENSP00000321347:p.Asp47Tyr		124981192	NM_001171137	Q32NB9|Q9BUE1|Q9BXG4|Q9H0B4|Q9H7V1|Q9NUK4	Missense_Mutation	SNP	ENST00000348403.5	37	CCDS6851.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.682436	0.68157	.	.	ENSG00000165209	ENST00000447404;ENST00000348403;ENST00000360998;ENST00000479114	T;T;T;T	0.54279	1.52;1.52;1.23;0.58	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.79082	0.4386	M	0.88570	2.965	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.81795	-0.0769	10	0.87932	D	0	-16.0222	20.2789	0.98501	0.0:1.0:0.0:0.0	.	47	Q96SI9	STRBP_HUMAN	Y	47;47;33;47	ENSP00000415968:D47Y;ENSP00000321347:D47Y;ENSP00000354271:D33Y;ENSP00000431531:D47Y	ENSP00000321347:D47Y	D	-	1	0	STRBP	124981192	1.000000	0.71417	1.000000	0.80357	0.128000	0.20619	7.487000	0.81328	2.788000	0.95919	0.650000	0.86243	GAT		0.403	STRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053982.1		
NEK6	10783	broad.mit.edu	37	9	127113141	127113141	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr9:127113141T>C	ENST00000320246.5	+	10	1002	c.857T>C	c.(856-858)aTc>aCc	p.I286T	NEK6_ENST00000373603.1_Missense_Mutation_p.I286T|NEK6_ENST00000539416.1_Missense_Mutation_p.I311T|AL137846.1_ENST00000583657.1_RNA|NEK6_ENST00000394199.2_Missense_Mutation_p.I320T|NEK6_ENST00000545174.1_Missense_Mutation_p.I286T|NEK6_ENST00000373600.3_Missense_Mutation_p.I320T|NEK6_ENST00000546191.1_Missense_Mutation_p.I286T|NEK6_ENST00000540326.1_Missense_Mutation_p.I304T|PSMB7_ENST00000498485.1_5'Flank	NM_014397.5	NP_055212.2	Q9HC98	NEK6_HUMAN	NIMA-related kinase 6	286	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cellular senescence (GO:2000772)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|signal transduction (GO:0007165)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinesin binding (GO:0019894)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)	p.I279T(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						AGCATGTGCATCTGCCCTGAC	0.557																																					p.I304T	NSCLC(122;934 1785 18647 44295 45571)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T911C	9						.						104.0	79.0	87.0					9																	127113141		2203	4300	6503	126152962	SO:0001583	missense	10783	exon10			AF087909	CCDS6854.1, CCDS48015.1, CCDS55338.1, CCDS55339.1	9q33.3-q34.11	2012-11-15	2012-11-15		ENSG00000119408	ENSG00000119408			7749	protein-coding gene	gene with protein product	"""putative serine-threonine protein kinase"""	604884	"""NIMA (never in mitosis gene a)-related kinase 6"""			10702691	Standard	NM_001145001		Approved	SID6-1512	uc004boh.3	Q9HC98	OTTHUMG00000020650	ENST00000320246.5:c.857T>C	9.37:g.127113141T>C	ENSP00000319734:p.Ile286Thr		126152962	NM_001166167	B7Z2D9|Q5TBG3|Q5TBG9|Q6FG86|Q6IAR3|Q96E83|Q9ULX2	Missense_Mutation	SNP	ENST00000320246.5	37	CCDS6854.1	.	.	.	.	.	.	.	.	.	.	T	15.14	2.744169	0.49151	.	.	ENSG00000119408	ENST00000373603;ENST00000540326;ENST00000373600;ENST00000320246;ENST00000373601;ENST00000545174;ENST00000394199;ENST00000546191;ENST00000539416	T;T;T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21	5.29	5.29	0.74685	Serine/threonine-protein kinase-like domain (1);Serine-threonine/tyrosine-protein kinase (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.73369	0.3578	L	0.33624	1.015	0.80722	D	1	D;D;D;D	0.76494	0.998;0.999;0.996;0.997	D;D;D;D	0.74023	0.982;0.972;0.969;0.972	T	0.76788	-0.2830	10	0.87932	D	0	.	14.436	0.67282	0.0:0.0:0.0:1.0	.	311;320;286;304	Q9HC98-4;Q9HC98-2;Q9HC98;Q9HC98-3	.;.;NEK6_HUMAN;.	T	286;304;320;286;218;286;320;286;311	ENSP00000362705:I286T;ENSP00000441469:I304T;ENSP00000362702:I320T;ENSP00000319734:I286T;ENSP00000442636:I286T;ENSP00000377749:I320T;ENSP00000441426:I286T;ENSP00000439651:I311T	ENSP00000319734:I286T	I	+	2	0	NEK6	126152962	1.000000	0.71417	0.996000	0.52242	0.089000	0.18198	7.677000	0.84024	2.012000	0.59069	0.477000	0.44152	ATC		0.557	NEK6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054016.1	NM_014397	
ANGPTL2	23452	broad.mit.edu	37	9	129854158	129854158	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr9:129854158G>A	ENST00000373425.3	-	4	1690	c.1073C>T	c.(1072-1074)aCg>aTg	p.T358M	RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000394022.3_Intron|ANGPTL2_ENST00000373417.1_Missense_Mutation_p.T56M	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	358	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)	p.T358M(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						GCCTTGGTTCGTCAGCCAGTA	0.547																																					p.T358M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1073T	9						.						191.0	186.0	188.0					9																	129854158		2203	4300	6503	128893979	SO:0001583	missense	23452	exon4			AF125175	CCDS6868.1	9q34	2013-02-06			ENSG00000136859	ENSG00000136859		"""Fibrinogen C domain containing"""	490	protein-coding gene	gene with protein product		605001				10473614	Standard	NM_012098		Approved	ARP2, HARP	uc004bqr.1	Q9UKU9	OTTHUMG00000020695	ENST00000373425.3:c.1073C>T	9.37:g.129854158G>A	ENSP00000362524:p.Thr358Met		128893979	NM_012098	Q5JT58|Q8NCH7	Missense_Mutation	SNP	ENST00000373425.3	37	CCDS6868.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.516842	0.85495	.	.	ENSG00000136859	ENST00000373425;ENST00000373417	D;D	0.87412	-2.25;-2.25	5.2	5.2	0.72013	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.95178	0.8437	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.96063	0.9040	10	0.87932	D	0	.	19.1061	0.93296	0.0:0.0:1.0:0.0	.	358	Q9UKU9	ANGL2_HUMAN	M	358;56	ENSP00000362524:T358M;ENSP00000362516:T56M	ENSP00000362516:T56M	T	-	2	0	ANGPTL2	128893979	1.000000	0.71417	0.992000	0.48379	0.996000	0.88848	7.895000	0.87343	2.574000	0.86865	0.655000	0.94253	ACG		0.547	ANGPTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054129.1	NM_012098	
LRSAM1	90678	broad.mit.edu	37	9	130216822	130216822	+	Missense_Mutation	SNP	C	C	T	rs140467743		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr9:130216822C>T	ENST00000323301.4	+	2	620	c.16C>T	c.(16-18)Cgg>Tgg	p.R6W	LRSAM1_ENST00000373322.1_Missense_Mutation_p.R6W|LRSAM1_ENST00000373324.4_Missense_Mutation_p.R6W|LRSAM1_ENST00000300417.6_Missense_Mutation_p.R6W	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	6					cell death (GO:0008219)|negative regulation of endocytosis (GO:0045806)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent endocytosis (GO:0070086)|viral budding (GO:0046755)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R6W(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						GCTCTTCTTCCGGAAGCGGAA	0.547																																					p.R6W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C16T	9						.	C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	106.0	102.0	103.0		16,16,16,16	5.4	1.0	9	dbSNP_134	103	0,8600		0,0,4300	no	missense,missense,missense,missense	LRSAM1	NM_001005373.2,NM_001005374.2,NM_001190723.1,NM_138361.4	101,101,101,101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	6/724,6/724,6/697,6/724	130216822	1,13005	2203	4300	6503	129256643	SO:0001583	missense	90678	exon3			AK056203	CCDS6873.1, CCDS55347.1	9q34.13	2014-09-17			ENSG00000148356	ENSG00000148356		"""Sterile alpha motif (SAM) domain containing"""	25135	protein-coding gene	gene with protein product		610933				12975309	Standard	NM_001005373		Approved	FLJ31641	uc004brd.2	Q6UWE0	OTTHUMG00000020701	ENST00000323301.4:c.16C>T	9.37:g.130216822C>T	ENSP00000322937:p.Arg6Trp		129256643	NM_001005373	Q5VVV0|Q8NB40|Q96GT5|Q96MX5|Q96MZ7	Missense_Mutation	SNP	ENST00000323301.4	37	CCDS6873.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.399018	0.83120	2.27E-4	0.0	ENSG00000148356	ENST00000300417;ENST00000373324;ENST00000323301;ENST00000373322	T;T;T;T	0.35973	1.3;1.28;1.3;1.3	5.41	5.41	0.78517	.	0.173147	0.50627	D	0.000117	T	0.51652	0.1687	L	0.38531	1.155	0.45883	D	0.998735	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.993	T	0.52704	-0.8540	10	0.72032	D	0.01	-33.0116	16.6744	0.85275	0.0:1.0:0.0:0.0	.	6;6	Q6UWE0-2;Q6UWE0	.;LRSM1_HUMAN	W	6	ENSP00000300417:R6W;ENSP00000362421:R6W;ENSP00000322937:R6W;ENSP00000362419:R6W	ENSP00000300417:R6W	R	+	1	2	LRSAM1	129256643	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.622000	0.46427	2.528000	0.85240	0.561000	0.74099	CGG		0.547	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054164.1	NM_138361	
DNM1	1759	broad.mit.edu	37	9	130982593	130982593	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr9:130982593G>A	ENST00000372923.3	+	6	914	c.822G>A	c.(820-822)acG>acA	p.T274T	DNM1_ENST00000475805.1_Silent_p.T274T|DNM1_ENST00000393594.3_Silent_p.T274T|DNM1_ENST00000486160.1_Silent_p.T274T|DNM1_ENST00000341179.7_Silent_p.T274T	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	274	Dynamin-type G.				endocytosis (GO:0006897)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)	extracellular vesicular exosome (GO:0070062)|membrane coat (GO:0030117)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.T274T(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						GTATGGGCACGCCCTACCTGC	0.522																																					p.T274T	GBM(113;146 1575 2722 28670 29921)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G822A	9						.						112.0	102.0	105.0					9																	130982593		2203	4300	6503	130022414	SO:0001819	synonymous_variant	1759	exon6			L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			ENSG00000106976	ENSG00000106976		"""Pleckstrin homology (PH) domain containing"""	2972	protein-coding gene	gene with protein product		602377		DNM		2144893, 9143509	Standard	XM_005251763		Approved		uc022bob.1	Q05193	OTTHUMG00000020733	ENST00000372923.3:c.822G>A	9.37:g.130982593G>A			130022414	NM_001005336	A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Silent	SNP	ENST00000372923.3	37	CCDS6895.1																																																																																				0.522	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054367.1	NM_004408	
GOLGA2	2801	broad.mit.edu	37	9	131020795	131020795	+	Missense_Mutation	SNP	G	G	T	rs542808005|rs112603354	byFrequency	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr9:131020795G>T	ENST00000421699.2	-	21	2159	c.2147C>A	c.(2146-2148)gCg>gAg	p.A716E	AL590708.1_ENST00000408370.1_RNA|GOLGA2_ENST00000609374.1_Missense_Mutation_p.A704E	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	716					mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)		p.A704E(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						TACTGCCACCGcctcctcctc	0.642																																					p.A716E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2147A	9						.						55.0	47.0	49.0					9																	131020795		2203	4300	6503	130060616	SO:0001583	missense	2801	exon21			L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"""Golgi matrix protein GM130"", ""SY11 protein"""	602580	"""golgi autoantigen, golgin subfamily a, 2"""			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.2147C>A	9.37:g.131020795G>T	ENSP00000416097:p.Ala716Glu		130060616	NM_004486	Q6GRM9|Q9BRB0|Q9NYF9	Missense_Mutation	SNP	ENST00000421699.2	37	CCDS6896.2	.	.	.	.	.	.	.	.	.	.	g	0.015	-1.548625	0.00926	.	.	ENSG00000167110	ENST00000421699	D	0.89617	-2.54	3.63	-6.88	0.01665	.	2.518010	0.01658	N	0.024965	T	0.71117	0.3302	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.69866	-0.5029	10	0.02654	T	1	.	1.9047	0.03275	0.1827:0.1641:0.3964:0.2568	.	716	Q08379	GOGA2_HUMAN	E	716	ENSP00000416097:A716E	ENSP00000416097:A716E	A	-	2	0	GOLGA2	130060616	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.185000	0.03073	-1.230000	0.02561	-3.167000	0.00057	GCG		0.642	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054358.2	NM_004486	
WDR34	89891	broad.mit.edu	37	9	131403080	131403080	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr9:131403080C>T	ENST00000372715.2	-	2	385	c.325G>A	c.(325-327)Gca>Aca	p.A109T		NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34	109						axoneme (GO:0005930)|centriole (GO:0005814)|ciliary basal body (GO:0036064)				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						AGAAAGGCTGCGAGCCTGGGT	0.617																																					p.A109T												.	.	0			c.G325A	9						.						68.0	56.0	60.0					9																	131403080		2203	4300	6503	130442901	SO:0001583	missense	89891	exon2			BC011874	CCDS6906.2	9q34.11	2013-11-15	2013-02-19	2013-02-19	ENSG00000119333	ENSG00000119333		"""WD repeat domain containing"""	28296	protein-coding gene	gene with protein product		613363				19521662, 21953912, 24183451	Standard	NM_052844		Approved	DIC5, MGC20486, bA216B9.3, FAP133	uc004bvq.1	Q96EX3	OTTHUMG00000020750	ENST00000372715.2:c.325G>A	9.37:g.131403080C>T	ENSP00000361800:p.Ala109Thr		130442901	NM_052844	Q5VXV4|Q9BV46	Missense_Mutation	SNP	ENST00000372715.2	37	CCDS6906.2	.	.	.	.	.	.	.	.	.	.	C	20.2	3.944041	0.73672	.	.	ENSG00000119333	ENST00000372715;ENST00000451652;ENST00000419989	T	0.65364	-0.15	5.33	3.41	0.39046	.	0.779097	0.12270	N	0.483891	T	0.63674	0.2531	M	0.66939	2.045	0.09310	N	1	P;P	0.51351	0.846;0.944	B;P	0.45712	0.226;0.491	T	0.53885	-0.8375	10	0.13853	T	0.58	-4.2248	15.1678	0.72842	0.0:0.5815:0.4185:0.0	.	94;109	A2A3F8;Q96EX3	.;WDR34_HUMAN	T	109;100;94	ENSP00000361800:A109T	ENSP00000361800:A109T	A	-	1	0	WDR34	130442901	0.000000	0.05858	0.003000	0.11579	0.703000	0.40648	0.607000	0.24209	0.572000	0.29383	0.655000	0.94253	GCA		0.617	WDR34-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054463.1	NM_052844	
NUP188	23511	broad.mit.edu	37	9	131742953	131742953	+	Silent	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr9:131742953A>G	ENST00000372577.2	+	14	1359	c.1338A>G	c.(1336-1338)ccA>ccG	p.P446P		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	446					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.P446P(1)		breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TTCTCTCCCCACTCCTGCAAC	0.493																																					p.P446P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1338G	9						.						143.0	120.0	128.0					9																	131742953		2203	4300	6503	130782774	SO:0001819	synonymous_variant	23511	exon14			D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.1338A>G	9.37:g.131742953A>G			130782774	NM_015354	Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Silent	SNP	ENST00000372577.2	37	CCDS35156.1																																																																																				0.493	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2		
FAM73B	84895	broad.mit.edu	37	9	131804643	131804643	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr9:131804643C>T	ENST00000358369.4	+	3	383	c.157C>T	c.(157-159)Ctg>Ttg	p.L53L	FAM73B_ENST00000277475.5_Silent_p.L53L|FAM73B_ENST00000474534.1_3'UTR|FAM73B_ENST00000406926.2_Silent_p.L53L	NM_032809.2	NP_116198.2	Q7L4E1	FA73B_HUMAN	family with sequence similarity 73, member B	53					bone development (GO:0060348)	integral component of membrane (GO:0016021)		p.L53L(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						TGCCACGGCCCTGGGGACTGT	0.657																																					p.L53L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C157T	9						.						49.0	41.0	43.0					9																	131804643		2203	4300	6503	130844464	SO:0001819	synonymous_variant	84895	exon3			AK074127	CCDS6917.1	9q34.13	2008-02-05	2005-08-11	2005-08-11	ENSG00000148343	ENSG00000148343			23621	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 54"""	C9orf54			Standard	NM_032809		Approved	FLJ14596, FLJ00199	uc004bxa.3	Q7L4E1	OTTHUMG00000020770	ENST00000358369.4:c.157C>T	9.37:g.131804643C>T			130844464	NM_032809	Q8NBM3|Q8TEJ6|Q969E6	Silent	SNP	ENST00000358369.4	37	CCDS6917.1																																																																																				0.657	FAM73B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054542.7	NM_032809	
DDX31	64794	broad.mit.edu	37	9	135470390	135470390	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr9:135470390C>T	ENST00000372159.3	-	20	2570	c.2419G>A	c.(2419-2421)Gca>Aca	p.A807T	DDX31_ENST00000372153.1_Missense_Mutation_p.A734T|DDX31_ENST00000438527.3_Missense_Mutation_p.A678T	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	807						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		TCTCCAGGTGCGTTTTGCTTT	0.532																																					p.A807T												.	.	0			c.G2419A	9						.						119.0	129.0	126.0					9																	135470390		2203	4300	6503	134460211	SO:0001583	missense	64794	exon20			AF427339	CCDS6951.1, CCDS6952.1	9q34.2	2012-04-17	2003-06-13		ENSG00000125485	ENSG00000125485		"""DEAD-boxes"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16715	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 25"""		"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31"""				Standard	NM_022779		Approved	FLJ13633, FLJ23349, FLJ14578, PPP1R25	uc004cbq.1	Q9H8H2	OTTHUMG00000020843	ENST00000372159.3:c.2419G>A	9.37:g.135470390C>T	ENSP00000361232:p.Ala807Thr		134460211	NM_022779	Q5K6N2|Q5K6N3|Q5K6N4|Q5VZJ4|Q5VZJ9|Q96E91|Q96NY2|Q96SX5|Q9H5K6	Missense_Mutation	SNP	ENST00000372159.3	37	CCDS6951.1	.	.	.	.	.	.	.	.	.	.	C	10.13	1.265104	0.23136	.	.	ENSG00000125485	ENST00000372159;ENST00000372153;ENST00000438527	T;T;T	0.03468	4.38;3.92;4.34	4.17	-2.53	0.06326	.	3.770280	0.00728	N	0.000932	T	0.02807	0.0084	N	0.14661	0.345	0.09310	N	1	B;B	0.17465	0.022;0.003	B;B	0.06405	0.002;0.001	T	0.44421	-0.9329	10	0.18276	T	0.48	3.4645	9.2641	0.37630	0.0:0.5016:0.0:0.4984	.	734;807	Q9H8H2-2;Q9H8H2	.;DDX31_HUMAN	T	807;734;678	ENSP00000361232:A807T;ENSP00000361226:A734T;ENSP00000387730:A678T	ENSP00000361226:A734T	A	-	1	0	DDX31	134460211	0.036000	0.19791	0.000000	0.03702	0.024000	0.10985	0.322000	0.19576	-0.751000	0.04734	-0.471000	0.05019	GCA		0.532	DDX31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054794.1	NM_138620	
DDX31	64794	broad.mit.edu	37	9	135507441	135507441	+	Missense_Mutation	SNP	G	G	A	rs370315245		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr9:135507441G>A	ENST00000372159.3	-	15	1944	c.1793C>T	c.(1792-1794)aCg>aTg	p.T598M	DDX31_ENST00000372153.1_Missense_Mutation_p.T598M|DDX31_ENST00000438527.3_Missense_Mutation_p.T469M	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	598	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.T598M(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		AACAATCCACGTGACTTGAGG	0.373																																					p.T598M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1793T	9						.	G	MET/THR	0,4406		0,0,2203	100.0	82.0	88.0		1793	4.7	0.9	9		88	1,8599	1.2+/-3.3	0,1,4299	no	missense	DDX31	NM_022779.7	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	598/852	135507441	1,13005	2203	4300	6503	134497262	SO:0001583	missense	64794	exon15			AF427339	CCDS6951.1, CCDS6952.1	9q34.2	2012-04-17	2003-06-13		ENSG00000125485	ENSG00000125485		"""DEAD-boxes"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16715	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 25"""		"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31"""				Standard	NM_022779		Approved	FLJ13633, FLJ23349, FLJ14578, PPP1R25	uc004cbq.1	Q9H8H2	OTTHUMG00000020843	ENST00000372159.3:c.1793C>T	9.37:g.135507441G>A	ENSP00000361232:p.Thr598Met		134497262	NM_022779	Q5K6N2|Q5K6N3|Q5K6N4|Q5VZJ4|Q5VZJ9|Q96E91|Q96NY2|Q96SX5|Q9H5K6	Missense_Mutation	SNP	ENST00000372159.3	37	CCDS6951.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.187583	0.57909	0.0	1.16E-4	ENSG00000125485	ENST00000372159;ENST00000372155;ENST00000372153;ENST00000438527	T;D;T	0.92858	3.47;-3.12;3.47	5.61	4.71	0.59529	Helicase, C-terminal (3);	0.047084	0.85682	D	0.000000	D	0.91994	0.7464	M	0.65498	2.005	0.80722	D	1	D;P	0.58970	0.984;0.929	P;P	0.46208	0.507;0.453	D	0.92344	0.5884	10	0.72032	D	0.01	-12.7025	14.6244	0.68611	0.0:0.0:0.853:0.147	.	598;598	Q9H8H2-2;Q9H8H2	.;DDX31_HUMAN	M	598;598;598;469	ENSP00000361232:T598M;ENSP00000361226:T598M;ENSP00000387730:T469M	ENSP00000361226:T598M	T	-	2	0	DDX31	134497262	1.000000	0.71417	0.940000	0.37924	0.997000	0.91878	5.310000	0.65780	1.350000	0.45770	0.655000	0.94253	ACG		0.373	DDX31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054794.1	NM_138620	
ADAMTSL2	9719	broad.mit.edu	37	9	136438980	136438980	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr9:136438980G>A	ENST00000354484.4	+	18	3165	c.2608G>A	c.(2608-2610)Ggg>Agg	p.G870R	ADAMTSL2_ENST00000393061.3_Missense_Mutation_p.G979R|ADAMTSL2_ENST00000393060.1_Missense_Mutation_p.G870R	NM_001145320.1	NP_001138792.1	Q86TH1	ATL2_HUMAN	ADAMTS-like 2	870	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G870R(1)		kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		CAAGACCTGCGGGGTGGGCGT	0.652																																					p.G870R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2608A	9						.																																			135428801	SO:0001583	missense	9719	exon18			AB011177	CCDS6976.1	9q34.3	2005-01-12			ENSG00000197859	ENSG00000197859			14631	protein-coding gene	gene with protein product		612277				9628581, 14667842	Standard	NM_014694		Approved	KIAA0605	uc004cei.3	Q86TH1	OTTHUMG00000131706	ENST00000354484.4:c.2608G>A	9.37:g.136438980G>A	ENSP00000346478:p.Gly870Arg		135428801	NM_001145320	B1B0D5|O60345	Missense_Mutation	SNP	ENST00000354484.4	37	CCDS6976.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.479739	0.84747	.	.	ENSG00000197859	ENST00000354484;ENST00000393061;ENST00000393060	T;T;T	0.70749	-0.51;-0.51;-0.51	3.83	3.83	0.44106	.	0.000000	0.85682	U	0.000000	D	0.90133	0.6917	H	0.98487	4.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94388	0.7611	10	0.87932	D	0	.	16.1046	0.81212	0.0:0.0:1.0:0.0	.	299;870	B3KXC5;Q86TH1	.;ATL2_HUMAN	R	870;979;870	ENSP00000346478:G870R;ENSP00000376781:G979R;ENSP00000376780:G870R	ENSP00000346478:G870R	G	+	1	0	ADAMTSL2	135428801	1.000000	0.71417	0.996000	0.52242	0.956000	0.61745	9.268000	0.95675	1.852000	0.53769	0.462000	0.41574	GGG		0.652	ADAMTSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254619.1	NM_014694	
BRD3	8019	broad.mit.edu	37	9	136913370	136913370	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr9:136913370C>T	ENST00000303407.7	-	6	1106	c.921G>A	c.(919-921)aaG>aaA	p.K307K	BRD3_ENST00000371834.2_Silent_p.K307K|BRD3_ENST00000357885.2_Silent_p.K307K	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	307					chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)	p.K307K(1)	BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		GCTCCGACAGCTTGCCCTTCT	0.647			T	C15orf55	lethal midline carcinoma of young people																																p.K307K			Dom	yes		9	9q34	8019	bromodomain containing 3		E	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G921A	9						.						73.0	57.0	63.0					9																	136913370		2203	4300	6503	135903191	SO:0001819	synonymous_variant	8019	exon6				CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"""RING3-like"""	601541	"""bromodomain-containing 3"""			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.921G>A	9.37:g.136913370C>T			135903191	NM_007371	B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Silent	SNP	ENST00000303407.7	37	CCDS6980.1																																																																																				0.647	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055390.4	NM_007371	
COL5A1	1289	broad.mit.edu	37	9	137630359	137630359	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr9:137630359G>A	ENST00000371817.3	+	10	1843	c.1429G>A	c.(1429-1431)Gcg>Acg	p.A477T		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	477	Interrupted collagenous region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGAAGGCCCCGCGGTGAGTAT	0.642																																					p.A477T												.	.	0			c.G1429A	9						.						42.0	45.0	44.0					9																	137630359		2203	4300	6503	136770180	SO:0001583	missense	1289	exon10			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.1429G>A	9.37:g.137630359G>A	ENSP00000360882:p.Ala477Thr		136770180	NM_000093	Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.532681	0.45073	.	.	ENSG00000130635	ENST00000371817	D	0.93604	-3.25	4.69	4.69	0.59074	.	0.231518	0.36200	U	0.002739	D	0.93350	0.7880	N	0.20845	0.615	0.42072	D	0.991216	D	0.76494	0.999	D	0.77004	0.989	D	0.93530	0.6869	10	0.38643	T	0.18	.	16.3829	0.83481	0.0:0.0:1.0:0.0	.	477	P20908	CO5A1_HUMAN	T	477	ENSP00000360882:A477T	ENSP00000360882:A477T	A	+	1	0	COL5A1	136770180	0.996000	0.38824	0.962000	0.40283	0.214000	0.24535	5.554000	0.67294	2.166000	0.68216	0.491000	0.48974	GCG		0.642	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093	
KDM4C	23081	broad.mit.edu	37	9	7128095	7128095	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr9:7128095C>T	ENST00000381309.3	+	19	3205	c.2640C>T	c.(2638-2640)tcC>tcT	p.S880S	KDM4C_ENST00000428870.2_Silent_p.S567S|KDM4C_ENST00000442236.2_Silent_p.S625S|KDM4C_ENST00000381306.3_Silent_p.S880S|KDM4C_ENST00000536108.1_3'UTR	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	880	Tudor 1.				histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)	p.S880S(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						AGGTCATTTCCGTGGGTCAAA	0.433																																					p.S880S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2640T	9						.						117.0	103.0	108.0					9																	7128095		2203	4300	6503	7118095	SO:0001819	synonymous_variant	23081	exon19			AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	17071	protein-coding gene	gene with protein product	"""tudor domain containing 14C"""	605469	"""jumonji domain containing 2C"""	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.2640C>T	9.37:g.7128095C>T			7118095	NM_015061	B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Silent	SNP	ENST00000381309.3	37	CCDS6471.1																																																																																				0.433	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1	NM_015061	
PTPRD	5789	broad.mit.edu	37	9	8521489	8521489	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr9:8521489C>T	ENST00000381196.4	-	17	1292	c.749G>A	c.(748-750)gGc>gAc	p.G250D	PTPRD_ENST00000540109.1_Missense_Mutation_p.G250D|PTPRD_ENST00000360074.4_Missense_Mutation_p.G237D|PTPRD_ENST00000355233.5_Missense_Mutation_p.G250D|PTPRD_ENST00000397617.3_Missense_Mutation_p.G240D|PTPRD_ENST00000397611.3_Missense_Mutation_p.G247D|PTPRD_ENST00000537002.1_Missense_Mutation_p.G247D|PTPRD_ENST00000358503.5_Missense_Mutation_p.G237D|PTPRD_ENST00000486161.1_Missense_Mutation_p.G250D|PTPRD_ENST00000397606.3_Missense_Mutation_p.G240D|PTPRD_ENST00000356435.5_Missense_Mutation_p.G250D	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	250	Ig-like C2-type 3.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.G250D(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AACGCTTCCGCCTGGCATGAT	0.473										TSP Lung(15;0.13)																											p.G247D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G740A	9						.						122.0	105.0	111.0					9																	8521489		2203	4300	6503	8511489	SO:0001583	missense	5789	exon8			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.749G>A	9.37:g.8521489C>T	ENSP00000370593:p.Gly250Asp		8511489	NM_001040712	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.781902	0.90282	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39	5.68	5.68	0.88126	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.91740	0.7388	M	0.88640	2.97	0.80722	D	1	D;D;P;P;D;D;D;D;D	0.89917	0.998;0.993;0.863;0.78;0.999;0.963;0.985;1.0;0.988	D;D;P;B;P;P;P;D;P	0.91635	0.977;0.947;0.54;0.385;0.81;0.685;0.525;0.999;0.656	D	0.92092	0.5681	9	.	.	.	.	19.7917	0.96461	0.0:1.0:0.0:0.0	.	240;244;250;250;247;247;237;250;250	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	D	250;250;237;237;250;240;247;247;250;250;250;240	ENSP00000370593:G250D;ENSP00000348812:G250D;ENSP00000353187:G237D;ENSP00000351293:G237D;ENSP00000347373:G250D;ENSP00000380741:G240D;ENSP00000380735:G247D;ENSP00000440515:G247D;ENSP00000438164:G250D;ENSP00000417093:G250D;ENSP00000380731:G240D	.	G	-	2	0	PTPRD	8511489	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.770000	0.85390	2.688000	0.91661	0.563000	0.77884	GGC		0.473	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3		
ADAMTSL1	92949	broad.mit.edu	37	9	18775764	18775764	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr9:18775764C>T	ENST00000380548.4	+	18	2760	c.2421C>T	c.(2419-2421)ggC>ggT	p.G807G		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	807	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.G807G(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GCGGGGAAGGCACCCAGACTC	0.498																																					p.G807G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2421T	9						.						53.0	57.0	56.0					9																	18775764		1961	4149	6110	18765764	SO:0001819	synonymous_variant	92949	exon18			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.2421C>T	9.37:g.18775764C>T			18765764	NM_001040272	A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Silent	SNP	ENST00000380548.4	37	CCDS47954.1																																																																																				0.498	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1		
PTPLAD2	401494	broad.mit.edu	37	9	21026666	21026666	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr9:21026666C>T	ENST00000495827.2	-	3	244	c.199G>A	c.(199-201)Gta>Ata	p.V67I	PTPLAD2_ENST00000488436.1_5'UTR|PTPLAD2_ENST00000513293.2_Missense_Mutation_p.V67I	NM_001010915.3	NP_001010915.2	Q5VWC8	HACD4_HUMAN	protein tyrosine phosphatase-like A domain containing 2	67					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	lyase activity (GO:0016829)	p.V67I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10				Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)		AGGAGAGATACGGATTGGCAA	0.383																																					p.V67I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G199A	9						.						156.0	160.0	159.0					9																	21026666		1902	4129	6031	21016666	SO:0001583	missense	401494	exon3				CCDS43791.1	9p21.3	2008-02-05			ENSG00000188921	ENSG00000188921			20920	protein-coding gene	gene with protein product		615941					Standard	NM_001010915		Approved	Em:AL662879.1, OTTHUMG00000021016	uc010mir.1	Q5VWC8	OTTHUMG00000021016	ENST00000495827.2:c.199G>A	9.37:g.21026666C>T	ENSP00000419503:p.Val67Ile		21016666	NM_001010915	Q7Z385	Missense_Mutation	SNP	ENST00000495827.2	37	CCDS43791.1	.	.	.	.	.	.	.	.	.	.	C	3.149	-0.174624	0.06421	.	.	ENSG00000188921	ENST00000513293;ENST00000495827	T;T	0.29655	1.56;1.56	5.66	-1.69	0.08186	.	0.360128	0.27609	N	0.018620	T	0.07728	0.0194	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16364	-1.0405	10	0.30078	T	0.28	-21.5444	0.8966	0.01265	0.2329:0.3248:0.17:0.2723	.	67	Q5VWC8	HACD4_HUMAN	I	67	ENSP00000426475:V67I;ENSP00000419503:V67I	ENSP00000419503:V67I	V	-	1	0	PTPLAD2	21016666	0.005000	0.15991	0.373000	0.26003	0.012000	0.07955	-0.196000	0.09532	-0.065000	0.13021	-1.292000	0.01352	GTA		0.383	PTPLAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055434.3	NM_001010915	
ELAVL2	1993	broad.mit.edu	37	9	23705022	23705022	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr9:23705022T>A	ENST00000397312.2	-	4	655	c.381A>T	c.(379-381)ttA>ttT	p.L127F	ELAVL2_ENST00000544538.1_Missense_Mutation_p.L127F|ELAVL2_ENST00000380117.1_Missense_Mutation_p.L127F|ELAVL2_ENST00000380110.4_Missense_Mutation_p.L156F|ELAVL2_ENST00000223951.6_Missense_Mutation_p.L127F	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	127	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.L127F(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		CGCTGACATATAAATTTGCAT	0.408																																					p.L127F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A381T	9						.						112.0	109.0	110.0					9																	23705022		2203	4300	6503	23695022	SO:0001583	missense	1993	exon4			BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"""RNA binding motif (RRM) containing"""	3313	protein-coding gene	gene with protein product	"""Hu antigen B"""	601673	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"""			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.381A>T	9.37:g.23705022T>A	ENSP00000380479:p.Leu127Phe		23695022	NM_001171197	D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Missense_Mutation	SNP	ENST00000397312.2	37	CCDS6515.1	.	.	.	.	.	.	.	.	.	.	T	17.46	3.395939	0.62177	.	.	ENSG00000107105	ENST00000223951;ENST00000397312;ENST00000544538;ENST00000380110;ENST00000380117;ENST00000359598;ENST00000440102	T;T;T;T;T	0.54479	0.57;2.68;2.68;2.68;1.71	5.71	-3.0	0.05480	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.79100	0.4389	H	0.97051	3.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.995	D	0.84301	0.0505	10	0.87932	D	0	.	16.3458	0.83132	0.0:0.6346:0.0:0.3654	.	127;127	Q12926;Q12926-2	ELAV2_HUMAN;.	F	127;127;127;127;127;155;127	ENSP00000223951:L127F;ENSP00000380479:L127F;ENSP00000440998:L127F;ENSP00000369460:L127F;ENSP00000412602:L127F	ENSP00000223951:L127F	L	-	3	2	ELAVL2	23695022	0.438000	0.25602	0.971000	0.41717	0.939000	0.58152	-0.194000	0.09559	-0.734000	0.04843	-2.096000	0.00365	TTA		0.408	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	NM_004432	
C9orf72	203228	broad.mit.edu	37	9	27556742	27556742	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr9:27556742T>C	ENST00000380003.3	-	8	971	c.908A>G	c.(907-909)tAt>tGt	p.Y303C	C9orf72_ENST00000488117.1_5'UTR	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN	chromosome 9 open reading frame 72	303					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular space (GO:0005615)|lysosome (GO:0005764)|nucleus (GO:0005634)	Rab GTPase binding (GO:0017137)	p.Y303C(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		TGTGGTGGGATATGGAGCATA	0.418																																					p.Y303C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A908G	9						.						164.0	152.0	156.0					9																	27556742		2203	4300	6503	27546742	SO:0001583	missense	203228	exon8			AL832467	CCDS6522.1, CCDS6523.1	9p21.1	2014-09-17			ENSG00000147894	ENSG00000147894			28337	protein-coding gene	gene with protein product		614260				21944778, 24549040	Standard	NM_145005		Approved	MGC23980	uc003zqq.3	Q96LT7	OTTHUMG00000019716	ENST00000380003.3:c.908A>G	9.37:g.27556742T>C	ENSP00000369339:p.Tyr303Cys		27546742	NM_018325	A8K5W0|D3DRK6|G8I0B6|Q6NUS9	Missense_Mutation	SNP	ENST00000380003.3	37	CCDS6522.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.175799	0.78564	.	.	ENSG00000147894	ENST00000380003	T	0.47869	0.83	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.65207	0.2669	L	0.56769	1.78	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.64007	-0.6508	9	.	.	.	.	16.1255	0.81392	0.0:0.0:0.0:1.0	.	303	Q96LT7	CI072_HUMAN	C	303	ENSP00000369339:Y303C	.	Y	-	2	0	C9orf72	27546742	1.000000	0.71417	0.369000	0.25952	0.992000	0.81027	7.679000	0.84048	2.205000	0.71048	0.477000	0.44152	TAT		0.418	C9orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051969.1	NM_018325	
TAF1L	138474	broad.mit.edu	37	9	32635566	32635566	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr9:32635566G>A	ENST00000242310.4	-	1	101	c.12C>T	c.(10-12)ggC>ggT	p.G4G	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	4					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.G4G(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GCAAATCGCAGCCGGGTCGCA	0.542																																					p.G4G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C12T	9						.						51.0	48.0	49.0					9																	32635566		2203	4300	6503	32625566	SO:0001819	synonymous_variant	138474	exon1			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.12C>T	9.37:g.32635566G>A			32625566	NM_153809	Q0VG57	Silent	SNP	ENST00000242310.4	37	CCDS35003.1																																																																																				0.542	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2		
CHMP5	51510	broad.mit.edu	37	9	33267862	33267862	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr9:33267862G>A	ENST00000223500.8	+	3	323	c.186G>A	c.(184-186)aaG>aaA	p.K62K	CHMP5_ENST00000419016.2_Silent_p.K62K	NM_016410.5	NP_057494.3	Q9NZZ3	CHMP5_HUMAN	charged multivesicular body protein 5	62					endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of receptor recycling (GO:0001919)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.K62K(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10			LUSC - Lung squamous cell carcinoma(29;0.00506)			ATATGGTCAAGCAGAAAGCCT	0.358																																					p.K62K												.	.	2	Substitution - coding silent(2)	ovary(1)|large_intestine(1)	c.G186A	9						.						96.0	93.0	94.0					9																	33267862		2203	4300	6503	33257862	SO:0001819	synonymous_variant	51510	exon3			AF132968	CCDS6537.1, CCDS56569.1	9p13.3	2011-09-21	2011-09-21	2005-08-09	ENSG00000086065	ENSG00000086065		"""Charged multivesicular body proteins"""	26942	protein-coding gene	gene with protein product		610900	"""chromosome 9 open reading frame 83"", ""chromatin modifying protein 5"""	C9orf83, SNF7DC2		15644320, 11559748	Standard	NM_016410		Approved	HSPC177, CGI-34, Vps60	uc003zsm.4	Q9NZZ3	OTTHUMG00000019765	ENST00000223500.8:c.186G>A	9.37:g.33267862G>A			33257862	NM_001195536	B2RD95|B4DIR6|Q5VXW2|Q96AV2|Q9HB68|Q9NYS4|Q9Y323	Silent	SNP	ENST00000223500.8	37	CCDS6537.1																																																																																				0.358	CHMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052040.3	NM_016410	
MSMP	692094	broad.mit.edu	37	9	35753731	35753731	+	Silent	SNP	C	C	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr9:35753731C>A	ENST00000436428.2	-	2	304	c.165G>T	c.(163-165)ctG>ctT	p.L55L	RGP1_ENST00000378078.4_3'UTR|RP11-112J3.15_ENST00000425499.2_RNA|MSMP_ENST00000414286.1_5'UTR	NM_001044264.2	NP_001037729.1	Q1L6U9	MSMP_HUMAN	microseminoprotein, prostate associated	55						cytoplasm (GO:0005737)|extracellular space (GO:0005615)				endometrium(2)|kidney(1)|lung(3)|prostate(3)	9						AAGACTCACCCAGGGTAAAAT	0.537																																					p.L55L												.	.	0			c.G165T	9						.						41.0	42.0	42.0					9																	35753731		2025	4178	6203	35743731	SO:0001819	synonymous_variant	692094	exon2			DQ012170	CCDS43797.1	9p13.3	2012-10-02			ENSG00000215183	ENSG00000215183			29663	protein-coding gene	gene with protein product		612191				17338636	Standard	NM_001044264		Approved	PC-3, PSMP	uc003zyb.2	Q1L6U9	OTTHUMG00000019882	ENST00000436428.2:c.165G>T	9.37:g.35753731C>A			35743731	NM_001044264		Silent	SNP	ENST00000436428.2	37	CCDS43797.1																																																																																				0.537	MSMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052384.2	NM_001044264	
NPR2	4882	broad.mit.edu	37	9	35810935	35810935	+	IGR	SNP	G	G	A	rs370172827		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr9:35810935G>A	ENST00000342694.2	+	0	3686				AL133410.1_ENST00000582432.1_RNA|SPAG8_ENST00000396638.2_Silent_p.S328S|HINT2_ENST00000474908.1_5'Flank|SPAG8_ENST00000479751.1_5'UTR|SPAG8_ENST00000484764.1_Silent_p.S326S|SPAG8_ENST00000340291.2_Silent_p.S328S	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2						bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.S328S(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TCTGGGTGGTGCTGGAGGGCA	0.532																																					p.S328S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C984T	9						.	G	,	0,4406		0,0,2203	126.0	131.0	129.0		984,984	1.9	1.0	9		129	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SPAG8	NM_001039592.1,NM_172312.1	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	328/486,328/502	35810935	1,13005	2203	4300	6503	35800935	SO:0001628	intergenic_variant	26206	exon3			AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871		9.37:g.35810935G>A			35800935	NM_172312	B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Silent	SNP	ENST00000342694.2	37	CCDS6590.1	.	.	.	.	.	.	.	.	.	.	G	1.969	-0.436962	0.04636	0.0	1.16E-4	ENSG00000137098	ENST00000497810	.	.	.	5.99	1.89	0.25635	.	.	.	.	.	T	0.54240	0.1846	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44544	-0.9321	4	.	.	.	-8.8692	6.6373	0.22889	0.2403:0.1417:0.618:0.0	.	.	.	.	V	326	.	.	A	-	2	0	SPAG8	35800935	0.990000	0.36364	0.972000	0.41901	0.415000	0.31203	0.474000	0.22148	0.447000	0.26695	-0.812000	0.03155	GCA		0.532	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1		
ANKRD20A1	84210	broad.mit.edu	37	9	67968285	67968285	+	Missense_Mutation	SNP	C	C	G	rs201264629		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr9:67968285C>G	ENST00000377477.2	+	15	1956	c.1844C>G	c.(1843-1845)gCt>gGt	p.A615G	RP11-195B21.3_ENST00000417488.1_5'Flank	NM_032250.3	NP_115626.2	Q5TYW2	A20A1_HUMAN	ankyrin repeat domain 20 family, member A1	615						plasma membrane (GO:0005886)		p.A615G(1)		kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	11						AGACTGGCTGCTGCTATAAGC	0.388																																					p.A615G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1844G	9						.																																			67558105	SO:0001583	missense	441425	exon15			AL136793	CCDS6620.1	9p12	2014-04-16	2005-08-23	2005-08-23	ENSG00000196774	ENSG00000260691		"""Ankyrin repeat domain containing"""	23665	protein-coding gene	gene with protein product			"""ankyrin repeat domain 20A"""	ANKRD20A			Standard	NM_032250		Approved	DKFZp434A171		Q5TYW2	OTTHUMG00000188594	ENST00000377477.2:c.1844C>G	9.37:g.67968285C>G	ENSP00000366697:p.Ala615Gly		67558105	NM_001012419	Q9H0H6	Missense_Mutation	SNP	ENST00000377477.2	37	CCDS6620.1	.	.	.	.	.	.	.	.	.	.	.	8.954	0.968897	0.18659	.	.	ENSG00000196774	ENST00000377477	T	0.19105	2.17	1.88	1.88	0.25563	.	.	.	.	.	T	0.23370	0.0565	M	0.78456	2.415	0.09310	N	1	B	0.32409	0.37	B	0.23716	0.048	T	0.16719	-1.0393	9	0.62326	D	0.03	.	9.5031	0.39031	0.0:1.0:0.0:0.0	.	615	Q5TYW2	A20A1_HUMAN	G	615	ENSP00000366697:A615G	ENSP00000366697:A615G	A	+	2	0	ANKRD20A1	67558105	0.388000	0.25197	0.022000	0.16811	0.005000	0.04900	2.728000	0.47319	1.071000	0.40834	0.109000	0.15622	GCT		0.388	ANKRD20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083800.1		
PRUNE2	158471	broad.mit.edu	37	9	79259689	79259689	+	Silent	SNP	G	G	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr9:79259689G>T	ENST00000376718.3	-	12	8817	c.8694C>A	c.(8692-8694)gtC>gtA	p.V2898V	PRUNE2_ENST00000428286.1_Silent_p.V2540V|PRUNE2_ENST00000466266.2_5'UTR|PRUNE2_ENST00000443509.2_Silent_p.V147V|PRUNE2_ENST00000223609.6_Silent_p.V163V	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2898	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.V2898V(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AGGGCTCGATGACCTTCATGT	0.493																																					p.V2898V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C8694A	9						.						143.0	122.0	128.0					9																	79259689		1568	3582	5150	78449509	SO:0001819	synonymous_variant	158471	exon12			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.8694C>A	9.37:g.79259689G>T			78449509	NM_015225	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Silent	SNP	ENST00000376718.3	37	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.539601	0.27563	.	.	ENSG00000106772	ENST00000426088	.	.	.	6.06	1.96	0.26148	.	.	.	.	.	T	0.46718	0.1407	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34079	-0.9843	4	.	.	.	-7.5036	4.0205	0.09664	0.1908:0.1094:0.5873:0.1126	.	.	.	.	N	2220	.	.	H	-	1	0	PRUNE2	78449509	0.982000	0.34865	1.000000	0.80357	0.993000	0.82548	0.646000	0.24797	0.904000	0.36572	-0.143000	0.13931	CAT		0.493	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818	
VPS13A	23230	broad.mit.edu	37	9	79973354	79973354	+	Splice_Site	SNP	G	G	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr9:79973354G>T	ENST00000360280.3	+	57	8295	c.8035G>T	c.(8035-8037)Gca>Tca	p.A2679S	VPS13A_ENST00000357409.5_Splice_Site_p.A2679S|VPS13A_ENST00000376634.4_Splice_Site_p.A2679S|VPS13A_ENST00000376636.3_Splice_Site_p.A2640S	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2679					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)		p.A2679S(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CATGGATTCAGGTTTGTTTTT	0.299																																					p.A2640S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G7918T	9	GRCh37	CS034761	VPS13A	S		.						118.0	112.0	114.0					9																	79973354		2203	4300	6503	79163174	SO:0001630	splice_region_variant	23230	exon56			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.8035+1G>T	9.37:g.79973354G>T			79163174	NM_001018037	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.190169	0.58017	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11	5.92	5.0	0.66597	.	0.056939	0.64402	D	0.000001	T	0.82268	0.5000	L	0.45137	1.4	0.80722	D	1	B;D;D;D	0.63880	0.361;0.969;0.993;0.993	B;P;P;P	0.60609	0.295;0.659;0.877;0.877	T	0.81475	-0.0916	9	.	.	.	.	17.0341	0.86470	0.0:0.1271:0.8728:0.0	.	2640;2679;2679;2679	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	S	2679;2640;2679;2679	ENSP00000365821:A2679S;ENSP00000365823:A2640S;ENSP00000353422:A2679S;ENSP00000349985:A2679S	.	A	+	1	0	VPS13A	79163174	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.191000	0.94940	1.465000	0.48006	0.650000	0.86243	GCA		0.299	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186	Missense_Mutation
TLE4	7091	broad.mit.edu	37	9	82323594	82323594	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr9:82323594C>T	ENST00000376552.2	+	13	2174	c.1156C>T	c.(1156-1158)Ctg>Ttg	p.L386L	TLE4_ENST00000376534.4_Silent_p.L23L|TLE4_ENST00000376520.4_Silent_p.L418L|TLE4_ENST00000376544.3_Silent_p.L317L|TLE4_ENST00000376537.4_Silent_p.L418L|TLE4_ENST00000265284.6_Silent_p.L361L	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	386					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)	p.L418L(1)|p.L386L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GAACGGAGAGCTGACCAGCCC	0.592																																					p.L386L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1156T	9						.						87.0	91.0	90.0					9																	82323594		2048	4238	6286	81513414	SO:0001819	synonymous_variant	7091	exon13			M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"""WD repeat domain containing"""	11840	protein-coding gene	gene with protein product		605132	"""transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.1156C>T	9.37:g.82323594C>T			81513414	NM_007005	F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Silent	SNP	ENST00000376552.2	37	CCDS43837.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.735401	0.30774	.	.	ENSG00000106829	ENST00000496114	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	T	0.70824	0.3268	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67833	-0.5568	4	.	.	.	-14.6597	13.9788	0.64291	0.0:0.9314:0.0:0.0686	.	.	.	.	V	176	.	.	A	+	2	0	TLE4	81513414	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.338000	0.52128	2.937000	0.99478	0.650000	0.86243	GCT		0.592	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237	
DAPK1	1612	broad.mit.edu	37	9	90296478	90296478	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr9:90296478C>T	ENST00000408954.3	+	20	2496	c.2161C>T	c.(2161-2163)Ccc>Tcc	p.P721S	DAPK1_ENST00000469640.2_Missense_Mutation_p.P721S|DAPK1_ENST00000491893.1_Missense_Mutation_p.P721S|DAPK1_ENST00000358077.5_Missense_Mutation_p.P721S|DAPK1_ENST00000472284.1_Missense_Mutation_p.P721S	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	721					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.P721S(2)|p.P722S(2)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						AAGGCGTCGGCCCAGACTGTC	0.567									Chronic Lymphocytic Leukemia, Familial Clustering of																												p.P721S												.	.	4	Substitution - Missense(4)	large_intestine(2)|lung(2)	c.C2161T	9						.						52.0	55.0	54.0					9																	90296478		1926	4103	6029	89486298	SO:0001583	missense	1612	exon20	Familial Cancer Database	Familial CLL	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.2161C>T	9.37:g.90296478C>T	ENSP00000386135:p.Pro721Ser		89486298	NM_004938	B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	ENST00000408954.3	37	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	C	1.889	-0.455889	0.04540	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.63913	-0.07;-0.07;-0.06;-0.07;-0.05	5.17	5.17	0.71159	.	0.000000	0.49916	D	0.000122	T	0.48978	0.1530	N	0.25647	0.755	0.45427	D	0.998409	P;P;P	0.38729	0.58;0.644;0.58	B;B;B	0.38985	0.196;0.287;0.196	T	0.46803	-0.9165	10	0.05833	T	0.94	.	18.529	0.90984	0.0:1.0:0.0:0.0	.	721;275;721	B7ZLE7;P53355-2;P53355	.;.;DAPK1_HUMAN	S	721	ENSP00000350785:P721S;ENSP00000417076:P721S;ENSP00000418885:P721S;ENSP00000386135:P721S;ENSP00000419026:P721S	ENSP00000350785:P721S	P	+	1	0	DAPK1	89486298	1.000000	0.71417	1.000000	0.80357	0.454000	0.32378	5.813000	0.69201	2.712000	0.92718	0.556000	0.70494	CCC		0.567	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938	
SPATA31E1	286234	broad.mit.edu	37	9	90500483	90500483	+	Missense_Mutation	SNP	G	G	A	rs565943566		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr9:90500483G>A	ENST00000325643.5	+	4	1147	c.1081G>A	c.(1081-1083)Gtg>Atg	p.V361M		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	361					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.V361M(1)									CCACCCTGACGTGCAGAAGCT	0.577																																					p.V361M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1081A	9						.						65.0	65.0	65.0					9																	90500483		2203	4300	6503	89690303	SO:0001583	missense	286234	exon4			AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.1081G>A	9.37:g.90500483G>A	ENSP00000322640:p.Val361Met		89690303	NM_178828	B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	.	11.33	1.606119	0.28623	.	.	ENSG00000177992	ENST00000325643;ENST00000539327	T	0.04317	3.65	2.37	-0.844	0.10741	.	0.339158	0.21259	N	0.077517	T	0.11623	0.0283	M	0.65975	2.015	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.96	T	0.14282	-1.0478	10	0.39692	T	0.17	.	2.1482	0.03792	0.3202:0.0:0.4289:0.2509	.	361;13	Q6ZUB1;Q8NA33	CI079_HUMAN;.	M	361;13	ENSP00000322640:V361M	ENSP00000322640:V361M	V	+	1	0	C9orf79	89690303	0.027000	0.19231	0.000000	0.03702	0.002000	0.02628	1.469000	0.35343	-0.201000	0.10284	0.650000	0.86243	GTG		0.577	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828	
ROR2	4920	broad.mit.edu	37	9	94493327	94493327	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr9:94493327G>T	ENST00000375708.3	-	7	1246	c.1048C>A	c.(1048-1050)Ctg>Atg	p.L350M	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.L210M	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	350	Kringle. {ECO:0000255|PROSITE- ProRule:PRU00121}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)	p.L350M(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GTGCTGGACAGGTGGTGGCTG	0.622																																					p.L350M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1048A	9						.						59.0	61.0	60.0					9																	94493327		2203	4300	6503	93533148	SO:0001583	missense	4920	exon7			M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.1048C>A	9.37:g.94493327G>T	ENSP00000364860:p.Leu350Met		93533148	NM_004560	Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	ENST00000375708.3	37	CCDS6691.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.607864	0.46527	.	.	ENSG00000169071	ENST00000375715;ENST00000375708	T;T	0.63744	-0.06;-0.06	3.81	2.85	0.33270	Kringle (4);Kringle-like fold (1);	0.000000	0.32161	U	0.006493	T	0.69851	0.3157	L	0.51853	1.615	0.53005	D	0.999969	P;D;P	0.89917	0.774;1.0;0.624	P;D;B	0.91635	0.688;0.999;0.42	T	0.68089	-0.5501	10	0.49607	T	0.09	.	8.6179	0.33842	0.1993:0.0:0.8007:0.0	.	350;350;210	A1L4F5;Q01974;B1APY4	.;ROR2_HUMAN;.	M	210;350	ENSP00000364867:L210M;ENSP00000364860:L350M	ENSP00000364860:L350M	L	-	1	2	ROR2	93533148	1.000000	0.71417	0.931000	0.37212	0.753000	0.42808	3.743000	0.55104	0.901000	0.36495	0.561000	0.74099	CTG		0.622	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1		
ECM2	1842	broad.mit.edu	37	9	95276973	95276973	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr9:95276973C>T	ENST00000344604.5	-	4	1143	c.994G>A	c.(994-996)Gcc>Acc	p.A332T	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Missense_Mutation_p.A310T	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	332	LRRNT.				cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.A332T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						GTAAGCATGGCGTTGATGCAG	0.537																																					p.A332T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G994A	9						.						190.0	161.0	171.0					9																	95276973		2203	4300	6503	94316794	SO:0001583	missense	1842	exon4			AB011792	CCDS6698.1, CCDS56578.1	9q22.3	2008-07-21			ENSG00000106823	ENSG00000106823			3154	protein-coding gene	gene with protein product	"""matrix glycoprotein SC1/ECM2"""	603479				9790758	Standard	NM_001393		Approved		uc011lty.2	O94769	OTTHUMG00000020226	ENST00000344604.5:c.994G>A	9.37:g.95276973C>T	ENSP00000344758:p.Ala332Thr		94316794	NM_001393	B2R730|E2PU11|Q5T9F2|Q7Z3D0	Missense_Mutation	SNP	ENST00000344604.5	37	CCDS6698.1	.	.	.	.	.	.	.	.	.	.	C	6.623	0.483343	0.12581	.	.	ENSG00000106823	ENST00000444490;ENST00000344604	T;T	0.23950	1.88;5.52	4.97	2.15	0.27550	.	0.719770	0.12982	N	0.423216	T	0.23572	0.0570	M	0.61703	1.905	0.09310	N	1	B;D;B	0.54397	0.39;0.966;0.377	B;B;B	0.41332	0.022;0.354;0.071	T	0.15492	-1.0435	10	0.14656	T	0.56	.	10.2086	0.43128	0.0:0.7861:0.0:0.2139	.	332;310;310	O94769;B4DK93;O94769-2	ECM2_HUMAN;.;.	T	310;332	ENSP00000393971:A310T;ENSP00000344758:A332T	ENSP00000344758:A332T	A	-	1	0	ECM2	94316794	0.016000	0.18221	0.000000	0.03702	0.027000	0.11550	1.760000	0.38430	0.261000	0.21753	-0.768000	0.03414	GCC		0.537	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053091.1	NM_001393	
EHMT1	79813	broad.mit.edu	37	9	140648628	140648628	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chr9:140648628G>A	ENST00000460843.1	+	8	1281	c.1254G>A	c.(1252-1254)tcG>tcA	p.S418S	EHMT1_ENST00000334856.6_Silent_p.S387S|EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Silent_p.S418S	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	418					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)	p.S387S(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		TCCAGAGTTCGGAATCCAGCA	0.468																																					p.S418S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1254A	9						.						85.0	88.0	87.0					9																	140648628		2203	4300	6503	139768449	SO:0001819	synonymous_variant	79813	exon8			AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.1254G>A	9.37:g.140648628G>A			139768449	NM_024757	B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Silent	SNP	ENST00000460843.1	37	CCDS7050.2																																																																																				0.468	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757	
TENM1	10178	broad.mit.edu	37	X	123556426	123556427	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chrX:123556426_123556427insA	ENST00000371130.3	-	23	4208_4209	c.4145_4146insT	c.(4144-4146)ttgfs	p.L1382fs	STAG2_ENST00000469481.1_3'UTR|TENM1_ENST00000422452.2_Frame_Shift_Ins_p.L1389fs	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1382					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.L1384fs*3(1)									TGTTGTTATCCAAGACATACAA	0.47																																					p.L1388fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.4164_4165insT	X						.																																			123384108	SO:0001589	frameshift_variant	10178	exon24			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.4146dupT	X.37:g.123556428_123556428dupA	ENSP00000360171:p.Leu1382fs		123384107	NM_001163279	B2RTR5|Q5JZ17	Frame_Shift_Ins	INS	ENST00000371130.3	37	CCDS14609.1																																																																																				0.470	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253	
NRK	203447	broad.mit.edu	37	X	105193633	105193633	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chrX:105193633C>T	ENST00000243300.9	+	27	4723	c.4420C>T	c.(4420-4422)Ctc>Ttc	p.L1474F	NRK_ENST00000540278.1_Missense_Mutation_p.L55F|NRK_ENST00000428173.2_Missense_Mutation_p.L1475F	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1474	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.L1475F(1)|p.L1474F(1)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TGGCATGATGCTCACCTTCAA	0.378										HNSCC(51;0.14)																											p.L1474F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C4420T	X						.						103.0	93.0	96.0					X																	105193633		1890	4106	5996	105080289	SO:0001583	missense	203447	exon27			BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.4420C>T	X.37:g.105193633C>T	ENSP00000434830:p.Leu1474Phe		105080289	NM_198465	Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37		.	.	.	.	.	.	.	.	.	.	C	17.94	3.510598	0.64522	.	.	ENSG00000123572	ENST00000243300;ENST00000428173;ENST00000540278	T;T;T	0.11930	2.73;2.73;2.73	5.96	5.08	0.68730	Citron-like (2);	0.187926	0.26297	N	0.025191	T	0.32734	0.0839	M	0.68952	2.095	0.48632	D	0.999685	D;D	0.58620	0.978;0.983	P;D	0.63283	0.767;0.913	T	0.03795	-1.1003	10	0.87932	D	0	.	12.7182	0.57127	0.1641:0.8359:0.0:0.0	.	55;1474	B7Z1I7;Q7Z2Y5	.;NRK_HUMAN	F	1474;1475;55	ENSP00000434830:L1474F;ENSP00000438378:L1475F;ENSP00000438148:L55F	ENSP00000434830:L1474F	L	+	1	0	NRK	105080289	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	2.811000	0.47986	1.208000	0.43306	0.600000	0.82982	CTC		0.378	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465	
NCBP2L	392517	broad.mit.edu	37	X	107018482	107018482	+	5'Flank	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chrX:107018482G>A	ENST00000509000.2	+	0	0				TSC22D3_ENST00000506081.1_Silent_p.V56V|TSC22D3_ENST00000372384.2_Silent_p.V56V|TSC22D3_ENST00000315660.4_Silent_p.V56V|TSC22D3_ENST00000514426.1_5'UTR|TSC22D3_ENST00000372383.4_Silent_p.V56V			A6PVI3	NCB2L_HUMAN	nuclear cap binding protein subunit 2-like						mRNA cis splicing, via spliceosome (GO:0045292)	nuclear cap binding complex (GO:0005846)	nucleotide binding (GO:0000166)|RNA cap binding (GO:0000339)	p.V56V(1)		large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	5						GGTTCTCAAAGACCAGCTTTT	0.592																																					p.V56V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C168T	X						.						112.0	89.0	97.0					X																	107018482		2203	4300	6503	106905138	SO:0001631	upstream_gene_variant	1831	exon1					Xq22.3	2013-02-12			ENSG00000170935	ENSG00000170935		"""RNA binding motif (RRM) containing"""	31795	protein-coding gene	gene with protein product							Standard	NG_011409		Approved			A6PVI3	OTTHUMG00000022169		X.37:g.107018482G>A	Exception_encountered		106905138	NM_198057		Silent	SNP	ENST00000509000.2	37																																																																																					0.592	NCBP2L-001	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000057850.2	XM_373362	
COL4A5	1287	broad.mit.edu	37	X	107834378	107834378	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chrX:107834378C>A	ENST00000361603.2	+	20	1500	c.1256C>A	c.(1255-1257)cCt>cAt	p.P419H	COL4A5_ENST00000328300.6_Missense_Mutation_p.P419H	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	419	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)	p.P419H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						ATTTCCATTCCTGGACCTCCT	0.557									Alport syndrome with Diffuse Leiomyomatosis																												p.P419H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1256A	X						.						76.0	77.0	77.0					X																	107834378		2203	4300	6503	107721034	SO:0001583	missense	1287	exon20	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.1256C>A	X.37:g.107834378C>A	ENSP00000354505:p.Pro419His		107721034	NM_000495	Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	c	15.38	2.816197	0.50527	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.93811	-3.29;-3.29	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.97250	0.9101	M	0.92317	3.295	0.58432	D	0.999993	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.79784	0.975;0.993;0.975	D	0.96933	0.9682	10	0.19147	T	0.46	.	18.0391	0.89314	0.0:1.0:0.0:0.0	.	419;27;419	E7EVY4;Q49AM6;P29400	.;.;CO4A5_HUMAN	H	419	ENSP00000331902:P419H;ENSP00000354505:P419H	ENSP00000331902:P419H	P	+	2	0	COL4A5	107721034	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.486000	0.66856	2.196000	0.70406	0.540000	0.68198	CCT		0.557	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2		
COL4A5	1287	broad.mit.edu	37	X	107936122	107936122	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chrX:107936122T>C	ENST00000361603.2	+	48	4899	c.4655T>C	c.(4654-4656)cTa>cCa	p.L1552P	COL4A5_ENST00000328300.6_Missense_Mutation_p.L1558P	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1552	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)	p.L1552P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						ATGCAACCCCTAAAGGGCCAG	0.438									Alport syndrome with Diffuse Leiomyomatosis																												p.X1554Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4660C	X						.						91.0	82.0	85.0					X																	107936122		2203	4300	6503	107822778	SO:0001583	missense	1287	exon48	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.4655T>C	X.37:g.107936122T>C	ENSP00000354505:p.Leu1552Pro		107822778	NM_033380	Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.430460	0.83776	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186;ENST00000504541	D;D;D	0.88124	-2.34;-2.34;-2.34	5.82	5.82	0.92795	C-type lectin fold (1);	0.171647	0.41194	D	0.000929	D	0.93009	0.7775	M	0.74258	2.255	0.80722	D	1	D;D	0.64830	0.994;0.994	D;D	0.79108	0.992;0.992	D	0.93744	0.7053	10	0.87932	D	0	.	15.1638	0.72803	0.0:0.0:0.0:1.0	.	1555;1552	E7EVY4;P29400	.;CO4A5_HUMAN	P	1558;1552;1558;24	ENSP00000331902:L1558P;ENSP00000354505:L1552P;ENSP00000424845:L24P	ENSP00000331902:L1558P	L	+	2	0	COL4A5	107822778	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.040000	0.89188	1.964000	0.57103	0.481000	0.45027	CTA		0.438	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2		
COL4A5	1287	broad.mit.edu	37	X	107938567	107938567	+	Missense_Mutation	SNP	G	G	A	rs372369187		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chrX:107938567G>A	ENST00000361603.2	+	50	5118	c.4874G>A	c.(4873-4875)cGt>cAt	p.R1625H	COL4A5_ENST00000328300.6_Missense_Mutation_p.R1631H	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1625	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.		Missing (in APSX). {ECO:0000269|PubMed:7853788}.		axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)	p.R1625H(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GAAGAGTTTCGTTCAGCTCCC	0.498									Alport syndrome with Diffuse Leiomyomatosis																												p.R1625H												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G4874A	X						.	G	HIS/ARG,HIS/ARG	0,3835		0,0,0,1632,571	174.0	151.0	159.0		4874,4892	5.4	1.0	X		159	1,6727		0,0,1,2428,1871	no	missense,missense	COL4A5	NM_000495.3,NM_033380.1	29,29	0,0,1,4060,2442	AA,AG,A,GG,G		0.0149,0.0,0.0095	probably-damaging,probably-damaging	1625/1686,1631/1692	107938567	1,10562	2203	4300	6503	107825223	SO:0001583	missense	1287	exon50	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.4874G>A	X.37:g.107938567G>A	ENSP00000354505:p.Arg1625His		107825223	NM_000495	Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	G	33	5.247977	0.95305	0.0	1.49E-4	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.94862	-3.54;-3.54	5.43	5.43	0.79202	C-type lectin fold (1);	0.000000	0.85682	D	0.000000	D	0.97904	0.9311	M	0.91300	3.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98934	1.0788	10	0.87932	D	0	.	18.3588	0.90368	0.0:0.0:1.0:0.0	.	1628;1625	E7EVY4;P29400	.;CO4A5_HUMAN	H	1631;1625;1631	ENSP00000331902:R1631H;ENSP00000354505:R1625H	ENSP00000331902:R1631H	R	+	2	0	COL4A5	107825223	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.275000	0.75901	0.594000	0.82650	CGT		0.498	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2		
IRS4	8471	broad.mit.edu	37	X	107977575	107977575	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chrX:107977575C>T	ENST00000372129.2	-	1	2076	c.2000G>A	c.(1999-2001)tGc>tAc	p.C667Y	RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.3_ENST00000436013.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	667					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)	p.C667Y(1)		NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GGCTTCTTTGCATTCTTTCGT	0.507																																					p.C667Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2000A	X						.						278.0	279.0	278.0					X																	107977575		2203	4300	6503	107864231	SO:0001583	missense	8471	exon1			AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.2000G>A	X.37:g.107977575C>T	ENSP00000361202:p.Cys667Tyr		107864231	NM_003604		Missense_Mutation	SNP	ENST00000372129.2	37	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	C	0.141	-1.101770	0.01828	.	.	ENSG00000133124	ENST00000372129	T	0.34667	1.35	4.9	2.06	0.26882	.	0.449819	0.20512	N	0.090863	T	0.14056	0.0340	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.11421	-1.0588	10	0.33940	T	0.23	-4.5507	0.792	0.01059	0.3126:0.3491:0.1352:0.203	.	667	O14654	IRS4_HUMAN	Y	667	ENSP00000361202:C667Y	ENSP00000361202:C667Y	C	-	2	0	IRS4	107864231	0.560000	0.26570	0.996000	0.52242	0.036000	0.12997	1.328000	0.33758	0.493000	0.27837	-0.191000	0.12829	TGC		0.507	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604	
ACTRT1	139741	broad.mit.edu	37	X	127186117	127186117	+	Silent	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chrX:127186117T>C	ENST00000371124.3	-	1	265	c.69A>G	c.(67-69)gcA>gcG	p.A23A		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	23						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.A23A(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						CAGACAGGCCTGCTTTGCAGA	0.443																																					p.A23A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A69G	X						.						59.0	53.0	55.0					X																	127186117		2203	4299	6502	127013798	SO:0001819	synonymous_variant	139741	exon1			AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.69A>G	X.37:g.127186117T>C			127013798	NM_138289	Q6X7C1|Q96L10	Silent	SNP	ENST00000371124.3	37	CCDS14611.1																																																																																				0.443	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	NM_138289	
BCORL1	63035	broad.mit.edu	37	X	129147017	129147017	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chrX:129147017A>G	ENST00000218147.7	+	4	466	c.269A>G	c.(268-270)gAc>gGc	p.D90G	BCORL1_ENST00000303743.5_Missense_Mutation_p.D90G|BCORL1_ENST00000359304.2_Missense_Mutation_p.D90G|BCORL1_ENST00000540052.1_Missense_Mutation_p.D90G			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	90					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.D90G(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						AAGTCAGAAGACAAGCCTGAC	0.597																																					p.D90G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A269G	X						.						53.0	51.0	52.0					X																	129147017		2203	4298	6501	128974698	SO:0001583	missense	63035	exon3			AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.269A>G	X.37:g.129147017A>G	ENSP00000218147:p.Asp90Gly		128974698	NM_021946	B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	A	15.79	2.936755	0.52972	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052	T;T;T;T	0.46451	0.88;1.25;0.87;0.88	5.28	5.28	0.74379	.	0.208599	0.23698	N	0.045457	T	0.26846	0.0657	N	0.14661	0.345	0.37928	D	0.9319	B	0.17667	0.023	B	0.20955	0.032	T	0.14587	-1.0467	10	0.14252	T	0.57	-5.0525	14.3404	0.66622	1.0:0.0:0.0:0.0	.	90	Q5H9F3	BCORL_HUMAN	G	90	ENSP00000218147:D90G;ENSP00000307541:D90G;ENSP00000352253:D90G;ENSP00000437775:D90G	ENSP00000218147:D90G	D	+	2	0	BCORL1	128974698	1.000000	0.71417	0.931000	0.37212	0.934000	0.57294	6.125000	0.71627	1.765000	0.52091	0.430000	0.28490	GAC		0.597	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946	
ARHGAP36	158763	broad.mit.edu	37	X	130217828	130217828	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chrX:130217828C>T	ENST00000276211.5	+	4	785	c.440C>T	c.(439-441)gCg>gTg	p.A147V	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.A11V|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.A135V	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	147					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.A147V(2)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GGTCAGGCTGCGGGCCGTCGT	0.612																																					p.A147V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C440T	X						.						101.0	98.0	99.0					X																	130217828		2203	4300	6503	130045509	SO:0001583	missense	158763	exon4				CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.440C>T	X.37:g.130217828C>T	ENSP00000276211:p.Ala147Val		130045509	NM_144967	B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	C	3.167	-0.170901	0.06421	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000423277;ENST00000412432;ENST00000370921	T;T;T;T	0.10668	2.9;2.91;2.91;2.85	4.3	0.475	0.16774	.	3.347820	0.01163	N	0.006684	T	0.05502	0.0145	N	0.08118	0	0.09310	N	1	B;B;B	0.17268	0.021;0.021;0.005	B;B;B	0.13407	0.009;0.009;0.003	T	0.30357	-0.9981	10	0.30854	T	0.27	.	0.7601	0.01005	0.1749:0.3706:0.2223:0.2321	.	116;135;147	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	V	147;135;99;116;11	ENSP00000276211:A147V;ENSP00000359960:A135V;ENSP00000408515:A116V;ENSP00000359959:A11V	ENSP00000276211:A147V	A	+	2	0	ARHGAP36	130045509	0.000000	0.05858	0.002000	0.10522	0.037000	0.13140	-0.425000	0.07017	-0.052000	0.13311	0.600000	0.82982	GCG		0.612	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967	
GPR112	139378	broad.mit.edu	37	X	135431480	135431480	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chrX:135431480C>G	ENST00000394143.1	+	6	5906	c.5615C>G	c.(5614-5616)tCt>tGt	p.S1872C	GPR112_ENST00000370652.1_Missense_Mutation_p.S1872C|GPR112_ENST00000394141.1_Missense_Mutation_p.S1667C|GPR112_ENST00000412101.1_Missense_Mutation_p.S1667C|GPR112_ENST00000287534.4_Missense_Mutation_p.S1809C	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1872					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S1872C(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AGAATGACATCTAGTAATACC	0.433																																					p.S1872C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5615G	X						.						120.0	113.0	115.0					X																	135431480		2203	4300	6503	135259146	SO:0001583	missense	139378	exon6			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.5615C>G	X.37:g.135431480C>G	ENSP00000377699:p.Ser1872Cys		135259146	NM_153834	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	c	13.76	2.331989	0.41297	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.35236	1.36;1.36;1.32;1.46;1.32	3.78	2.88	0.33553	.	.	.	.	.	T	0.39655	0.1086	L	0.27053	0.805	0.09310	N	1	D;D;D	0.76494	0.999;0.998;0.997	D;P;P	0.64237	0.923;0.865;0.737	T	0.10965	-1.0607	9	0.72032	D	0.01	.	5.9807	0.19405	0.0:0.85:0.0:0.15	.	1809;1667;1872	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	C	1872;1872;1667;1809;1667	ENSP00000377699:S1872C;ENSP00000359686:S1872C;ENSP00000416526:S1667C;ENSP00000287534:S1809C;ENSP00000377697:S1667C	ENSP00000287534:S1809C	S	+	2	0	GPR112	135259146	0.928000	0.31464	0.733000	0.30861	0.828000	0.46876	2.229000	0.42990	1.655000	0.50712	0.530000	0.56133	TCT		0.433	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1		
GPR112	139378	broad.mit.edu	37	X	135482096	135482096	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chrX:135482096G>C	ENST00000394143.1	+	21	8687	c.8396G>C	c.(8395-8397)tGg>tCg	p.W2799S	GPR112_ENST00000370652.1_Missense_Mutation_p.W2799S|GPR112_ENST00000394141.1_Missense_Mutation_p.W2594S|GPR112_ENST00000412101.1_Missense_Mutation_p.W2594S|GPR112_ENST00000287534.4_Missense_Mutation_p.W2552S	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2799					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.W2799S(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATCAATTCTTGGTTGTCATCA	0.413																																					p.W2799S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G8396C	X						.						188.0	160.0	169.0					X																	135482096		2203	4300	6503	135309762	SO:0001583	missense	139378	exon21			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.8396G>C	X.37:g.135482096G>C	ENSP00000377699:p.Trp2799Ser		135309762	NM_153834	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.021312	0.75275	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	5.1	5.1	0.69264	GPCR, family 2-like (1);	.	.	.	.	T	0.64382	0.2593	M	0.65677	2.01	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.992;0.999	T	0.68443	-0.5407	9	0.87932	D	0	.	17.5359	0.87830	0.0:0.0:1.0:0.0	.	2594;2799	Q8IZF6-3;Q8IZF6	.;GP112_HUMAN	S	2799;2799;2594;2552;2594	ENSP00000377699:W2799S;ENSP00000359686:W2799S;ENSP00000416526:W2594S;ENSP00000287534:W2552S;ENSP00000377697:W2594S	ENSP00000287534:W2552S	W	+	2	0	GPR112	135309762	1.000000	0.71417	0.986000	0.45419	0.989000	0.77384	6.311000	0.72835	2.255000	0.74692	0.544000	0.68410	TGG		0.413	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1		
VGLL1	51442	broad.mit.edu	37	X	135630883	135630883	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chrX:135630883C>T	ENST00000370634.3	+	3	520	c.350C>T	c.(349-351)cCg>cTg	p.P117L	MIR934_ENST00000401241.1_RNA	NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN	vestigial-like family member 1	117					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.P117L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					CAGTTCTCACCGTCCCTGGCT	0.587																																					p.P117L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C350T	X						.						255.0	204.0	221.0					X																	135630883		2203	4300	6503	135458549	SO:0001583	missense	51442	exon3			AF137387	CCDS14658.1	Xq26.3	2014-03-03	2014-03-03		ENSG00000102243	ENSG00000102243			20985	protein-coding gene	gene with protein product		300583	"""vestigial like 1 (Drosophila)"""			10518497	Standard	NM_016267		Approved	TONDU, TDU	uc004ezy.3	Q99990	OTTHUMG00000022509	ENST00000370634.3:c.350C>T	X.37:g.135630883C>T	ENSP00000359668:p.Pro117Leu		135458549	NM_016267	Q5H915	Missense_Mutation	SNP	ENST00000370634.3	37	CCDS14658.1	.	.	.	.	.	.	.	.	.	.	C	0.504	-0.869780	0.02570	.	.	ENSG00000102243	ENST00000370634	T	0.50548	0.74	5.81	-5.26	0.02772	.	1.387220	0.04111	N	0.314671	T	0.15998	0.0385	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.07443	-1.0772	10	0.27785	T	0.31	1.9921	1.9115	0.03288	0.1266:0.3436:0.2343:0.2955	.	117	Q99990	VGLL1_HUMAN	L	117	ENSP00000359668:P117L	ENSP00000359668:P117L	P	+	2	0	VGLL1	135458549	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.432000	0.06956	-0.613000	0.05694	-0.318000	0.08688	CCG		0.587	VGLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058493.1	NM_016267	
TCEANC	170082	broad.mit.edu	37	X	13681614	13681614	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chrX:13681614A>T	ENST00000380600.1	+	2	1074	c.987A>T	c.(985-987)caA>caT	p.Q329H	TCEANC_ENST00000545566.1_Missense_Mutation_p.Q329H|TCEANC_ENST00000314720.4_Missense_Mutation_p.Q359H|TCEANC_ENST00000490617.1_3'UTR|TCEANC_ENST00000544987.1_Missense_Mutation_p.Q329H			Q8N8B7	TEANC_HUMAN	transcription elongation factor A (SII) N-terminal and central domain containing	329					regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.Q329H(2)		central_nervous_system(1)|large_intestine(5)|lung(2)|pancreas(1)	9						CAGATGAACAAATGATGACTT	0.428																																					p.Q359H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1077T	X						.						57.0	47.0	50.0					X																	13681614		1951	4097	6048	13591535	SO:0001583	missense	170082	exon4				CCDS48081.1, CCDS75954.1	Xp22.2	2009-01-30			ENSG00000176896	ENSG00000176896			28277	protein-coding gene	gene with protein product						12477932	Standard	XM_005274454		Approved	MGC17403	uc010neg.1	Q8N8B7	OTTHUMG00000021154	ENST00000380600.1:c.987A>T	X.37:g.13681614A>T	ENSP00000369974:p.Gln329His		13591535	NM_152634	A6NI06|B2RDM3	Missense_Mutation	SNP	ENST00000380600.1	37		.	.	.	.	.	.	.	.	.	.	A	16.78	3.216492	0.58452	.	.	ENSG00000176896	ENST00000545566;ENST00000544987;ENST00000314720;ENST00000380600	T;T;T;T	0.47528	0.86;0.86;0.84;0.86	5.04	-1.77	0.07982	.	0.784990	0.11368	N	0.571197	T	0.48840	0.1522	L	0.40543	1.245	0.35319	D	0.784613	D;P	0.57571	0.98;0.938	P;P	0.58873	0.847;0.62	T	0.56944	-0.7895	10	0.87932	D	0	-6.8278	6.213	0.20640	0.486:0.1357:0.3783:0.0	.	359;329	Q8N8B7-2;Q8N8B7	.;TEANC_HUMAN	H	329;329;359;329	ENSP00000438952:Q329H;ENSP00000440038:Q329H;ENSP00000313886:Q359H;ENSP00000369974:Q329H	ENSP00000313886:Q359H	Q	+	3	2	TCEANC	13591535	0.977000	0.34250	0.838000	0.33150	0.997000	0.91878	0.096000	0.15147	-0.779000	0.04560	0.486000	0.48141	CAA		0.428	TCEANC-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000055796.1	NM_152634	
ARHGEF6	9459	broad.mit.edu	37	X	135750192	135750192	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chrX:135750192G>A	ENST00000250617.6	-	22	3532	c.2327C>T	c.(2326-2328)cCa>cTa	p.P776L	ARHGEF6_ENST00000370620.1_Missense_Mutation_p.P622L|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.P649L|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.P622L	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	776					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P776L(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					TGATGGTTATGGAAGAATTGA	0.473																																					p.P776L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2327T	X						.						206.0	166.0	179.0					X																	135750192		2203	4300	6503	135577858	SO:0001583	missense	9459	exon22			D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	685	protein-coding gene	gene with protein product	"""Rac/Cdc42 guanine exchange factor (GEF) 6"", ""PAK-interacting exchange factor, alpha"", ""rho guanine nucleotide exchange factor 6"""	300267	"""mental retardation, X-linked 46"""	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.2327C>T	X.37:g.135750192G>A	ENSP00000250617:p.Pro776Leu		135577858	NM_004840	A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Missense_Mutation	SNP	ENST00000250617.6	37	CCDS14660.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.722092	0.68959	.	.	ENSG00000129675	ENST00000250617;ENST00000370620;ENST00000370622;ENST00000535736;ENST00000535227	T;T;T;T	0.54279	0.59;0.7;0.7;0.58	5.34	4.45	0.53987	.	0.313274	0.31134	N	0.008182	T	0.33089	0.0851	N	0.08118	0	0.35625	D	0.809738	B;B	0.20052	0.041;0.041	B;B	0.16722	0.016;0.01	T	0.35724	-0.9777	10	0.87932	D	0	.	11.6128	0.51072	0.0:0.0:0.8176:0.1824	.	649;776	B7Z3C7;Q15052	.;ARHG6_HUMAN	L	776;622;622;622;649	ENSP00000250617:P776L;ENSP00000359654:P622L;ENSP00000359656:P622L;ENSP00000439483:P649L	ENSP00000250617:P776L	P	-	2	0	ARHGEF6	135577858	0.990000	0.36364	1.000000	0.80357	0.708000	0.40852	2.365000	0.44196	0.969000	0.38237	0.513000	0.50165	CCA		0.473	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058511.2	NM_004840	
GLRA2	2742	broad.mit.edu	37	X	14748595	14748595	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chrX:14748595C>T	ENST00000218075.4	+	9	1877	c.1347C>T	c.(1345-1347)gtC>gtT	p.V449V	GLRA2_ENST00000443437.2_Silent_p.V360V|GLRA2_ENST00000355020.4_Silent_p.V449V	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	449					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)|synapse assembly (GO:0007416)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)	p.V449V(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)|Lindane(DB00431)	ATGAAGATGTCCACAAGAAAT	0.423																																					p.V449V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1347T	X						.						141.0	112.0	121.0					X																	14748595		2203	4300	6503	14658516	SO:0001819	synonymous_variant	2742	exon10				CCDS14160.1, CCDS48085.1, CCDS55371.1	Xp22.2	2012-02-07			ENSG00000101958	ENSG00000101958		"""Ligand-gated ion channels / Glycine receptors"""	4327	protein-coding gene	gene with protein product		305990		GLR			Standard	NM_002063		Approved		uc010nep.3	P23416	OTTHUMG00000021166	ENST00000218075.4:c.1347C>T	X.37:g.14748595C>T			14658516	NM_001118885	A8K0J6|B2R6I8|B7Z4F5|J3KQ59|Q53YX7|Q6ICQ0|Q99862	Silent	SNP	ENST00000218075.4	37	CCDS14160.1																																																																																				0.423	GLRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055829.1		
CXorf66	347487	broad.mit.edu	37	X	139038495	139038495	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chrX:139038495G>A	ENST00000370540.1	-	3	669	c.646C>T	c.(646-648)Ctt>Ttt	p.L216F		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	216						integral component of membrane (GO:0016021)		p.L216F(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						GATGAATAAAGTGGCTTGAAT	0.423																																					p.L216F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C646T	X						.						157.0	141.0	146.0					X																	139038495		2203	4300	6503	138866161	SO:0001583	missense	347487	exon3				CCDS35411.1	Xq27.1	2014-05-30			ENSG00000203933	ENSG00000203933			33743	protein-coding gene	gene with protein product	"""secreted glycoprotein, X-linked"""					24709545	Standard	NM_001013403		Approved	RP11-35F15.2, SGPX	uc004fbb.3	Q5JRM2	OTTHUMG00000022539	ENST00000370540.1:c.646C>T	X.37:g.139038495G>A	ENSP00000359571:p.Leu216Phe		138866161	NM_001013403		Missense_Mutation	SNP	ENST00000370540.1	37	CCDS35411.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.497095	0.26861	.	.	ENSG00000203933	ENST00000370540	T	0.52295	0.67	2.95	-2.56	0.06268	.	2.908340	0.01336	N	0.011394	T	0.26882	0.0658	N	0.19112	0.55	0.09310	N	1	P	0.39003	0.654	B	0.35353	0.201	T	0.04551	-1.0943	9	.	.	.	5.0978	0.567	0.00689	0.3891:0.1757:0.2552:0.1799	.	216	Q5JRM2	CX066_HUMAN	F	216	ENSP00000359571:L216F	.	L	-	1	0	CXorf66	138866161	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.984000	0.03755	-0.888000	0.03956	-0.247000	0.11927	CTT		0.423	CXorf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058572.1	NM_001013403	
GABRA3	2556	broad.mit.edu	37	X	151532943	151532943	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chrX:151532943G>A	ENST00000370314.4	-	2	338	c.100C>T	c.(100-102)Cga>Tga	p.R34*	GABRA3_ENST00000535043.1_Nonsense_Mutation_p.R34*	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	34					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.R34*(2)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	GGTTCTTGTCGTCTTGATTCC	0.448																																					p.R34X	NSCLC(142;2578 2613 10251 16743)											.	.	2	Substitution - Nonsense(2)	large_intestine(1)|endometrium(1)	c.C100T	X						.						178.0	168.0	171.0					X																	151532943		2203	4300	6503	151283599	SO:0001587	stop_gained	2556	exon2				CCDS14706.1	Xq28	2012-06-22			ENSG00000011677	ENSG00000011677		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4077	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 3"""	305660					Standard	NM_000808		Approved		uc010ntk.1	P34903	OTTHUMG00000024183	ENST00000370314.4:c.100C>T	X.37:g.151532943G>A	ENSP00000359337:p.Arg34*		151283599	NM_000808	Q8TAF9	Nonsense_Mutation	SNP	ENST00000370314.4	37	CCDS14706.1	.	.	.	.	.	.	.	.	.	.	G	38	7.008745	0.97998	.	.	ENSG00000011677	ENST00000370314;ENST00000370311;ENST00000535043	.	.	.	5.01	4.12	0.48240	.	2.366800	0.01730	N	0.028823	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	9.7046	0.40207	0.0:0.0:0.793:0.2069	.	.	.	.	X	34	.	ENSP00000359334:R34X	R	-	1	2	GABRA3	151283599	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.932000	0.40143	0.840000	0.34995	0.600000	0.82982	CGA		0.448	GABRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060921.1	NM_000808	
STS	412	broad.mit.edu	37	X	7177635	7177635	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chrX:7177635G>A	ENST00000217961.4	+	5	863	c.643G>A	c.(643-645)Gtt>Att	p.V215I		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	215					cellular protein metabolic process (GO:0044267)|epidermis development (GO:0008544)|female pregnancy (GO:0007565)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|steroid catabolic process (GO:0006706)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|steryl-sulfatase activity (GO:0004773)|sulfuric ester hydrolase activity (GO:0008484)	p.V215I(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Norelgestromin(DB06713)	GCCTCTAGGCGTTTTTTTCAG	0.537									Ichthyosis																												p.V215I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G643A	X						.						104.0	79.0	88.0					X																	7177635		2203	4299	6502	7187635	SO:0001583	missense	412	exon5	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	M16505	CCDS14127.1	Xp22.32	2013-06-10	2007-07-19		ENSG00000101846	ENSG00000101846	3.1.6.2	"""Arylsulfatase family"""	11425	protein-coding gene	gene with protein product	"""arylsulfatase C"""	300747	"""steroid sulfatase (microsomal), arylsulfatase C, isozyme S"""	ARSC1			Standard	NM_000351		Approved	ARSC	uc004cry.4	P08842	OTTHUMG00000021102	ENST00000217961.4:c.643G>A	X.37:g.7177635G>A	ENSP00000217961:p.Val215Ile		7187635	NM_000351	B2RA47	Missense_Mutation	SNP	ENST00000217961.4	37	CCDS14127.1	.	.	.	.	.	.	.	.	.	.	G	3.664	-0.068945	0.07228	.	.	ENSG00000101846	ENST00000217961	D	0.93659	-3.26	3.96	-3.08	0.05347	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	1.168980	0.06395	N	0.717679	D	0.88202	0.6373	L	0.48642	1.525	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.71062	-0.4701	10	0.16896	T	0.51	.	7.4001	0.26958	0.3668:0.0:0.5293:0.1039	.	215	P08842	STS_HUMAN	I	215	ENSP00000217961:V215I	ENSP00000217961:V215I	V	+	1	0	STS	7187635	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.259000	0.02861	-1.608000	0.01587	-2.103000	0.00360	GTT		0.537	STS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055686.1	NM_000351	
SCML2	10389	broad.mit.edu	37	X	18342199	18342199	+	Silent	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chrX:18342199A>G	ENST00000251900.4	-	5	336	c.177T>C	c.(175-177)ccT>ccC	p.P59P		NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	59					anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P59P(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					AATCATTCACAGGTGGAATCT	0.393																																					p.P59P	Esophageal Squamous(100;1252 1965 19021 35517)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T177C	X						.						33.0	30.0	31.0					X																	18342199		2203	4300	6503	18252120	SO:0001819	synonymous_variant	10389	exon5			Y18004	CCDS14185.1	Xp22	2013-01-10	2001-11-28		ENSG00000102098	ENSG00000102098		"""Sterile alpha motif (SAM) domain containing"""	10581	protein-coding gene	gene with protein product		300208	"""sex comb on midleg (Drosophila)-like 2"""			10331946	Standard	NM_006089		Approved		uc004cyl.2	Q9UQR0	OTTHUMG00000021212	ENST00000251900.4:c.177T>C	X.37:g.18342199A>G			18252120	NM_006089	Q5JXE6|Q86U98|Q8IWD0|Q8NDP2|Q9UGC5	Silent	SNP	ENST00000251900.4	37	CCDS14185.1																																																																																				0.393	SCML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055941.1	NM_006089	
PDHA1	5160	broad.mit.edu	37	X	19371229	19371229	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chrX:19371229G>T	ENST00000422285.2	+	5	553	c.448G>T	c.(448-450)Gga>Tga	p.G150*	PDHA1_ENST00000545074.1_Nonsense_Mutation_p.G157*|PDHA1_ENST00000540249.1_Nonsense_Mutation_p.G150*|PDHA1_ENST00000379806.5_Nonsense_Mutation_p.G188*|PDHA1_ENST00000379805.3_Nonsense_Mutation_p.G150*|PDHA1_ENST00000379804.1_5'Flank			P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	150					acetyl-CoA biosynthetic process from pyruvate (GO:0006086)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pyruvate dehydrogenase complex (GO:0045254)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)|pyruvate dehydrogenase activity (GO:0004738)	p.G150*(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)					TAAAGGGAAAGGAGGATCGAT	0.488																																					p.G188X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G562T	X						.						241.0	183.0	203.0					X																	19371229		2203	4300	6503	19281150	SO:0001587	stop_gained	5160	exon6				CCDS14192.1, CCDS55380.1, CCDS55381.1, CCDS55382.1	Xp22.1	2008-02-05			ENSG00000131828	ENSG00000131828	1.2.4.1		8806	protein-coding gene	gene with protein product		300502		PDHA			Standard	NM_001173454		Approved		uc004czh.4	P08559	OTTHUMG00000021224	ENST00000422285.2:c.448G>T	X.37:g.19371229G>T	ENSP00000394382:p.Gly150*		19281150	NM_001173454	A5YVE9|B2R5P7|B7Z3T7|B7Z3X5|Q53H41|Q5JPT8|Q9NP12|Q9UBJ8|Q9UBU0|Q9UNG4|Q9UNG5	Nonsense_Mutation	SNP	ENST00000422285.2	37	CCDS14192.1	.	.	.	.	.	.	.	.	.	.	G	36	5.914206	0.97099	.	.	ENSG00000131828	ENST00000379806;ENST00000545074;ENST00000540249;ENST00000423505;ENST00000422285;ENST00000355808;ENST00000379805	.	.	.	5.53	4.66	0.58398	.	0.048259	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-0.2943	13.5872	0.61937	0.0768:0.0:0.9232:0.0	.	.	.	.	X	188;157;150;188;150;157;150	.	ENSP00000348062:G157X	G	+	1	0	PDHA1	19281150	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.420000	0.97426	1.215000	0.43411	0.600000	0.82982	GGA		0.488	PDHA1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055977.1		
PHEX	5251	broad.mit.edu	37	X	22244608	22244608	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chrX:22244608C>A	ENST00000379374.4	+	19	2513	c.1948C>A	c.(1948-1950)Ctg>Atg	p.L650M	PHEX_ENST00000537599.1_Missense_Mutation_p.L650M|PHEX_ENST00000418858.3_Missense_Mutation_p.L353M|PHEX_ENST00000535894.1_Missense_Mutation_p.L553M	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	650					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.L650M(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						TAATGGAGGCCTGCGGGAAGC	0.423																																					p.L650M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1948A	X						.						171.0	163.0	166.0					X																	22244608		2203	4300	6503	22154529	SO:0001583	missense	5251	exon19			U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"""phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"""	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.1948C>A	X.37:g.22244608C>A	ENSP00000368682:p.Leu650Met		22154529	NM_000444	O00678|Q13646|Q2M325|Q93032|Q99827	Missense_Mutation	SNP	ENST00000379374.4	37	CCDS14204.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.075668	0.55646	.	.	ENSG00000102174	ENST00000379374;ENST00000537599;ENST00000535894;ENST00000418858	D;D;D;D	0.92446	-3.04;-3.04;-3.04;-3.04	5.87	4.8	0.61643	Peptidase M13, neprilysin, C-terminal (2);Metallopeptidase, catalytic domain (1);	0.060551	0.64402	D	0.000008	D	0.89262	0.6665	L	0.31294	0.92	0.46260	D	0.99895	D;D	0.60575	0.985;0.988	P;P	0.56960	0.79;0.81	D	0.87728	0.2577	10	0.62326	D	0.03	.	2.3807	0.04353	0.3026:0.4893:0.0:0.2082	.	650;650	F5GXU4;P78562	.;PHEX_HUMAN	M	650;650;553;353	ENSP00000368682:L650M;ENSP00000440362:L650M;ENSP00000439418:L553M;ENSP00000443531:L353M	ENSP00000368682:L650M	L	+	1	2	PHEX	22154529	0.967000	0.33354	1.000000	0.80357	0.989000	0.77384	1.359000	0.34113	2.618000	0.88619	0.600000	0.82982	CTG		0.423	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1	NM_000444	
PTCHD1	139411	broad.mit.edu	37	X	23411077	23411077	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chrX:23411077A>G	ENST00000379361.4	+	3	2302	c.1442A>G	c.(1441-1443)cAc>cGc	p.H481R		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	481					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)	p.H376R(1)		NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						TACGAGAGTCACCTATTGGTA	0.453																																					p.H481R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1442G	X						.						140.0	144.0	143.0					X																	23411077		2203	4300	6503	23320998	SO:0001583	missense	139411	exon3			AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.1442A>G	X.37:g.23411077A>G	ENSP00000368666:p.His481Arg		23320998	NM_173495	B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP	ENST00000379361.4	37	CCDS35215.2	.	.	.	.	.	.	.	.	.	.	A	18.11	3.550127	0.65311	.	.	ENSG00000165186	ENST00000379361	D	0.84660	-1.88	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.84456	0.5476	M	0.64997	1.995	0.58432	D	0.999993	P	0.34662	0.462	B	0.38296	0.27	T	0.81936	-0.0705	10	0.25106	T	0.35	.	15.2799	0.73773	1.0:0.0:0.0:0.0	.	481	Q96NR3	PTHD1_HUMAN	R	481	ENSP00000368666:H481R	ENSP00000368666:H481R	H	+	2	0	PTCHD1	23320998	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.962000	0.93254	1.992000	0.58205	0.486000	0.48141	CAC		0.453	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	NM_173495	
SAT1	6303	broad.mit.edu	37	X	23802147	23802147	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chrX:23802147delA	ENST00000379253.3	+	3	528	c.349delA	c.(349-351)aaafs	p.K119fs	SAT1_ENST00000379270.4_Intron|SAT1_ENST00000379251.3_Frame_Shift_Del_p.K149fs|RP13-314C10.5_ENST00000366134.2_RNA|Y_RNA_ENST00000365402.1_RNA|SAT1_ENST00000379254.1_Intron|SAT1_ENST00000489394.1_Intron			Q9H2B4	S26A1_HUMAN	spermidine/spermine N1-acetyltransferase 1	0					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|chloride transport (GO:0006821)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|oxalate transport (GO:0019532)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|chloride transmembrane transporter activity (GO:0015108)|oxalate transmembrane transporter activity (GO:0019531)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)	p.N150fs*13(3)		breast(1)|endometrium(3)|kidney(3)|lung(3)	10						ACTACTGAGGAAAAAAAAAAA	0.398																																					.												.	.	3	Deletion - Frameshift(3)	large_intestine(3)	.	X						.																																			23712068	SO:0001589	frameshift_variant	6303	.			M55580	CCDS14207.1	Xp22.1	2011-11-16	2006-08-24	2006-08-24	ENSG00000130066	ENSG00000130066	2.3.1.57		10540	protein-coding gene	gene with protein product	"""diamine N-acetyltransferase 1"""	313020	"""spermidine/spermine N1-acetyltransferase"""	SAT		1985966, 1417826	Standard	NM_002970		Approved	SSAT	uc004dau.3	P21673	OTTHUMG00000021256	ENST00000379253.3:c.349delA	X.37:g.23802147delA	ENSP00000368555:p.Lys119fs		23712068	.	A8K9N2|Q7Z5R3|Q96BK0	Frame_Shift_Del	DEL	ENST00000379253.3	37																																																																																					0.398	SAT1-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000056058.1	NM_002970	
MAGEB6	158809	broad.mit.edu	37	X	26212305	26212305	+	Silent	SNP	T	T	G	rs4997767		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chrX:26212305T>G	ENST00000379034.1	+	2	491	c.342T>G	c.(340-342)tcT>tcG	p.S114S		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	114	Ser-rich.							p.S114S(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CCACTGGCTCTCCTGATGCAG	0.537													.|||	42	0.0111258	0.0015	0.0072	3775	,	,		13361	0.0169		0.003	False		,,,				2504	0.0153				p.S114S												.	.	2	Substitution - coding silent(2)	large_intestine(1)|prostate(1)	c.T342G	X						.						85.0	77.0	79.0					X																	26212305		2183	4228	6411	26122226	SO:0001819	synonymous_variant	158809	exon2			AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.342T>G	X.37:g.26212305T>G			26122226	NM_173523	Q6GS19|Q9H219	Silent	SNP	ENST00000379034.1	37	CCDS14217.1																																																																																				0.537	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523	
FAM47A	158724	broad.mit.edu	37	X	34148141	34148141	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chrX:34148141C>T	ENST00000346193.3	-	1	2306	c.2255G>A	c.(2254-2256)gGc>gAc	p.G752D		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	752								p.G752D(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TTGAATGATGCCAGGCATTTC	0.398																																					p.G752D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2255A	X						.						120.0	115.0	117.0					X																	34148141		2202	4297	6499	34058062	SO:0001583	missense	158724	exon1			BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.2255G>A	X.37:g.34148141C>T	ENSP00000345029:p.Gly752Asp		34058062	NM_203408	A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	C	6.986	0.551955	0.13374	.	.	ENSG00000185448	ENST00000346193	T	0.14766	2.48	1.17	-2.24	0.06909	.	.	.	.	.	T	0.12433	0.0302	L	0.55481	1.735	0.09310	N	1	P	0.41393	0.748	P	0.45449	0.481	T	0.17623	-1.0363	9	0.17369	T	0.5	.	2.0276	0.03523	0.2568:0.3369:0.0:0.4062	.	752	Q5JRC9	FA47A_HUMAN	D	752	ENSP00000345029:G752D	ENSP00000345029:G752D	G	-	2	0	FAM47A	34058062	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.194000	0.01243	-1.095000	0.03050	-1.281000	0.01382	GGC		0.398	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408	
FAM47B	170062	broad.mit.edu	37	X	34962802	34962802	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chrX:34962802C>T	ENST00000329357.5	+	1	1890	c.1854C>T	c.(1852-1854)taC>taT	p.Y618Y		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	618								p.Y618Y(1)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GATGGACTTACGACTCTGTTA	0.403																																					p.Y618Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1854T	X						.						155.0	140.0	145.0					X																	34962802		2202	4300	6502	34872723	SO:0001819	synonymous_variant	170062	exon1			BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.1854C>T	X.37:g.34962802C>T			34872723	NM_152631	Q5JQN5|Q6PIG3	Silent	SNP	ENST00000329357.5	37	CCDS14236.1																																																																																				0.403	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631	
FAM47C	442444	broad.mit.edu	37	X	37028280	37028280	+	Silent	SNP	C	C	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chrX:37028280C>A	ENST00000358047.3	+	1	1849	c.1797C>A	c.(1795-1797)ccC>ccA	p.P599P		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	599								p.P599P(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CGGAGCCCCCCGAGACTGGAG	0.652																																					p.P599P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1797A	X						.						14.0	17.0	16.0					X																	37028280		2151	4224	6375	36938201	SO:0001819	synonymous_variant	442444	exon1			AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1797C>A	X.37:g.37028280C>A			36938201	NM_001013736	Q6ZU46	Silent	SNP	ENST00000358047.3	37	CCDS35227.1																																																																																				0.652	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736	
TSPAN7	7102	broad.mit.edu	37	X	38546876	38546876	+	Silent	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chrX:38546876C>T	ENST00000378482.2	+	7	882	c.705C>T	c.(703-705)tgC>tgT	p.C235C	TSPAN7_ENST00000286824.6_Silent_p.C252C|TSPAN7_ENST00000545599.1_Silent_p.C209C|TM4SF2_ENST00000465127.1_Silent_p.C265C|TSPAN7_ENST00000422612.2_Silent_p.C261C	NM_004615.3	NP_004606.2	P41732	TSN7_HUMAN	tetraspanin 7	235					viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)		p.C235C(1)|p.C230C(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	11						TGCTGGCCTGCTGTCTGTCCC	0.448																																					p.C235C												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C705T	X						.						120.0	91.0	100.0					X																	38546876		2202	4300	6502	38431820	SO:0001819	synonymous_variant	7102	exon7			D29808	CCDS14248.1	Xp11.4	2013-02-14	2005-03-21	2005-03-21	ENSG00000156298	ENSG00000156298		"""CD molecules"", ""Tetraspanins"""	11854	protein-coding gene	gene with protein product		300096	"""transmembrane 4 superfamily member 2"", ""mental retardation, X-linked 58"""	MXS1, TM4SF2, MRX58		12070254	Standard	NM_004615		Approved	DXS1692E, TALLA-1, A15, CD231	uc004deg.4	P41732	OTTHUMG00000024090	ENST00000378482.2:c.705C>T	X.37:g.38546876C>T			38431820	NM_004615	B2R5W7|D3DWB1|Q8WVG5|Q9UEY9	Silent	SNP	ENST00000378482.2	37	CCDS14248.1																																																																																				0.448	TSPAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356412.1		
USP9X	8239	broad.mit.edu	37	X	41025167	41025167	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chrX:41025167G>T	ENST00000324545.8	+	16	2661	c.2028G>T	c.(2026-2028)caG>caT	p.Q676H	USP9X_ENST00000378308.2_Missense_Mutation_p.Q676H	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	676					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.Q669H(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GTGCTCCTCAGGCAAAACAAA	0.378																																					p.Q676H	Ovarian(172;1807 2695 35459 49286)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2028T	X						.						122.0	116.0	118.0					X																	41025167		2191	4297	6488	40910111	SO:0001583	missense	8239	exon16			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.2028G>T	X.37:g.41025167G>T	ENSP00000316357:p.Gln676His		40910111	NM_001039590	O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.050185	0.55218	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.03982	3.74;3.74	4.92	4.01	0.46588	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.17408	0.0418	M	0.78801	2.425	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.987	T	0.00893	-1.1524	10	0.34782	T	0.22	.	8.2052	0.31452	0.2009:0.0:0.7991:0.0	.	676;676	Q93008-1;Q93008	.;USP9X_HUMAN	H	676	ENSP00000367558:Q676H;ENSP00000316357:Q676H	ENSP00000316357:Q676H	Q	+	3	2	USP9X	40910111	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.719000	0.47244	0.910000	0.36722	0.600000	0.82982	CAG		0.378	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652	
PPP1R2P9	80316	broad.mit.edu	37	X	42637172	42637172	+	IGR	DEL	A	A	-			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chrX:42637172delA								RP1-154K9.2 (78630 upstream) : RP3-326I13.1 (399070 downstream)														p.A54fs*12(1)									GGTGTGCCGCAAGGATGCTTG	0.507																																					.												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	.	X						.																																			42522116	SO:0001628	intergenic_variant	80316	.																															X.37:g.42637172delA			42522116	.		Frame_Shift_Del	DEL		37																																																																																				0	0.507								
CXorf36	79742	broad.mit.edu	37	X	45051019	45051019	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chrX:45051019G>A	ENST00000398000.2	-	2	549	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C	RP11-342D14.1_ENST00000438181.1_RNA|RP11-342D14.1_ENST00000450527.1_RNA|CXorf36_ENST00000377934.4_Missense_Mutation_p.R159C|CXorf36_ENST00000477281.1_Intron	NM_176819.3	NP_789789.2	Q9H7Y0	DIA1R_HUMAN	chromosome X open reading frame 36	159						extracellular region (GO:0005576)		p.R159C(2)		endometrium(1)|large_intestine(2)|lung(4)	7						GGCGTGAGGCGCTTGGCCTGC	0.552																																					p.R159C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C475T	X						.						84.0	83.0	83.0					X																	45051019		2203	4300	6503	44935963	SO:0001583	missense	79742	exon2			AF289581	CCDS14266.1, CCDS48096.1	Xp11.3-p11.23	2012-08-03			ENSG00000147113	ENSG00000147113			25866	protein-coding gene	gene with protein product						11944989, 21283809	Standard	NM_176819		Approved	FLJ14103, DIA1R	uc004dgg.2	Q9H7Y0	OTTHUMG00000021403	ENST00000398000.2:c.475C>T	X.37:g.45051019G>A	ENSP00000381086:p.Arg159Cys		44935963	NM_176819	A8MUU5|B2RPN7|Q6UWJ5	Missense_Mutation	SNP	ENST00000398000.2	37	CCDS48096.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.595749	0.86953	.	.	ENSG00000147113	ENST00000398000;ENST00000377934	T;T	0.37752	1.39;1.18	5.57	5.57	0.84162	.	0.072192	0.64402	D	0.000018	T	0.59824	0.2222	M	0.72118	2.19	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.71414	0.953;0.973	T	0.61959	-0.6955	10	0.56958	D	0.05	.	16.7596	0.85508	0.0:0.0:1.0:0.0	.	159;159	Q9H7Y0-2;Q9H7Y0	.;CX036_HUMAN	C	159	ENSP00000381086:R159C;ENSP00000367168:R159C	ENSP00000367168:R159C	R	-	1	0	CXorf36	44935963	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.357000	0.79456	2.333000	0.79357	0.600000	0.82982	CGC		0.552	CXorf36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056333.2	NM_024689	
RBM10	8241	broad.mit.edu	37	X	47039374	47039374	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chrX:47039374G>A	ENST00000377604.3	+	10	1739	c.997G>A	c.(997-999)Gtc>Atc	p.V333I	RBM10_ENST00000478410.1_3'UTR|RBM10_ENST00000329236.7_Missense_Mutation_p.V256I|RBM10_ENST00000345781.6_Missense_Mutation_p.V256I	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	333	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)	p.V333I(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CAACGTGCGCGTCATAAAGGA	0.622																																					p.V333I	Melanoma(171;120 2705 19495 39241)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G997A	X						.						48.0	37.0	41.0					X																	47039374		2203	4300	6503	46924318	SO:0001583	missense	8241	exon10			U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.997G>A	X.37:g.47039374G>A	ENSP00000366829:p.Val333Ile		46924318	NM_005676	C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP	ENST00000377604.3	37	CCDS14274.1	.	.	.	.	.	.	.	.	.	.	G	6.399	0.441682	0.12164	.	.	ENSG00000182872	ENST00000377604;ENST00000329236;ENST00000345781	T;T;T	0.05319	3.46;3.46;3.46	3.85	3.85	0.44370	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.185072	0.36519	N	0.002543	T	0.03739	0.0106	N	0.25201	0.72	0.33140	D	0.544191	B;B;B;B;B	0.31100	0.308;0.098;0.24;0.072;0.279	B;B;B;B;B	0.31390	0.057;0.067;0.065;0.039;0.129	T	0.13656	-1.0501	10	0.02654	T	1	-13.4528	9.3138	0.37921	0.0:0.2171:0.7829:0.0	.	256;398;333;256;333	P98175-3;Q7Z3D7;P98175-2;P98175-4;P98175	.;.;.;.;RBM10_HUMAN	I	333;256;256	ENSP00000366829:V333I;ENSP00000328848:V256I;ENSP00000329659:V256I	ENSP00000328848:V256I	V	+	1	0	RBM10	46924318	0.997000	0.39634	0.946000	0.38457	0.363000	0.29612	3.073000	0.50057	1.860000	0.53959	0.431000	0.28591	GTC		0.622	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676	
ZNF182	7569	broad.mit.edu	37	X	47837006	47837006	+	Silent	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chrX:47837006G>A	ENST00000396965.1	-	7	830	c.480C>T	c.(478-480)caC>caT	p.H160H	ZNF182_ENST00000376943.3_Silent_p.H141H|ZNF182_ENST00000305127.6_Silent_p.H160H	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	160					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H160H(1)		endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						CAAATGATTCGTGTTTATCGG	0.323																																					p.H160H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C480T	X						.						90.0	81.0	84.0					X																	47837006		2203	4300	6503	47721950	SO:0001819	synonymous_variant	7569	exon7			AK122874, R98366	CCDS35235.1, CCDS35236.1	Xp11.23	2013-01-08	2006-05-10	2006-05-10	ENSG00000147118	ENSG00000147118		"""Zinc fingers, C2H2-type"", ""-"""	13001	protein-coding gene	gene with protein product		314993	"""zinc finger protein 182 (HHZ150)"", ""zinc finger protein 21 (KOX 14)"""	ZNF21		8088786, 2014798, 8914609	Standard	NM_001178099		Approved	KOX14, HHZ150, Zfp182	uc004dit.3	P17025	OTTHUMG00000021460	ENST00000396965.1:c.480C>T	X.37:g.47837006G>A			47721950	NM_006962	A2IDD7|Q3KP67|Q96QH7	Silent	SNP	ENST00000396965.1	37	CCDS35236.1																																																																																				0.323	ZNF182-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277055.1	NM_006962	
TBC1D25	4943	broad.mit.edu	37	X	48418570	48418570	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chrX:48418570G>A	ENST00000376771.4	+	6	1615	c.1274G>A	c.(1273-1275)cGc>cAc	p.R425H	TBC1D25_ENST00000537536.1_Missense_Mutation_p.R171H|snoU13_ENST00000459609.1_RNA	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	425	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)	p.R425H(1)		large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						GATGCCCTCCGCATGCTTGAG	0.572																																					p.R425H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1274A	X						.						37.0	24.0	28.0					X																	48418570		2203	4300	6503	48303514	SO:0001583	missense	4943	exon6			L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"""ornithine aminotransferase-like 1"""	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.1274G>A	X.37:g.48418570G>A	ENSP00000365962:p.Arg425His		48303514	NM_002536	Q08AN9|Q3MII4|Q8TAR9	Missense_Mutation	SNP	ENST00000376771.4	37	CCDS35242.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.156821	0.78114	.	.	ENSG00000068354	ENST00000376771;ENST00000537536	T;T	0.34275	1.37;1.37	5.65	5.65	0.86999	Rab-GAP/TBC domain (4);	0.255521	0.34628	N	0.003801	T	0.50429	0.1615	M	0.64260	1.97	0.52501	D	0.99995	D;D;D	0.56746	0.977;0.977;0.959	P;P;P	0.53593	0.73;0.616;0.701	T	0.52449	-0.8574	10	0.62326	D	0.03	-11.0148	16.0325	0.80588	0.0:0.0:1.0:0.0	.	429;367;425	B4DF03;B4DGU3;Q3MII6	.;.;TBC25_HUMAN	H	425;171	ENSP00000365962:R425H;ENSP00000444091:R171H	ENSP00000365962:R425H	R	+	2	0	TBC1D25	48303514	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	7.231000	0.78106	2.387000	0.81309	0.431000	0.28591	CGC		0.572	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060764.2	NM_002536	
HDAC6	10013	broad.mit.edu	37	X	48675012	48675012	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chrX:48675012G>A	ENST00000334136.5	+	19	1941	c.1763G>A	c.(1762-1764)cGc>cAc	p.R588H	HDAC6_ENST00000376619.2_Missense_Mutation_p.R588H|HDAC6_ENST00000444343.2_Missense_Mutation_p.R602H			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	588	Histone deacetylase 2.				aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)	p.R588H(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	GCTGCCTGCCGCCTGGTGGAG	0.592																																					p.R588H	Pancreas(112;205 1675 2305 8976 15959)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1763A	X						.						40.0	33.0	36.0					X																	48675012		2203	4300	6503	48559956	SO:0001583	missense	10013	exon19			AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 90"""	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.1763G>A	X.37:g.48675012G>A	ENSP00000334061:p.Arg588His		48559956	NM_006044	O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	ENST00000334136.5	37	CCDS14306.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.134020	0.77662	.	.	ENSG00000094631	ENST00000444343;ENST00000334136;ENST00000376619;ENST00000436813	T;T;T	0.70045	-0.45;-0.45;-0.45	5.44	4.58	0.56647	Histone deacetylase domain (2);	0.169882	0.47455	N	0.000233	T	0.68677	0.3027	L	0.38733	1.17	0.80722	D	1	D;D;D	0.69078	0.997;0.995;0.997	P;P;P	0.61070	0.883;0.803;0.883	T	0.65651	-0.6116	10	0.33141	T	0.24	-5.2094	10.8141	0.46564	0.0941:0.0:0.9059:0.0	.	578;236;588	B4DZN1;B3KVK5;Q9UBN7	.;.;HDAC6_HUMAN	H	602;588;588;588	ENSP00000398566:R602H;ENSP00000334061:R588H;ENSP00000365804:R588H	ENSP00000334061:R588H	R	+	2	0	HDAC6	48559956	0.996000	0.38824	0.989000	0.46669	0.977000	0.68977	0.780000	0.26760	1.060000	0.40578	0.523000	0.50628	CGC		0.592	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	NM_006044	
SHROOM4	57477	broad.mit.edu	37	X	50345634	50345634	+	Splice_Site	DEL	T	T	-			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chrX:50345634delT	ENST00000289292.7	-	7	4224	c.3941delA	c.(3940-3942)aag>ag	p.K1314fs	SHROOM4_ENST00000376020.2_Splice_Site_p.K1314fs|SHROOM4_ENST00000460112.3_Splice_Site_p.K1198fs			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1314	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)	p.K1314fs*23(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					AAACTTTACCTTTTTTTGAGC	0.448																																					p.K1314fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.3941delA	X						.						143.0	127.0	132.0					X																	50345634		2203	4300	6503	50362374	SO:0001630	splice_region_variant	57477	exon7			AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3942+1A>-	X.37:g.50345634delT			50362374	NM_020717	A7E2X9|D6RFW0|Q96LA0	Frame_Shift_Del	DEL	ENST00000289292.7	37	CCDS35277.1																																																																																				0.448	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717	Frame_Shift_Del
MAGED1	9500	broad.mit.edu	37	X	51637798	51637798	+	Intron	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chrX:51637798C>T	ENST00000375722.1	+	3	297				MAGED1_ENST00000326587.7_Intron|MAGED1_ENST00000375772.3_Intron|MAGED1_ENST00000494718.1_Intron|MAGED1_ENST00000375695.2_Missense_Mutation_p.P41S			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1						apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)	p.P41S(1)		breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					TTCTGCATTCCCCACTCTGTG	0.587										Multiple Myeloma(10;0.10)																											p.P41S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C121T	X						.						65.0	57.0	60.0					X																	51637798		2203	4300	6503	51654538	SO:0001627	intron_variant	9500	exon3			AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.46-351C>T	X.37:g.51637798C>T			51654538	NM_001005333	Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Missense_Mutation	SNP	ENST00000375722.1	37	CCDS14337.1	.	.	.	.	.	.	.	.	.	.	C	11.56	1.675853	0.29783	.	.	ENSG00000179222	ENST00000375695	T	0.02916	4.11	2.82	2.82	0.32997	.	.	.	.	.	T	0.02304	0.0071	.	.	.	0.09310	N	1	B	0.21520	0.057	B	0.21360	0.034	T	0.45644	-0.9247	8	0.25751	T	0.34	.	9.2135	0.37333	0.0:1.0:0.0:0.0	.	41	Q9Y5V3-2	.	S	41	ENSP00000364847:P41S	ENSP00000364847:P41S	P	+	1	0	MAGED1	51654538	0.005000	0.15991	0.025000	0.17156	0.243000	0.25628	1.105000	0.31086	1.398000	0.46701	0.425000	0.28330	CCC		0.587	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056593.1	NM_001005332	
FGD1	2245	broad.mit.edu	37	X	54496517	54496517	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chrX:54496517C>T	ENST00000375135.3	-	4	1766	c.1033G>A	c.(1033-1035)Gag>Aag	p.E345K		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	345					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.E345K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						tcctcctcctcgtcgtcctcc	0.632																																					p.E345K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1033A	X						.						35.0	32.0	33.0					X																	54496517		2203	4300	6503	54513242	SO:0001583	missense	2245	exon4			U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3663	protein-coding gene	gene with protein product		300546	"""faciogenital dysplasia (Aarskog-Scott syndrome)"""	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.1033G>A	X.37:g.54496517C>T	ENSP00000364277:p.Glu345Lys		54513242	NM_004463	Q5H999|Q8N4D9	Missense_Mutation	SNP	ENST00000375135.3	37	CCDS14359.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.099515	0.56183	.	.	ENSG00000102302	ENST00000375135	T	0.65732	-0.17	5.62	5.62	0.85841	.	0.000000	0.40640	N	0.001048	T	0.35008	0.0917	N	0.08118	0	0.44966	D	0.99798	B;P	0.40638	0.222;0.725	B;B	0.25140	0.015;0.058	T	0.42649	-0.9439	10	0.09590	T	0.72	-9.3258	17.3953	0.87443	0.0:1.0:0.0:0.0	.	103;345	B4DS99;P98174	.;FGD1_HUMAN	K	345	ENSP00000364277:E345K	ENSP00000364277:E345K	E	-	1	0	FGD1	54513242	0.972000	0.33761	0.722000	0.30670	0.953000	0.61014	2.636000	0.46545	2.377000	0.81083	0.529000	0.55759	GAG		0.632	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1	NM_004463	
OPHN1	4983	broad.mit.edu	37	X	67518928	67518930	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	AGA	AGA	AGA	-	AGA	AGA	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chrX:67518928_67518930delAGA	ENST00000355520.5	-	3	804_806	c.163_165delTCT	c.(163-165)tctdel	p.S55del	OPHN1_ENST00000540071.1_In_Frame_Del_p.S55del	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	55					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|negative regulation of proteasomal protein catabolic process (GO:1901799)|nervous system development (GO:0007399)|regulation of endocytosis (GO:0030100)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|terminal bouton (GO:0043195)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)	p.S55delS(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						TCTGAACAGCAGAAGAATAATCT	0.365																																					p.55_55del												.	.	1	Deletion - In frame(1)	large_intestine(1)	c.163_165del	X						.																																			67435655	SO:0001651	inframe_deletion	4983	exon3			AJ001189	CCDS14388.1	Xq12	2011-07-04			ENSG00000079482	ENSG00000079482		"""Rho GTPase activating proteins"""	8148	protein-coding gene	gene with protein product		300127	"""mental retardation, X-linked 60"""	MRX60		9195162, 9582072	Standard	NM_002547		Approved	OPN1, ARHGAP41	uc004dww.4	O60890	OTTHUMG00000021744	ENST00000355520.5:c.163_165delTCT	X.37:g.67518931_67518933delAGA	ENSP00000347710:p.Ser55del		67435653	NM_002547	B9EIP8|Q5JQ81|Q6PCC1|Q8WX47	In_Frame_Del	DEL	ENST00000355520.5	37	CCDS14388.1																																																																																				0.365	OPHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057011.1	NM_002547	
P2RY4	5030	broad.mit.edu	37	X	69478798	69478798	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chrX:69478798C>T	ENST00000374519.2	-	1	856	c.677G>A	c.(676-678)cGc>cAc	p.R226H		NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 4	226					phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|transepithelial chloride transport (GO:0030321)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|uridine nucleotide receptor activity (GO:0015065)|UTP-activated nucleotide receptor activity (GO:0045030)	p.R226H(1)		cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						CTGATACAGGCGACGAGCCAT	0.582																																					p.R226H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G677A	X						.						55.0	51.0	52.0					X																	69478798		2202	4300	6502	69395523	SO:0001583	missense	5030	exon1			X91852	CCDS14398.1	Xq13	2012-08-08			ENSG00000186912	ENSG00000186912		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8542	protein-coding gene	gene with protein product		300038				8537336	Standard	NM_002565		Approved	NRU, P2Y4, UNR, P2P	uc004dxz.1	P51582	OTTHUMG00000021769	ENST00000374519.2:c.677G>A	X.37:g.69478798C>T	ENSP00000363643:p.Arg226His		69395523	NM_002565	Q4VBB7|Q4VBB8|Q502W2|Q5JT22	Missense_Mutation	SNP	ENST00000374519.2	37	CCDS14398.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.332919	0.41297	.	.	ENSG00000186912	ENST00000374519	T	0.53206	0.63	4.43	4.43	0.53597	GPCR, rhodopsin-like superfamily (1);	0.435697	0.22429	U	0.060173	T	0.63651	0.2529	M	0.70275	2.135	0.33084	D	0.536998	D	0.76494	0.999	D	0.75020	0.985	T	0.73325	-0.4018	10	0.62326	D	0.03	.	9.1412	0.36906	0.0:0.8977:0.0:0.1023	.	226	P51582	P2RY4_HUMAN	H	226	ENSP00000363643:R226H	ENSP00000363643:R226H	R	-	2	0	P2RY4	69395523	0.931000	0.31567	0.997000	0.53966	0.110000	0.19582	2.911000	0.48774	2.044000	0.60594	0.589000	0.80489	CGC		0.582	P2RY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057058.2	NM_002565	
PDZD11	51248	broad.mit.edu	37	X	69508353	69508353	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chrX:69508353T>C	ENST00000239666.4	-	3	230	c.98A>G	c.(97-99)cAc>cGc	p.H33R	PDZD11_ENST00000374454.1_Missense_Mutation_p.H33R|KIF4A_ENST00000374403.3_5'Flank|KIF4A_ENST00000374388.3_5'Flank|PDZD11_ENST00000473667.1_5'UTR	NM_016484.4	NP_057568.1	Q5EBL8	PDZ11_HUMAN	PDZ domain containing 11	33						basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)	protein C-terminus binding (GO:0008022)	p.H33R(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(3)	9						GTAGTCCGGGTGGTGTACCCT	0.468																																					p.H33R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A98G	X						.						109.0	88.0	95.0					X																	69508353		2203	4300	6503	69425078	SO:0001583	missense	51248	exon3			AF151061	CCDS14400.1	Xq13.1	2008-02-05		2006-01-24	ENSG00000120509	ENSG00000120509			28034	protein-coding gene	gene with protein product		300632		PDZK11		11042152, 12975309	Standard	NM_016484		Approved		uc004dyd.1	Q5EBL8	OTTHUMG00000021771	ENST00000239666.4:c.98A>G	X.37:g.69508353T>C	ENSP00000239666:p.His33Arg		69425078	NM_016484	D3DVU3|Q6UWE1|Q9P0Q1	Missense_Mutation	SNP	ENST00000239666.4	37	CCDS14400.1	.	.	.	.	.	.	.	.	.	.	T	12.36	1.913578	0.33815	.	.	ENSG00000120509	ENST00000239666;ENST00000374454	T;T	0.36340	1.26;1.26	5.15	5.15	0.70609	PDZ/DHR/GLGF (1);	0.044283	0.85682	D	0.000000	T	0.30510	0.0767	L	0.27053	0.805	0.51767	D	0.999939	P;B	0.46142	0.873;0.319	P;B	0.44990	0.466;0.047	T	0.03641	-1.1017	10	0.31617	T	0.26	.	13.2063	0.59798	0.0:0.0:0.0:1.0	.	64;33	Q5EBL8-2;Q5EBL8	.;PDZ11_HUMAN	R	33	ENSP00000239666:H33R;ENSP00000363578:H33R	ENSP00000239666:H33R	H	-	2	0	PDZD11	69425078	1.000000	0.71417	1.000000	0.80357	0.612000	0.37316	6.994000	0.76251	1.912000	0.55364	0.486000	0.48141	CAC		0.468	PDZD11-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057060.1	NM_016484	
TEX11	56159	broad.mit.edu	37	X	69945140	69945140	+	Silent	SNP	G	G	A	rs139872637		TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chrX:69945140G>A	ENST00000395889.2	-	13	1097	c.942C>T	c.(940-942)ggC>ggT	p.G314G	TEX11_ENST00000374320.2_5'Flank|TEX11_ENST00000344304.3_Silent_p.G314G|TEX11_ENST00000374333.2_Silent_p.G299G	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	314					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)		p.G299G(1)		breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					TAGATGTTTCGCCTTTCAAGA	0.303																																					p.G314G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C942T	X						.	G	,	1,3830		0,1,1629,571	94.0	87.0	89.0		942,897	-8.0	0.0	X	dbSNP_134	89	0,6724		0,0,2427,1870	no	coding-synonymous,coding-synonymous	TEX11	NM_001003811.1,NM_031276.2	,	0,1,4056,2441	AA,AG,GG,G		0.0,0.0261,0.0095	,	314/941,299/926	69945140	1,10554	2201	4297	6498	69861865	SO:0001819	synonymous_variant	56159	exon13			AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"""testis expressed sequence 11"""			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.942C>T	X.37:g.69945140G>A			69861865	NM_001003811	A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Silent	SNP	ENST00000395889.2	37	CCDS35323.1																																																																																				0.303	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1		
MED12	9968	broad.mit.edu	37	X	70354958	70354958	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chrX:70354958G>A	ENST00000374080.3	+	36	4912	c.4880G>A	c.(4879-4881)cGc>cAc	p.R1627H	MED12_ENST00000333646.6_Missense_Mutation_p.R1627H|MED12_ENST00000374102.1_Missense_Mutation_p.R1627H			Q93074	MED12_HUMAN	mediator complex subunit 12	1627	Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.R1627H(1)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TTGGGGGAGCGCCAGTCAGAC	0.567			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																														p.R1627H			Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4880A	X						.						55.0	53.0	54.0					X																	70354958		1999	4160	6159	70271683	SO:0001583	missense	9968	exon36			U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.4880G>A	X.37:g.70354958G>A	ENSP00000363193:p.Arg1627His		70271683	NM_005120	O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	-	17.70	3.454582	0.63290	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072;ENST00000439750	T;T;T;T;T	0.64085	0.06;-0.08;0.06;-0.08;1.11	4.15	1.35	0.21983	.	0.191145	0.47455	N	0.000239	T	0.66528	0.2798	L	0.43923	1.385	0.58432	D	0.999995	D;D;P;D	0.76494	0.999;0.999;0.954;0.999	D;P;B;D	0.65773	0.938;0.861;0.379;0.925	T	0.64071	-0.6493	10	0.66056	D	0.02	-3.7907	8.866	0.35286	0.2536:0.0:0.7464:0.0	.	1627;1474;1627;1627	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	H	1627;1627;1627;1627;1595;372	ENSP00000333125:R1627H;ENSP00000363215:R1627H;ENSP00000363193:R1627H;ENSP00000414203:R1595H;ENSP00000408388:R372H	ENSP00000333125:R1627H	R	+	2	0	MED12	70271683	0.970000	0.33590	0.995000	0.50966	0.828000	0.46876	1.885000	0.39678	0.049000	0.15920	0.529000	0.55759	CGC		0.567	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120	
NAP1L2	4674	broad.mit.edu	37	X	72434220	72434220	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chrX:72434220C>T	ENST00000373517.3	-	1	464	c.109G>A	c.(109-111)Gcc>Acc	p.A37T	NAP1L2_ENST00000536638.1_Intron	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	37					nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.A37T(1)		NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CCAGCAGCGGCATCTTCACCG	0.577																																					p.A37T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G109A	X						.						55.0	51.0	52.0					X																	72434220		2203	4300	6503	72350945	SO:0001583	missense	4674	exon1			AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.109G>A	X.37:g.72434220C>T	ENSP00000362616:p.Ala37Thr		72350945	NM_021963	B2RE61|B4E161|Q8TAN6	Missense_Mutation	SNP	ENST00000373517.3	37	CCDS14423.1	.	.	.	.	.	.	.	.	.	.	c	7.948	0.744296	0.15710	.	.	ENSG00000186462	ENST00000373517	D	0.91407	-2.84	3.1	1.09	0.20402	.	0.493565	0.19867	U	0.104294	T	0.78916	0.4359	N	0.14661	0.345	0.09310	N	1	B	0.27498	0.18	B	0.17433	0.018	T	0.68010	-0.5522	10	0.49607	T	0.09	0.241	8.0373	0.30499	0.0:0.508:0.492:0.0	.	37	Q9ULW6	NP1L2_HUMAN	T	37	ENSP00000362616:A37T	ENSP00000362616:A37T	A	-	1	0	NAP1L2	72350945	0.908000	0.30866	0.001000	0.08648	0.186000	0.23388	1.145000	0.31577	0.144000	0.18951	0.600000	0.82982	GCC		0.577	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	NM_021963	
F8	2157	broad.mit.edu	37	X	154158525	154158525	+	Silent	SNP	T	T	A			TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-3811-01A-01W-0995-10	TCGA-AA-3811-10A-01W-0995-10	g.chrX:154158525T>A	ENST00000360256.4	-	14	3740	c.3540A>T	c.(3538-3540)gtA>gtT	p.V1180V		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1180	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.V1180V(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CTTTGAGTCCTACGTCCTTTG	0.333																																					p.V1180V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A3540T	X						.						60.0	61.0	61.0					X																	154158525		2203	4296	6499	153811719	SO:0001819	synonymous_variant	2157	exon14			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.3540A>T	X.37:g.154158525T>A			153811719	NM_000132	Q14286|Q5HY69	Silent	SNP	ENST00000360256.4	37	CCDS35457.1																																																																																				0.333	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4		
